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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 10 354 0 0 1 0 0 EDNRB 1910 broad.mit.edu 37 13 78477390 78477390 + Silent SNP G G T rs112618428 byFrequency TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr13:78477390G>T ENST00000377211.4 - 4 1124 c.972C>A c.(970-972)gtC>gtA p.V324V EDNRB_ENST00000334286.5_Silent_p.V234V|EDNRB_ENST00000446573.1_Silent_p.V234V NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 234 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) TGGCTTCAGGGACAGCCAGAA 0.433000 13 626 4.36969e-10 4.72574e-10 1 1 0 L3MBTL2 83746 broad.mit.edu 37 22 41609955 41609955 + Silent SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr22:41609955G>A ENST00000216237.5 + 3 479 c.321G>A c.(319-321)aaG>aaA p.K107K L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 107 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding p.K107N(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCAAGACCAAGAGGTTCTGCA 0.512000 15 515 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47309283 47309283 + Silent SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr20:47309283G>A ENST00000396220.1 - 8 985 c.963C>T c.(961-963)aaC>aaT p.N321N PREX1_ENST00000371941.3_Silent_p.N321N Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 321 PH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) AGAGGGAGCCGTTGATGGATT 0.552000 11 416 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140080689 140080689 + Missense_Mutation SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr9:140080689C>T ENST00000323927.2 - 3 864 c.860G>A c.(859-861)cGt>cAt p.R287H NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 287 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GTGGAACTCACGCAGGAAGGA 0.642000 4 181 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104324559 104324559 + Missense_Mutation SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr9:104324559G>A ENST00000389120.3 + 20 2873 c.2783G>A c.(2782-2784)cGt>cAt p.R928H NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 928 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) TGTAACATGCGTAAAAAGGAT 0.418000 5 471 0 0 1 0 0 ASB17 127247 broad.mit.edu 37 1 76397669 76397669 + Missense_Mutation SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:76397669G>A ENST00000284142.6 - 1 447 c.308C>T c.(307-309)gCc>gTc p.A103V NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 103 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 ACCTTTTCTGGCAAAAACCCA 0.363000 5 228 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr6:45390466A>G ENST00000371438.1 + 2 553 c.195A>G c.(193-195)caA>caG p.Q65Q RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 65 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 5 81 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21875556 21875556 + Silent SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:21875556C>T ENST00000429584.2 + 1 1452 c.954C>T c.(952-954)tgC>tgT p.C318C MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 318 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 TCGAAGGCTGCGGGAAACGCT 0.532000 8 1386 0 0 1 0 0 BEX2 84707 broad.mit.edu 37 X 102564580 102564580 + Missense_Mutation SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:102564580G>A ENST00000536889.1 - 3 778 c.421C>T c.(421-423)Cgg>Tgg p.R141W BEX2_ENST00000372677.3_Missense_Mutation_p.R109W|BEX2_ENST00000372674.1_Missense_Mutation_p.R109W NM_001168399.1|NM_001168400.1 NP_001161871.1|NP_001161872.1 Q9BXY8 BEX2_HUMAN brain expressed X-linked 2 109 apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle cytoplasm|nucleus endometrium(1)|lung(1)|ovary(1) 3 CTGACTGCCCGCAAACTATGA 0.507000 9 817 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 14 224 0 0 1 0 0 THAP7-AS1 0 broad.mit.edu 37 22 21363392 21363392 + RNA SNP G G A rs28522842 by1000genomes TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr22:21363392G>A ENST00000452284.1 + 0 1059 THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA NR_027051.1 GGGCCCCATCGAATCACAGGG 0.562000 5 220 0 0 1 0 0 HMGN2P46 0 broad.mit.edu 37 15 45848224 45848224 + RNA SNP G G T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr15:45848224G>T ENST00000409454.1 + 0 1219 TGCAGATTTTGTTTAGCTTTT 0.318000 12 80 0.000958276 0.000985269 1 1 0 DAGLA 747 broad.mit.edu 37 11 61511152 61511152 + Missense_Mutation SNP C C G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:61511152C>G ENST00000257215.5 + 20 2436 c.2320C>G c.(2320-2322)Cgg>Ggg p.R774G NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 774 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) GCAGGCCCGGCGGGCACCACT 0.721000 7 238 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 5 643 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129519959 129519959 + Missense_Mutation SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr5:129519959G>A ENST00000305031.4 + 3 1482 c.1124G>A c.(1123-1125)cGg>cAg p.R375Q CHSY3_ENST00000507545.1_3'UTR NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 375 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) GAACACAATCGGAAGGGTTAC 0.343000 15 396 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23191911 23191911 + RNA SNP C C T rs147199465 by1000genomes TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr15:23191911C>T ENST00000400153.2 - 0 1785 NR_003521.1 TGATTTTCTTCGCACTGATCC 0.408000 4 191 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130416639 130416639 + Missense_Mutation SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:130416639C>T ENST00000370904.1 - 13 1908 c.998G>A c.(997-999)cGg>cAg p.R333Q IGSF1_ENST00000370903.3_Missense_Mutation_p.R342Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.R333Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.R342Q Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 342 Ig-like C2-type 4. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TCCTCGACACCGTAGGCTCAC 0.498000 13 379 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150656780 150656780 + Nonsense_Mutation SNP C C A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr7:150656780C>A ENST00000392968.2 - 1 1184 c.64G>T c.(64-66)Gag>Tag p.E22* KCNH2_ENST00000262186.5_Nonsense_Mutation_p.E118*|KCNH2_ENST00000430723.3_Nonsense_Mutation_p.E118* Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 118 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GCCCCATCCTCGTTCTTCACG 0.597000 4 258 0.150653 0.150653 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 25 646 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2814969 2814969 + Missense_Mutation SNP T T G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr16:2814969T>G ENST00000301740.8 + 11 4989 c.4440T>G c.(4438-4440)tgT>tgG p.C1480W NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1480 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GAAGCGAATGTGATTCTTCCC 0.532000 17 642 0 0 1 0 0 FAM86A 196483 broad.mit.edu 37 16 5140142 5140142 + Missense_Mutation SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr16:5140142C>T ENST00000427587.4 - 6 753 c.685G>A c.(685-687)Gac>Aac p.D229N FAM86A_ENST00000458008.4_Missense_Mutation_p.D195N|FAM86A_ENST00000587133.1_Missense_Mutation_p.D168N NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 229 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 GTCGCGACGTCCCAGTCCAGC 0.602000 6 263 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 4 242 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42875532 42875532 + Missense_Mutation SNP G G T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr13:42875532G>T ENST00000025301.2 + 8 2825 c.2650G>T c.(2650-2652)Gta>Tta p.V884L NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 884 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GCATACGATAGTAAATGAAAC 0.338000 5 139 4.096e-09 4.39718e-09 1 1 0 ARAP2 116984 broad.mit.edu 37 4 36189102 36189102 + Missense_Mutation SNP C C A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr4:36189102C>A ENST00000303965.4 - 8 2138 c.1649G>T c.(1648-1650)aGa>aTa p.R550I NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 550 PH 1. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 AACAAAAGTTCTTTGTGTTGT 0.299000 11 298 4.68919e-08 4.99724e-08 1 1 0 PER2 8864 broad.mit.edu 37 2 239185809 239185809 + Missense_Mutation SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr2:239185809C>T ENST00000254657.3 - 3 535 c.256G>A c.(256-258)Gca>Aca p.A86T PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 86 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity p.A86T(1) NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TCAGATTTTGCCATCATCAGG 0.383000 7 1381 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046110 42046110 + Silent SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:42046110C>T ENST00000372584.1 - 3 5373 c.4359G>A c.(4357-4359)gaG>gaA p.E1453E HIVEP3_ENST00000429157.2_Silent_p.E1453E|HIVEP3_ENST00000372583.1_Silent_p.E1453E|HIVEP3_ENST00000247584.5_Silent_p.E1453E NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1453 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGGAAGCCTCCTCCTCCTTCA 0.512000 19 684 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186328936 186328936 + Missense_Mutation SNP T T C TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:186328936T>C ENST00000367478.3 - 12 1680 c.1384A>G c.(1384-1386)Atg>Gtg p.M462V TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 462 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CCAACCTTCATAGCTTGTTCA 0.368000 T NTRK1 papillary thyroid 15 267 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T rs55749440 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:207787753C>T ENST00000367049.4 + 40 6580 c.6580C>T c.(6580-6582)Cga>Tga p.R2194* CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1744 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.R1749*(9)|p.R2194*(9)|p.R1744*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTAGGTTCCGATTAAAAGG 0.423000 4 209 0 0 1 0 0 BCCIP 56647 broad.mit.edu 37 10 127520157 127520157 + Missense_Mutation SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr10:127520157C>T ENST00000299130.3 + 5 592 c.580C>T c.(580-582)Ccc>Tcc p.P194S BCCIP_ENST00000429863.2_Missense_Mutation_p.P164S|BCCIP_ENST00000368759.5_Missense_Mutation_p.P194S|BCCIP_ENST00000278100.6_Missense_Mutation_p.P194S NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 194 Interaction with CDKN1A. cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) GATCGCTCTGCCCATGTACCA 0.383000 6 323 0 0 1 0 0 RPLP0P2 0 broad.mit.edu 37 11 61405030 61405030 + RNA SNP T T A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:61405030T>A ENST00000496593.1 + 0 1634 NR_002775.2 ctgctgctgctgcAGCCCCAG 0.552000 4 149 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128735 45128735 + RNA SNP T T C rs138973461 by1000genomes TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr17:45128735T>C ENST00000575173.1 - 0 418 GAAATACTAATGATTTTTATT 0.323000 7 420 0 0 1 0 0 RP11-707M1.1 0 broad.mit.edu 37 11 49831711 49831711 + RNA SNP A A G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:49831711A>G ENST00000527477.1 + 0 1936 GTTGATGTTAATCAAAGCTCC 0.448000 9 582 0 0 1 0 0 CHD6 0 broad.mit.edu 37 20 40052243 40052243 + Missense_Mutation SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr20:40052243G>A ENST00000373233.3 - 30 4621 c.4444C>T c.(4444-4446)Cgc>Tgc p.R1482C NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1482 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GAAATGATGCGGAACTGTGTC 0.443000 6 837 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 9 303 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49207099 49207099 + Missense_Mutation SNP G G A rs79097987 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:49207099G>A ENST00000425340.2 + 2 1003 c.886G>A c.(886-888)Gca>Aca p.A296T FUT2_ENST00000391876.4_Missense_Mutation_p.A296T NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 296 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) GATCTGGGCCGCATACCTCAC 0.557000 7 617 0 0 1 0 0 MMP2 0 broad.mit.edu 37 16 55519538 55519538 + Silent SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr16:55519538C>T ENST00000219070.4 + 5 1190 c.681C>T c.(679-681)aaC>aaT p.N227N MMP2_ENST00000570308.1_Silent_p.N151N|MMP2_ENST00000437642.2_Silent_p.N177N|MMP2_ENST00000543485.1_Silent_p.N151N NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 227 Collagen-binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) AGTATGGGAACGCCGATGGGG 0.542000 20 569 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227660111 227660111 + Missense_Mutation SNP T T C TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr2:227660111T>C ENST00000305123.4 - 1 4364 c.3344A>G c.(3343-3345)aAc>aGc p.N1115S NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 1115 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GGGCACTGTGTTGCCCACCCG 0.617000 12 349 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653425 46653425 + Missense_Mutation SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr22:46653425G>A ENST00000253255.5 - 1 5794 c.5795C>T c.(5794-5796)tCg>tTg p.S1932L NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1932 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AAATATGACCGAAATGCTACA 0.373000 6 276 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + RNA SNP T T C TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr7:100350361T>C ENST00000542585.1 + 0 2781 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_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) ACGGAAAAACTCACCATCCCC 0.502000 10 724 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 5 205 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37370977 37370977 + Missense_Mutation SNP G G C TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr5:37370977G>C ENST00000231498.3 - 1 306 c.103C>G c.(103-105)Caa>Gaa p.Q35E NUP155_ENST00000513532.1_Missense_Mutation_p.Q35E NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 35 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CGGTCCTCTTGCAACTGACGG 0.582000 17 504 0 0 1 0 0 CD3EAP 10849 broad.mit.edu 37 19 45911871 45911871 + Silent SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:45911871G>A ENST00000309424.3 + 3 1133 c.645G>A c.(643-645)aaG>aaA p.K215K ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.K217K NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 215 Poly-Lys. rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity p.K215N(1) breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) AGAAGAAGAAGAAAAAAAATC 0.587000 14 493 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676844 100676844 + Missense_Mutation SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr7:100676844G>A ENST00000306151.4 + 3 2211 c.2147G>A c.(2146-2148)aGc>aAc p.S716N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 716 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S716N(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTTGACACCAGCACACCTGTG 0.493000 9 1750 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51754173 51754173 + Missense_Mutation SNP G G T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr10:51754173G>T ENST00000374056.4 + 3 709 c.311G>T c.(310-312)aGc>aTc p.S104I AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 127 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.S127I(2) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 ATAAGAAGAAGCAACTGTACA 0.269000 9 375 2.17888e-05 2.25614e-05 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 8 115 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104678687 104678687 + Silent SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr10:104678687C>T ENST00000369878.3 + 1 574 c.450C>T c.(448-450)tgC>tgT p.C150C CNNM2_ENST00000369875.3_Silent_p.C150C|CNNM2_ENST00000433628.2_Silent_p.C150C NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 150 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCCAGCGATGCGGCATCCGCA 0.687000 8 652 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713956 142713956 + RNA SNP G G A rs12161184 by1000genomes TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:142713956G>A ENST00000369381.2 - 0 649 AAGTTAAAGAGTAACCTGCAC 0.308000 7 84 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347033 71347033 + Missense_Mutation SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr4:71347033C>T ENST00000413702.1 + 4 860 c.572C>T c.(571-573)gCc>gTc p.A191V MUC7_ENST00000304887.5_Missense_Mutation_p.A191V|MUC7_ENST00000456088.1_Missense_Mutation_p.A191V NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 191 Thr-rich. extracellular region protein binding p.A191V(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCACAGCTGCCCCACCCACA 0.587000 8 628 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 8 419 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45484833 45484833 + Missense_Mutation SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:45484833G>A ENST00000359600.5 - 14 3056 c.2851C>T c.(2851-2853)Cgc>Tgc p.R951C NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 951 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) GCCAGTGTGCGAGCACAGCTA 0.542000 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 210 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395333 89395333 + RNA SNP A A G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:89395333A>G ENST00000532352.1 + 0 731 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GCTTATAGGCATGGAATTGCA 0.348000 5 198 0 0 1 0 0 KLHDC2 23588 broad.mit.edu 37 14 50249311 50249311 + Splice_Site SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr14:50249311C>T ENST00000298307.5 + 12 1957 c.1097_splice c.e12+1 p.R366_splice KLHDC2_ENST00000554589.1_Intron|KLHDC2_ENST00000557247.1_Intron NM_014315.2 NP_055130.1 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 366 nucleus protein binding endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(31;0.000959)|Breast(41;0.0117) ATCTCTTGTACGGTAAGTAAC 0.308000 8 142 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 470440 470440 + Missense_Mutation SNP T T C rs61730060 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr20:470440T>C ENST00000217244.3 - 10 1082 c.707A>G c.(706-708)cAt>cGt p.H236R CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 236 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity p.H236R(2) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATAATTGTCATGTCCATGGAA 0.373000 6 225 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150911532 150911532 + Splice_Site SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr5:150911532C>T ENST00000261800.5 - 13 9440 c.e13-1 NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCATTGGCGCCTGGCAGGGAG 0.652000 20 359 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 9 922 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224488 77224488 + Silent SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:77224488G>A ENST00000458128.1 - 1 647 c.648C>T c.(646-648)atC>atT p.I216I ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 216 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 ATTCATAGACGATGGGAATAC 0.537000 7 742 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 10 199 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 8 577 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082565 152082565 + Missense_Mutation SNP A A C TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:152082565A>C ENST00000368804.1 - 2 3127 c.3128T>G c.(3127-3129)cTc>cGc p.L1043R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1043 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding p.L1043R(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGCTCCTGGAGTCTTCTTTT 0.592000 8 902 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 7 479 0 0 1 0 0 RPL23AP53 0 broad.mit.edu 37 8 163401 163401 + RNA SNP G G C TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr8:163401G>C ENST00000606975.1 - 0 520 TCTGGTGCTTGTTGGCTTTAA 0.463000 4 152 0 0 1 0 0 TSPAN5 10098 broad.mit.edu 37 4 99407920 99407920 + Missense_Mutation SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr4:99407920G>A ENST00000305798.3 - 3 650 c.248C>T c.(247-249)gCg>gTg p.A83V TSPAN5_ENST00000505184.1_Missense_Mutation_p.A12V|TSPAN5_ENST00000509168.1_5'UTR NM_005723.3 NP_005714.2 P62079 TSN5_HUMAN tetraspanin 5 83 integral to membrane kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;1.89e-07) TTCCCGTAGCGCTCCAATGCA 0.478000 17 577 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23066171 23066171 + Missense_Mutation SNP G G A rs138932459 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr20:23066171G>A ENST00000246006.4 - 1 806 c.659C>T c.(658-660)gCg>gTg p.A220V NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 220 A -> V (in a colorectal cancer sample; somatic mutation). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding p.A220V(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TACATTGGCCGCAGAGGCAAA 0.617000 7 521 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 4 72 0 0 1 0 0 RPL32P3 0 broad.mit.edu 37 3 129116000 129116000 + RNA SNP A A G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr3:129116000A>G ENST00000514355.1 - 0 412 lung(1) 1 GGGAAGAAGTAGCCCCAGGTG 0.542000 10 597 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728170 20728170 + Missense_Mutation SNP G G C TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:20728170G>C ENST00000427401.4 - 4 933 c.839C>G c.(838-840)aCt>aGt p.T280S NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 280 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TTTCTCTCCAGTATGAATTAT 0.413000 4 326 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 11 201 0 0 1 0 0 SPATC1 375686 broad.mit.edu 37 8 145094826 145094826 + Silent SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr8:145094826G>A ENST00000377470.3 + 2 330 c.228G>A c.(226-228)ccG>ccA p.P76P SPATC1_ENST00000447830.2_Silent_p.P76P NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 76 Necessary for targeting centrosomes (By similarity). NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCCTGCCCCCGTCCCCAGCAG 0.632000 10 431 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247597507 247597507 + Silent SNP C C T rs147154764 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:247597507C>T ENST00000366497.2 + 6 3210 c.2430C>T c.(2428-2430)ctC>ctT p.L810L NLRP3_ENST00000391828.3_Silent_p.L810L|NLRP3_ENST00000366496.2_Silent_p.L810L|NLRP3_ENST00000391827.2_Silent_p.L753L|NLRP3_ENST00000348069.2_Silent_p.L753L|NLRP3_ENST00000336119.3_Silent_p.L810L NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 867 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ACAACGCCCTCGGTGACTTCG 0.567000 6 433 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 15 695 5.35267e-07 5.66297e-07 1 1 0 PCDHB13 0 broad.mit.edu 37 5 140595672 140595672 + Silent SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr5:140595672C>T ENST00000341948.4 + 1 2164 c.1977C>T c.(1975-1977)caC>caT p.H659H NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 659 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACGCTGCACGTGCTCCTGG 0.716000 14 417 0 0 1 0 0 BVES 11149 broad.mit.edu 37 6 105573335 105573335 + Missense_Mutation SNP T T C TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr6:105573335T>C ENST00000314641.5 - 4 686 c.470A>G c.(469-471)aAg>aGg p.K157R BVES_ENST00000336775.5_Missense_Mutation_p.K157R|BVES_ENST00000446408.2_Missense_Mutation_p.K157R NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 157 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity p.K157R(1) NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) AGTTTGGCCCTTTTTCAAGGT 0.438000 6 838 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155254706 155254706 + RNA SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:155254706C>T ENST00000285718.7 + 0 1151 WASH6P_ENST00000461007.1_RNA p.T415M(2) GTGAGAGCCACGAGCCAAGGT 0.637000 6 29 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578508 7578508 + Missense_Mutation SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr17:7578508C>T ENST00000420246.2 - 5 554 c.422G>A c.(421-423)tGc>tAc p.C141Y TP53_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 141 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (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.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(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) CTGCACAGGGCAGGTCTTGGC 0.572000 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) 8 197 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 59 0 0 1 0 0 TUBG2 27175 broad.mit.edu 37 17 40817827 40817827 + Silent SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr17:40817827G>A ENST00000251412.7 + 8 1024 c.825G>A c.(823-825)ccG>ccA p.P275P NM_016437.2 NP_057521.1 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 275 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) GCTACACCCCGCTCACTACAG 0.637000 29 585 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 223 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103063588 103063588 + Silent SNP G G C TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr2:103063588G>C ENST00000264260.2 + 10 1720 c.1131G>C c.(1129-1131)gcG>gcC p.A377A IL18RAP_ENST00000409369.1_Silent_p.A235A NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 377 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 TGCTGGCGGCGAGTGCCCTCC 0.582000 6 892 0 0 1 0 0 CRYBB1 1414 broad.mit.edu 37 22 27008105 27008105 + Missense_Mutation SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr22:27008105G>A ENST00000215939.2 - 3 360 c.230C>T c.(229-231)tCg>tTg p.S77L NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 77 Beta/gamma crystallin 'Greek key' 1. visual perception structural constituent of eye lens p.S77L(1) breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 GCACTCCCCCGAGAATTCTGC 0.612000 18 367 0 0 1 0 0 CATSPER2P1 0 broad.mit.edu 37 15 44036644 44036644 + RNA SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr15:44036644G>A ENST00000381680.2 - 0 526 NR_002318.2 TGACTGCAGCGCACATGAAGC 0.493000 4 123 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389313 1389313 + Silent SNP T T C rs71299249 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr4:1389313T>C ENST00000324803.4 + 1 3974 c.1014T>C c.(1012-1014)tgT>tgC p.C338C NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 338 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CATGCCGATGTGGAGTGCCCG 0.662000 11 1432 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 11 176 0 0 1 0 0 PDSS1 23590 broad.mit.edu 37 10 27024505 27024505 + Silent SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr10:27024505G>A ENST00000376215.5 + 10 1076 c.1023G>A c.(1021-1023)caG>caA p.Q341Q PDSS1_ENST00000376203.5_Intron|PDSS1_ENST00000470978.1_3'UTR NM_014317.3 NP_055132.2 Q5T2R2 DPS1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 1 341 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion metal ion binding|protein heterodimerization activity autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1) 21 TTGCCTGTCAGCAGGTAGGTT 0.498000 6 153 0 0 1 0 0 MMP15 4324 broad.mit.edu 37 16 58074496 58074496 + Silent SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr16:58074496G>A ENST00000219271.3 + 5 1589 c.804G>A c.(802-804)gaG>gaA p.E268E NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 268 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 TGGGGCTGGAGCACTCCAGCA 0.607000 8 279 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161591 90161591 + RNA SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr16:90161591C>T ENST00000567960.1 + 0 327 TUBB8P7_ENST00000564451.1_RNA ACACCGAAGGCGCGGAGCTGA 0.602000 4 180 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539375 56539375 + Silent SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:56539375C>T ENST00000390649.3 + 7 1776 c.1776C>T c.(1774-1776)gcC>gcT p.A592A NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 592 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ACTTCTGTGCCGCCTTGTACT 0.532000 5 137 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 214 0.00448238 0.00454464 1 1 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 11 1467 0 0 1 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48571097 48571097 + Silent SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:48571097G>A ENST00000354276.3 - 13 1380 c.1053C>T c.(1051-1053)tgC>tgT p.C351C PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000413144.2_Silent_p.C351C|PLA2G4C_ENST00000599921.1_Silent_p.C351C|PLA2G4C_ENST00000599111.1_Silent_p.C361C NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 351 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) ACTTTGAAGCGCAAATGCCTG 0.512000 9 1521 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371685 109371685 + Missense_Mutation SNP A A T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr2:109371685A>T ENST00000283195.6 + 17 2562 c.2436A>T c.(2434-2436)aaA>aaT p.K812N NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 812 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTTTACTGAAAATGATTTGCC 0.348000 7 1009 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255043 155255043 + RNA SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:155255043G>A ENST00000285718.7 + 0 1348 WASH6P_ENST00000461007.1_RNA ATCCTAGGGGGCTCCATGACA 0.642000 8 209 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053127 85053127 + RNA SNP T T G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr15:85053127T>G ENST00000414190.2 - 0 325 NR_003246.2 ATGTTTTGTTTTTTTTTTTTC 0.363000 3 38 0 0 1 0 0 GAN 8139 broad.mit.edu 37 16 81411107 81411107 + Missense_Mutation SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr16:81411107G>A ENST00000248272.3 + 11 1862 c.1700G>A c.(1699-1701)cGt>cAt p.R567H NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin 567 cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) GACCTTCGCCGTACAGGATGT 0.502000 7 921 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244158 56244158 + Missense_Mutation SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:56244158C>T ENST00000332836.2 - 2 1066 c.1039G>A c.(1039-1041)Gtg>Atg p.V347M NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 347 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CTCTGTTTCACACAAGTACAG 0.418000 20 614 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 20 173 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152552104 152552104 + Silent SNP A A G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr2:152552104A>G ENST00000427231.2 - 18 1864 c.1662T>C c.(1660-1662)taT>taC p.Y554Y NEB_ENST00000603639.1_Silent_p.Y554Y|NEB_ENST00000604864.1_Silent_p.Y554Y|NEB_ENST00000172853.10_Silent_p.Y554Y|NEB_ENST00000409198.1_Silent_p.Y554Y|NEB_ENST00000397345.3_Silent_p.Y554Y NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 554 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CACTCAAGTTATAGGCATTGA 0.373000 5 105 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38323617 38323617 + Silent SNP T T A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr22:38323617T>A ENST00000215957.6 + 9 1791 c.1665T>A c.(1663-1665)tcT>tcA p.S555S MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 555 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) TCAGCCTCTCTACCAACTCCT 0.632000 17 682 0 0 1 0 0 TAF6 6878 broad.mit.edu 37 7 99707631 99707631 + Silent SNP G G A rs148894017 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr7:99707631G>A ENST00000344095.4 - 12 1749 c.1224C>T c.(1222-1224)gaC>gaT p.D408D TAF6_ENST00000453269.2_Silent_p.D408D|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000472509.1_Silent_p.D465D|TAF6_ENST00000452041.1_Silent_p.D408D|TAF6_ENST00000437822.2_Silent_p.D445D|TAF6_ENST00000418432.2_Silent_p.D332D NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 408 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCACAGGGCCGTCCAGCACAC 0.587000 5 345 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50519366 50519366 + Missense_Mutation SNP A A G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr15:50519366A>G ENST00000267842.5 + 7 1680 c.1448A>G c.(1447-1449)gAt>gGt p.D483G SLC27A2_ENST00000380902.4_Missense_Mutation_p.D430G|SLC27A2_ENST00000544960.1_Missense_Mutation_p.D248G NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 483 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) AGAGTTGGAGATACATTCCGG 0.408000 9 320 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43528993 43528993 + Missense_Mutation SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:43528993C>T ENST00000401740.1 - 2 383 c.280G>A c.(280-282)Gca>Aca p.A94T PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 94 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) CCACTGTATGCCGGTCCATAT 0.443000 8 1137 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 5 165 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629046 1629046 + Silent SNP G G A rs12808755 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:1629046G>A ENST00000399685.1 - 1 647 c.570C>T c.(568-570)tgC>tgT p.C190C NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 190 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) agcagggtttgcagcagctgg 0.622000 7 673 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153036266 153036266 + Silent SNP A A T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:153036266A>T ENST00000538966.1 + 12 2404 c.2133A>T c.(2131-2133)gcA>gcT p.A711A PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Silent_p.A341A|PLXNB3_ENST00000361971.5_Silent_p.A688A|PLXNB3_ENST00000538282.1_Silent_p.A298A NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 688 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AAGGCCTGGCAGGTCCCCACC 0.622000 6 262 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49218732 49218732 + Silent SNP C C A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr20:49218732C>A ENST00000327979.2 - 13 1935 c.1524G>T c.(1522-1524)ggG>ggT p.G508G FAM65C_ENST00000045083.2_Silent_p.G508G|FAM65C_ENST00000535356.1_Silent_p.G512G Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 508 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCACGCCAGGCCCGTCCTCTC 0.697000 5 158 0.0215528 0.0217014 1 1 0 AKR1A1 10327 broad.mit.edu 37 1 46032622 46032622 + Missense_Mutation SNP C C T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:46032622C>T ENST00000372070.3 + 5 1033 c.286C>T c.(286-288)Cgg>Tgg p.R96W AKR1A1_ENST00000471651.1_3'UTR|AKR1A1_ENST00000351829.4_Missense_Mutation_p.R96W NM_001202413.1|NM_001202414.1|NM_006066.3 NP_001189342.1|NP_001189343.1|NP_006057.1 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 (aldehyde reductase) 96 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding lung(3)|prostate(1)|urinary_tract(1) 5 Acute lymphoblastic leukemia(166;0.155) GCCTGCCCTCCGGAAGACTCT 0.607000 12 240 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 15 246 0 0 1 0 0 DDX11L1 0 broad.mit.edu 37 1 13417 13418 + RNA INS - - GAGA TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:13417_13418insGAGA ENST00000456328.2 + 0 665_666 NR_046018.2|NR_051986.1 TCCACCACCCCGAGATCACATT 0.559 9 117 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 9 839 --- --- --- --- RERE 473 broad.mit.edu 37 1 8716284 8716285 + Frame_Shift_Del DEL TC TC - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:8716284_8716285delTC ENST00000337907.3 - 3 706_707 c.72_73delGA c.(70-75)gaaafs p.EK24fs RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 24 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TTGTCTCTTTTCtctctctctc 0.505 8 896 --- --- --- --- PRDM2 7799 broad.mit.edu 37 1 14108559 14108560 + Frame_Shift_Ins INS - - A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:14108559_14108560insA ENST00000235372.7 + 8 5125_5126 c.4269_4270insA c.(4267-4272)aaaaaafs p.KK1423fs PRDM2_ENST00000413440.1_Frame_Shift_Ins_p.KK1222fs|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Frame_Shift_Ins_p.KK1222fs|PRDM2_ENST00000311066.5_Frame_Shift_Ins_p.KK1423fs|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1423 Arg/Lys-rich (basic). Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ATGCATTGAAGAAAAAAAATCA 0.396 7 586 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:16255142_16255143delGA ENST00000375759.3 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)gfs p.E803fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 10 517 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 8 357 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27100182 27100184 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:27100182_27100184delGCA ENST00000324856.7 + 16 4349_4351 c.3978_3980delGCA c.(3976-3981)ccg>cc p.PQ1326del ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del|ARID1A_ENST00000540690.1_5'UTR NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1326 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q1327*(1)|p.Q1334delQ(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCTACCCCCCgcagcagcagcag 0.591 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 10 437 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 22 262 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 10 156 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142699961 142699961 + RNA DEL T T - rs74315780 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:142699961delT ENST00000369381.2 - 0 2077 tatatatatatatatCCAAAA 0.259 8 11 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 7 428 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 10 472 --- --- --- --- C1orf131 128061 broad.mit.edu 37 1 231362513 231362513 + Frame_Shift_Del DEL T T - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr1:231362513delT ENST00000318906.2 - 5 693 c.665delA c.(664-666)agfs p.K222fs C1orf131_ENST00000366649.2_Frame_Shift_Del_p.K222fs|C1orf131_ENST00000366651.3_Frame_Shift_Del_p.K221fs Q8NDD1 CA131_HUMAN chromosome 1 open reading frame 131 222 Lys-rich. breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 8 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) CTTTGCTGCCTTTTTTTCTTT 0.373 8 621 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 7 1137 --- --- --- --- SEPT10 151011 broad.mit.edu 37 2 110301827 110301828 + Frame_Shift_Ins INS - - T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr2:110301827_110301828insT ENST00000356688.4 - 12 1821_1822 c.1506_1507insA c.(1504-1509)aatagafs p.NR502fs SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000437928.1_3'UTR|SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR Q9P0V9 SEP10_HUMAN septin 10 0 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 CACACTTCTAGTTTTTTTTTAA 0.317 9 235 --- --- --- --- ERCC3 2071 broad.mit.edu 37 2 128046944 128046946 + In_Frame_Del DEL TCT TCT - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr2:128046944_128046946delTCT ENST00000493187.2 - 6 1060_1062 c.597_599delAGA c.(595-600)gag>ga p.EE199del ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 263 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGTCTGTGTCTCTTCTTCTTCTT 0.473 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 10 247 --- --- --- --- KLHL41 10324 broad.mit.edu 37 2 170366496 170366496 + Frame_Shift_Del DEL A A - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr2:170366496delA ENST00000284669.1 + 1 285 c.208delA c.(208-210)aafs p.K72fs RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TGATGAGGCGAAAAAAAAGGA 0.388 8 778 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179416527 179416530 + Frame_Shift_Del DEL TTTC TTTC - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr2:179416527_179416530delTTTC ENST00000589042.1 - 335 91321_91324 c.91097_91100delGAAA c.(91096-91101)atfs p.RN30366fs TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.RN27798fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.RN21426fs|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.RN21301fs|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.RN21493fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.RN28725fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28725 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) GAGGATGCTATTTCTTTCTTTCTT 0.392 7 907 --- --- --- --- AC116035.2 0 broad.mit.edu 37 3 30567472 30567472 + RNA DEL C C - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr3:30567472delC ENST00000431057.1 - 0 59 AC116035.1_ENST00000450746.1_lincRNA cgtctccccacccctccctcc 0.373 2 4 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 8 348 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194181471 194181473 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr3:194181471_194181473delGAG ENST00000439040.1 - 4 930_932 c.139_141delCTC c.(139-141)del p.L47del ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del Q9H7F0 AT133_HUMAN ATPase type 13A3 47 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCATCCAATAGAGGAGGAGGAGG 0.463 8 608 --- --- --- --- SLC51A 200931 broad.mit.edu 37 3 195955100 195955102 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr3:195955100_195955102delCTG ENST00000296327.5 + 5 686_688 c.477_479delCTG c.(475-480)ccc>cc p.PC159del NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit ACACAGGCCCctgctgctgctgc 0.665 17 467 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 7 302 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 12 169 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 12 578 --- --- --- --- TACR3 6870 broad.mit.edu 37 4 104577461 104577469 + In_Frame_Del DEL ATGGGAAAC ATGGGAAAC - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr4:104577461_104577469delATGGGAAAC ENST00000304883.2 - 3 910_918 c.770_778delGTTTCCCAT c.(769-780)ttg>t p.CFPL257del NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 257 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) ATGATGAGCAATGGGAAACAGTACACCAG 0.392 11 544 --- --- --- --- NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 333 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AATTCCTACTCCACCACCACCAC 0.522 7 346 --- --- --- --- RP11-455G16.1 0 broad.mit.edu 37 4 120116876 120116877 + Frame_Shift_Ins INS - - A rs148438378 by1000genomes TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr4:120116876_120116877insA ENST00000326780.3 - 2 290_291 c.236_237insT c.(235-237)tatfs p.Y79fs RP11-455G16.1_ENST00000515843.1_Intron CAAGTGGTATGAAAAAAAAATG 0.371 8 83 --- --- --- --- SOX4 6659 broad.mit.edu 37 6 21595920 21595922 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr6:21595920_21595922delCTC ENST00000244745.1 + 1 1949_1951 c.1155_1157delCTC c.(1153-1158)cac>ca p.HS385del SOX4_ENST00000543472.1_In_Frame_Del_p.HS385del NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 385 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) cctcgtcccactcctcctcttcc 0.709 30 25 --- --- --- --- BTN2A2 10385 broad.mit.edu 37 6 26384104 26384106 + In_Frame_Del DEL CTG CTG - rs115247877 byFrequency TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr6:26384104_26384106delCTG ENST00000356709.4 + 2 166_168 c.55_57delCTG c.(55-57)del p.L24del BTN2A2_ENST00000482536.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.L24del NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 24 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 cctcctcctcctgctcctcctcc 0.586 21 411 --- --- --- --- PRRC2A 7916 broad.mit.edu 37 6 31597338 31597340 + In_Frame_Del DEL AGC AGC - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr6:31597338_31597340delAGC ENST00000376033.2 + 14 2204_2206 c.1970_1972delAGC c.(1969-1974)aag>a p.KQ657del PRRC2A_ENST00000376007.4_In_Frame_Del_p.KQ657del NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 657 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CAGCTCCTGAagcagcagcagca 0.567 7 1086 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939840 31939841 + Frame_Shift_Ins INS - - G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr6:31939840_31939841insG ENST00000375331.2 + 1 233_234 c.67_68insG c.(67-69)gggfs p.G23fs STK19_ENST00000375333.2_Frame_Shift_Ins_p.G23fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 23 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 AAACCCCTCCCGGGGCGGGGGA 0.639 7 722 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34804004 34804006 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr6:34804004_34804006delCAG ENST00000192788.5 + 8 1083_1085 c.912_914delCAG c.(910-915)aac>aa p.NS304del UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.NS304del NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 304 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GCAACAGCAACAGCAGCAGCAGC 0.552 7 867 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 12 549 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr6:151358163_151358164insA ENST00000367321.3 + 26 3031_3032 c.2757_2758insA c.(2755-2760)gaaaaafs p.EK919fs NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 919 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity p.L914fs*14(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCAACCTGACAAAAAAGGTGT 0.480 8 453 --- --- --- --- RP11-252P19.1 0 broad.mit.edu 37 6 166172015 166172016 + RNA INS - - GAAGAG rs112372946 by1000genomes TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr6:166172015_166172016insGAAGAG ENST00000435810.1 + 0 194 aagaagaagaagaagaggaaga 0.421 7 6 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2963941 2963943 + In_Frame_Del DEL GGA GGA - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr7:2963941_2963943delGGA ENST00000396946.4 - 15 2267_2269 c.1864_1866delTCC c.(1864-1866)del p.S622del NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 622 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGGATTGGTGGGAGGAGGAGGAG 0.616 Mis DLBCL 7 251 --- --- --- --- INHBA 3624 broad.mit.edu 37 7 41729741 41729743 + In_Frame_Del DEL TTC TTC - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr7:41729741_41729743delTTC ENST00000242208.4 - 3 1032_1034 c.786_788delGAA c.(784-789)aaa>aa p.KK262del AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|INHBA_ENST00000464515.1_5'UTR NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 262 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ctcctcttctttcttcttcttct 0.581 TSP Lung(11;0.080) 8 170 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 9 22 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100281686 100281688 + In_Frame_Del DEL GCT GCT - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr7:100281686_100281688delGCT ENST00000275732.5 - 15 3032_3034 c.1823_1825delAGC c.(1822-1827)ctc>c p.QL608del NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 608 Gln-rich.|Poly-Gln. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) AATGCCGTGAGCTGCTGCTGCTG 0.690 7 119 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100283635 100283637 + In_Frame_Del DEL TCC TCC - rs142340746 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr7:100283635_100283637delTCC ENST00000275732.5 - 9 2223_2225 c.1014_1016delGGA c.(1012-1017)gaa>ga p.EE338del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 338 Poly-Glu. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TTCGGAAGGTTCCTCCTCCTCCT 0.675 7 309 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151970890 151970891 + Frame_Shift_Ins INS - - T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr7:151970890_151970891insT ENST00000355193.2 - 7 1129_1130 c.911_912insA c.(910-912)catfs p.H304fs KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.H304fs lysine (K)-specific methyltransferase 2C AATGATACATCTGGGTACATTT 0.436 14 925 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64952699 64952699 + Splice_Site DEL T T - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr10:64952699delT ENST00000399262.2 - 16 6293 c.6076_splice c.e16+1 p.K2025_splice JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2025 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TATGTTTACCTTTTTTTTCCT 0.373 8 365 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 11 501 --- --- --- --- ADD3 120 broad.mit.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr10:111893350delA ENST00000277900.8 + 14 2364 c.1999delA c.(1999-2001)aafs p.K669fs ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs|ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 701 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GAAAAAGAACAAAAAAAAGGA 0.333 8 645 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 10 625 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 13 601 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) atcatcatcatcctcctcctcct 0.635 9 189 --- --- --- --- CCDC73 493860 broad.mit.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:32635951delT ENST00000335185.5 - 16 1956 c.1913delA c.(1912-1914)atfs p.N638fs NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 638 p.N638fs*18(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TGGAACAGGATTTTTTTTTAT 0.313 10 327 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTCTTGCCATTTTTTTGCCT 0.363 8 839 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 12 752 --- --- --- --- C1QTNF5 114902 broad.mit.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr11:119210189_119210190insC ENST00000445041.2 - 15 3378_3379 c.583_584insG c.(583-585)catfs p.H195fs MFRP_ENST00000555262.1_3'UTR|C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR NM_001278431.1|NM_015645.3|NM_031433.2 NP_001265360.1|NP_056460.1|NP_113621.1 Q9BY79 MFRP_HUMAN C1q and tumor necrosis factor related protein 5 147 CUB 1. embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CCTCACCATGGCCCCCCCCGAG 0.589 7 483 --- --- --- --- METAP2 10988 broad.mit.edu 37 12 95877035 95877037 + In_Frame_Del DEL AAG AAG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr12:95877035_95877037delAAG ENST00000323666.5 + 3 533_535 c.304_306delAAG c.(304-306)del p.K106del METAP2_ENST00000551840.1_In_Frame_Del_p.K105del|METAP2_ENST00000550777.1_In_Frame_Del_p.K70del|METAP2_ENST00000546753.1_In_Frame_Del_p.K106del|METAP2_ENST00000261220.9_Intron NM_006838.3 NP_006829.1 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 106 Poly-Lys. N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|large_intestine(2)|lung(7)|prostate(1) 13 L-Methionine(DB00134) gaagaagaaaaagaagaagaaga 0.389 7 247 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 8 696 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 7 743 --- --- --- --- IGHV4-31 0 broad.mit.edu 37 14 106805656 106805656 + RNA DEL G G - rs112628447 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr14:106805656delG ENST00000438142.2 - 0 60 TTCTTGCACAGGAGGTCCAGG 0.502 7 164 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25328849 25328850 + RNA DEL AG AG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr15:25328849_25328850delAG ENST00000546682.1 + 0 320 SNHG14_ENST00000549804.2_RNA NR_003361.1 ATCAGGGGCTAGAGAGAGAGAC 0.460 7 854 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74836290 74836292 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr15:74836290_74836292delCAG ENST00000346246.5 + 2 244_246 c.13_15delCAG c.(13-15)del p.Q15del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 15 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 GGAGCCACTTcagcagcagcagc 0.562 7 103 --- --- --- --- IL16 3603 broad.mit.edu 37 15 81592162 81592164 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr15:81592162_81592164delCCT ENST00000394660.2 + 14 2855_2857 c.2495_2497delCCT c.(2494-2499)gcc>g p.AS832del IL16_ENST00000560230.1_3'UTR|IL16_ENST00000302987.4_In_Frame_Del_p.AS832del|IL16_ENST00000394652.2_In_Frame_Del_p.AS131del NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 832 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity p.S792delS(1)|p.S838delS(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CACATCCGGGcctcctcctcctc 0.586 8 199 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 14 1241 --- --- --- --- RABEP2 79874 broad.mit.edu 37 16 28931200 28931202 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr16:28931200_28931202delCTG ENST00000358201.4 - 3 925_927 c.337_339delCAG c.(337-339)del p.Q113del RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 113 Poly-Gln. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCTCACAGTCCTGCTGCTGCTGC 0.640 9 249 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 12 395 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 10 334 --- --- --- --- AC005863.1 0 broad.mit.edu 37 17 14673542 14673543 + RNA INS - - T TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr17:14673542_14673543insT ENST00000379640.1 - 0 354_355 GCTGGTCCCAGTTTTTTTTTCT 0.450 7 235 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr17:56056605_56056607delTGC ENST00000584396.1 - 5 1105_1107 c.1017_1019delGCA c.(1015-1020)caa>ca p.QQ343del VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 352 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ttgttgttgttgctgctgctgct 0.463 7 993 --- --- --- --- YIPF2 78992 broad.mit.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:11038362_11038364delGCT ENST00000586748.1 - 4 393_395 c.221_223delAGC c.(220-225)ccg>c p.QP74del YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 74 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CAGAATCCCGgctgctgctgctg 0.621 9 283 --- --- --- --- ZNF44 51710 broad.mit.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:12384448delA ENST00000356109.5 - 5 884 c.766delT c.(766-768)ggfs p.W256fs ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AAACTGGGCCAAAAAAAGGCT 0.398 7 571 --- --- --- --- AKAP8L 26993 broad.mit.edu 37 19 15511839 15511841 + In_Frame_Del DEL TCT TCT - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:15511839_15511841delTCT ENST00000397410.4 - 6 894_896 c.830_832delAGA c.(829-834)aga>a p.KR277del AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_In_Frame_Del_p.KR216del NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 277 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 CCCTGCTTTCTCTTCTTCTTCTT 0.601 8 202 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36054349 36054351 + In_Frame_Del DEL CTT CTT - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:36054349_36054351delCTT ENST00000262623.3 - 2 119_121 c.91_93delAAG c.(91-93)del p.K31del NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 31 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCCACCCGCCTTCTTCTTCTTG 0.601 12 1255 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 13 676 --- --- --- --- NUCB1 4924 broad.mit.edu 37 19 49425109 49425111 + In_Frame_Del DEL AGC AGC - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:49425109_49425111delAGC ENST00000405315.4 + 12 1533_1535 c.1199_1201delAGC c.(1198-1203)aag>a p.KQ400del NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del|NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 400 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) Gagcagcggaagcagcagcagca 0.640 7 211 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 8 270 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr20:29628310_29628312delAGG ENST00000278882.3 + 6 692_694 c.312_314delAGG c.(310-315)gca>gc p.AG104del FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del|FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAGAA 0.355 10 443 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 8 1747 --- --- --- --- DGCR5 0 broad.mit.edu 37 22 18976301 18976324 + RNA DEL TATTTATTTATTTATTTATTTATT TATTTATTTATTTATTTATTTATT - rs139950802 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT ENST00000438934.1 + 0 394 DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000440005.2_RNA TGGCTGGACAtatttatttatttatttatttatttatttattta 0.411 6 11 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr22:20920814_20920816delCAG ENST00000263205.7 + 7 820_822 c.751_753delCAG c.(751-753)del p.Q262del MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.591 14 153 --- --- --- --- TFIP11 24144 broad.mit.edu 37 22 26906183 26906185 + In_Frame_Del DEL TCA TCA - rs145794160 byFrequency TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr22:26906183_26906185delTCA ENST00000407690.1 - 4 337_339 c.54_56delTGA c.(52-57)gac>ga p.DD18del TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 18 Poly-Asp. biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 CTCCCGCTCGTCATCATCATCAT 0.532 7 428 --- --- --- --- EWSR1 2130 broad.mit.edu 37 22 29694812 29694813 + Frame_Shift_Ins INS - - G TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr22:29694812_29694813insG ENST00000397938.2 + 14 1826_1827 c.1507_1508insG c.(1507-1509)gggfs p.G503fs EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.G447fs|EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.G502fs|EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.G430fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.G465fs|EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.G508fs NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 503 Arg/Gly/Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding p.R503Q(1) EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AAGAGGACCCCGGGGTTCCCGA 0.604 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 11 585 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120323 38120325 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chr22:38120323_38120325delCCT ENST00000406386.3 + 7 2015_2017 c.1760_1762delCCT c.(1759-1764)gcc>g p.AS587del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 587 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAA 0.596 7 840 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 10 175 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:37312611delC ENST00000542554.1 + 5 666 c.394delC c.(394-396)ccfs p.P135fs TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 135 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TATCACCCCACCCCCCCCACC 0.488 11 874 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50165595 50165596 + RNA INS - - AC rs59226442 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:50165595_50165596insAC ENST00000376025.2 - 0 816 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TTAAAAGGTAAacacacacaca 0.411 12 48 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 14 54 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:70360680_70360682delGCA ENST00000333646.6 + 42 6448_6450 c.6249_6251delGCA c.(6247-6252)cgg>cg p.RQ2083del MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2080 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) accacatccggcagcagcagcag 0.586 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 8 211 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994114 140994116 + In_Frame_Del DEL CTC CTC - rs141900922 byFrequency TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:140994114_140994116delCTC ENST00000285879.4 + 4 1210_1212 c.924_926delCTC c.(922-927)agc>ag p.SS312del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 312 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.483 HNSCC(15;0.026) 8 1652 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 7 1034 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 10 465 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 7 165 --- --- --- --- SLC9B1P1 0 broad.mit.edu 37 Y 13501672 13501674 + In_Frame_Del DEL AAT AAT - TCGA-2J-AABR-01A-11D-A40W-08 TCGA-2J-AABR-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 534d051f-0b40-486a-8f77-646bf003d3d0 4c28dd95-5359-4c03-b338-7038de30008f g.chrY:13501672_13501674delAAT ENST00000331172.6 - 4 534_536 c.535_537delATT c.(535-537)del p.I179del TCTTACCAACAATATTTGATTCA 0.241 6 8 --- --- --- ---