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 ESYT1 23344 broad.mit.edu 37 12 56525276 56525276 + Missense_Mutation SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:56525276C>T ENST00000394048.5 + 6 994 c.730C>T c.(730-732)Cgg>Tgg p.R244W ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W|ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 244 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 TGGCGTTTTGCGGGTGATACT 0.517000 9 1007 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32499427 32499427 + Silent SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr21:32499427G>A ENST00000286827.3 - 27 4560 c.4089C>T c.(4087-4089)tcC>tcT p.S1363S TIAM1_ENST00000541036.1_Silent_p.S1303S NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1363 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CTTCAGACTCGGATTTTACAT 0.453000 27 258 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 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 ATTCTACACCGTCTCCTACCA 0.353000 7 1262 0 0 1 0 0 TRBV6-8 0 broad.mit.edu 37 7 142124387 142124387 + RNA SNP T T C TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr7:142124387T>C ENST00000390376.2 - 0 90 GTCTTCAGGATGTGGAATTTT 0.522000 5 350 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52864001 52864001 + RNA SNP A A G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr13:52864001A>G ENST00000451298.1 - 0 168 RP11-64P12.8_ENST00000606031.1_RNA GAAAAAATAAAGCAATAGCTA 0.313000 5 179 0 0 1 0 0 TMEM216 51259 broad.mit.edu 37 11 61161357 61161357 + Splice_Site SNP T T G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr11:61161357T>G ENST00000515837.2 + 3 1083 c.136_splice c.e3-1 p.G46_splice TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice Q9P0N5 TM216_HUMAN transmembrane protein 216 39 integral to membrane p.G46G(3) endometrium(1)|large_intestine(2)|lung(1)|prostate(2) 6 TATTGGCAGGTGTCCTGCTAC 0.438000 20 170 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 6 296 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 19 256 1.00905e-13 1.07133e-13 1 1 0 GPR112 139378 broad.mit.edu 37 X 135426583 135426583 + Missense_Mutation SNP A A T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chrX:135426583A>T ENST00000394143.1 + 6 1009 c.718A>T c.(718-720)Agt>Tgt p.S240C GPR112_ENST00000394141.1_Missense_Mutation_p.S35C|GPR112_ENST00000412101.1_Missense_Mutation_p.S35C|GPR112_ENST00000287534.4_Missense_Mutation_p.S177C|GPR112_ENST00000370652.1_Missense_Mutation_p.S240C NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 240 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCAAGAAAAAAGTACAACTGT 0.333000 36 111 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296600 39296600 + Missense_Mutation SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr17:39296600C>T ENST00000345847.4 - 1 139 c.140G>A c.(139-141)aGa>aAa p.R47K NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 47 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament p.R47K(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GCACTGGGGTCTGCAGCAGCT 0.682000 8 388 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 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 12 190 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 91017344 91017344 + Missense_Mutation SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr15:91017344C>T ENST00000268182.5 + 22 2678 c.2554C>T c.(2554-2556)Cgg>Tgg p.R852W IQGAP1_ENST00000560738.1_Missense_Mutation_p.R280W NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 852 IQ 4. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AAACAAAGCTCGGGATGACTA 0.423000 20 176 0 0 1 0 0 HMGN2P46 0 broad.mit.edu 37 15 45848224 45848224 + RNA SNP G G T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr15:45848224G>T ENST00000409454.1 + 0 1219 TGCAGATTTTGTTTAGCTTTT 0.318000 11 89 1.3612e-06 1.40196e-06 1 1 0 TUBA1C 84790 broad.mit.edu 37 12 49666572 49666572 + Silent SNP A A G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:49666572A>G ENST00000301072.6 + 4 1187 c.912A>G c.(910-912)aaA>aaG p.K304K TUBA1C_ENST00000541364.1_Silent_p.K374K|RP11-161H23.5_ENST00000550468.2_RNA NM_032704.3 NP_116093.1 Q9BQE3 TBA1C_HUMAN tubulin, alpha 1c 304 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1) 13 AGATGGTGAAATGTGACCCTC 0.498000 44 391 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546430 11546430 + Silent SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:11546430G>A ENST00000389362.4 - 3 617 c.582C>T c.(580-582)ccC>ccT p.P194P PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GAGGAGGTGGGGGACCTTGGG 0.607000 9 1114 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 6 181 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17653012 17653012 + Missense_Mutation SNP G G A rs149574830 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:17653012G>A ENST00000335393.4 + 11 1469 c.1331G>A c.(1330-1332)cGg>cAg p.R444Q FAM129C_ENST00000332386.5_Missense_Mutation_p.R444Q|FAM129C_ENST00000599124.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000599164.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000600871.1_Missense_Mutation_p.R390Q|FAM129C_ENST00000352727.3_Missense_Mutation_p.R444Q|FAM129C_ENST00000300971.2_Missense_Mutation_p.R444Q|FAM129C_ENST00000601861.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000449408.2_Missense_Mutation_p.R170Q|FAM129C_ENST00000595684.1_Missense_Mutation_p.R444Q NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 444 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 GAGGCCGAGCGGAGCCGGGGG 0.607000 38 790 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140481423 140481423 + Missense_Mutation SNP C C G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr7:140481423C>G ENST00000288602.6 - 11 1445 c.1385G>C c.(1384-1386)aGa>aCa p.R462T NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 462 Protein kinase. R -> I (in colorectal cancer). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.R462I(2)|p.R462K(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) AGATCCAATTCTTTGTCCCAC 0.393000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 55 377 0 0 1 0 0 ALG1L 200810 broad.mit.edu 37 3 125651539 125651539 + Silent SNP A A C rs147593769 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr3:125651539A>C ENST00000340333.3 - 3 277 c.114T>G c.(112-114)ctT>ctG p.L38L NM_001015050.2|NM_001195223.1 NP_001015050.2|NP_001182152.1 Q6GMV1 ALG1L_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 38 transferase activity, transferring glycosyl groups large_intestine(2)|lung(2) 4 CATCAAGAGTAAGTTGTTCAA 0.423000 5 308 0 0 1 0 0 TRBV6-8 0 broad.mit.edu 37 7 142124388 142124388 + RNA SNP G G C TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr7:142124388G>C ENST00000390376.2 - 0 89 TCTTCAGGATGTGGAATTTTG 0.522000 5 346 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141012490 141012490 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr9:141012490G>A ENST00000277549.5 + 43 6021 c.3452G>A c.(3451-3453)cGt>cAt p.R1151H CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1957H|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1957H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1958H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1956H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1955H Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1957 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCCCTGGAGCGTGGCCACTCC 0.617000 6 57 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 9 570 0 0 1 0 0 WNT5A 7474 broad.mit.edu 37 3 55508430 55508430 + Missense_Mutation SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr3:55508430C>T ENST00000474267.1 - 5 1140 c.619G>A c.(619-621)Gcc>Acc p.A207T WNT5A_ENST00000264634.4_Missense_Mutation_p.A207T|WNT5A_ENST00000497027.1_Missense_Mutation_p.A192T P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 207 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) GAGCCCTTGGCGTGGATGCGC 0.682000 4 122 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606351 84606351 + Missense_Mutation SNP G G T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr9:84606351G>T ENST00000344803.2 + 4 1013 c.966G>T c.(964-966)aaG>aaT p.K322N NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CCATCTTGAAGACTTTTCCGG 0.468000 11 809 3.07112e-06 3.12563e-06 1 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56702324 56702324 + Silent SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:56702324G>A ENST00000586855.2 - 4 934 c.621C>T c.(619-621)gaC>gaT p.D207D ZSCAN5B_ENST00000358992.3_Silent_p.D207D A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 207 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CACCTGTTACGTCAATACTCT 0.507000 36 452 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 237024423 237024423 + Splice_Site SNP A A T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:237024423A>T ENST00000366577.5 + 20 2437 c.e20-1 MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding p.?(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) tgtcttttttAGGGCATTGAA 0.323000 11 135 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382385 152382385 + Missense_Mutation SNP G G T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:152382385G>T ENST00000271835.3 - 3 1235 c.1173C>A c.(1171-1173)agC>agA p.S391R RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 391 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCAGGGTTGCTCACTTGCA 0.602000 42 512 2.35958e-20 2.55251e-20 1 1 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 4 240 0 0 1 0 0 TPSD1 23430 broad.mit.edu 37 16 1306801 1306801 + Silent SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:1306801C>T ENST00000211076.3 + 3 406 c.258C>T c.(256-258)gaC>gaT p.D86D TPSD1_ENST00000397534.2_Silent_p.D79D NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 86 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) TGCCCAGGGACATCAAGGATC 0.682000 6 151 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108434807 108434807 + Splice_Site SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr10:108434807G>A ENST00000263054.6 - 14 1947 c.1940_splice c.e14+1 p.T647_splice SORCS1_ENST00000369698.1_Splice_Site_p.T182_splice|SORCS1_ENST00000344440.6_Splice_Site_p.T647_splice NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 647 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TTCAACTTACGTCATGATGAG 0.403000 38 344 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10366281 10366281 + Missense_Mutation SNP C C A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr17:10366281C>A ENST00000255381.2 - 11 1019 c.909G>T c.(907-909)atG>atT p.M303I CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 303 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGATCAGAAGCATTTCTGAAC 0.433000 15 242 1.15088e-07 1.19248e-07 1 1 0 WSCD2 9671 broad.mit.edu 37 12 108604027 108604027 + Silent SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:108604027C>T ENST00000332082.4 + 5 1445 c.627C>T c.(625-627)ggC>ggT p.G209G WSCD2_ENST00000549903.1_Silent_p.G209G|WSCD2_ENST00000547525.1_Silent_p.G209G|WSCD2_ENST00000261400.3_Silent_p.G209G Q2TBF2 WSCD2_HUMAN WSC domain containing 2 209 WSC 1. integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TGTGCGGCGGCGCCAACCGCC 0.682000 4 57 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31752372 31752372 + Splice_Site SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr6:31752372C>T ENST00000375663.3 - 11 1907 c.1467_splice c.e11+1 p.E489_splice VARS_ENST00000444930.2_Splice_Site_p.E194_splice NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 489 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GGGGGCGCACCTCAATGTCAG 0.582000 13 264 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 7 322 0 0 1 0 0 PICK1 9463 broad.mit.edu 37 22 38470363 38470363 + Missense_Mutation SNP G G C TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr22:38470363G>C ENST00000404072.3 + 12 1231 c.884G>C c.(883-885)cGc>cCc p.R295P PICK1_ENST00000356976.3_Missense_Mutation_p.R295P NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 295 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TATGAGTACCGCCTGATCCTG 0.682000 OREG0026555 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 173 0 0 1 0 0 CRMP1 1400 broad.mit.edu 37 4 5837708 5837708 + Silent SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr4:5837708C>T ENST00000324989.7 - 11 1645 c.1557G>A c.(1555-1557)tcG>tcA p.S519S CRMP1_ENST00000397890.2_Silent_p.S405S|CRMP1_ENST00000512574.1_Silent_p.S403S|CRMP1_ENST00000511535.1_5'UTR NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 405 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding p.S519S(1) NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) CGTCGGCATCCGAGCCCACGG 0.522000 5 515 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135020488 135020488 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr10:135020488G>A ENST00000368571.2 + 18 3705 c.3415G>A c.(3415-3417)Gtg>Atg p.V1139M KNDC1_ENST00000368572.2_Intron|KNDC1_ENST00000304613.3_Intron Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 0 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GCTCTGCCCCGTGAGGCAGTA 0.547000 23 116 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 12 114 0 0 1 0 0 MLLT11 10962 broad.mit.edu 37 1 151039879 151039879 + Missense_Mutation SNP A A G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:151039879A>G ENST00000368921.3 + 2 2981 c.179A>G c.(178-180)aAc>aGc p.N60S CDC42SE1_ENST00000439374.2_Intron NM_006818.3 NP_006809.1 Q13015 AF1Q_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 60 positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent upper_aerodigestive_tract(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CAGGAGAAAAACCCTGAAGGT 0.532000 21 523 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 8 282 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52864028 52864028 + RNA SNP C C T rs138483057 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr13:52864028C>T ENST00000451298.1 - 0 141 RP11-64P12.8_ENST00000606031.1_RNA TAGAATGATACTCCAAAGGAA 0.313000 5 186 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47041634 47041634 + Missense_Mutation SNP C C G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr3:47041634C>G ENST00000450053.3 + 27 4224 c.4045C>G c.(4045-4047)Ctc>Gtc p.L1349V NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1349 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) TTACCATGCTCTCTCCCCATT 0.607000 25 549 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78337556 78337556 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr17:78337556G>A ENST00000582970.1 + 41 11859 c.11716G>A c.(11716-11718)Ggg>Agg p.G3906R RNF213_ENST00000508628.2_Missense_Mutation_p.G3955R|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.G1979R NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GCAAGGCAGCGGGAGCCTGGC 0.617000 9 101 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7548911 7548911 + Silent SNP G G A rs140225151 byFrequency TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:7548911G>A ENST00000313599.3 - 8 1887 c.1830C>T c.(1828-1830)gaC>gaT p.D610D CD163L1_ENST00000396630.1_Silent_p.D610D|CD163L1_ENST00000416109.2_Silent_p.D620D Q9NR16 C163B_HUMAN CD163 molecule-like 1 610 SRCR 6. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TGTTCCAGCCGTCATCACACA 0.567000 13 142 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274343 39274343 + Silent SNP A A G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr17:39274343A>G ENST00000391413.2 - 1 263 c.225T>C c.(223-225)tgT>tgC p.C75C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 75 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCTGGGGCGACAGCAGCTGG 0.657000 7 310 0 0 1 0 0 DENND1A 57706 broad.mit.edu 37 9 126202749 126202749 + Missense_Mutation SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr9:126202749C>T ENST00000373624.2 - 19 1579 c.1378G>A c.(1378-1380)Gcc>Acc p.A460T DENND1A_ENST00000373620.3_Missense_Mutation_p.A460T|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.A428T|DENND1A_ENST00000542603.1_Missense_Mutation_p.A202T|DENND1A_ENST00000373618.1_Missense_Mutation_p.A428T|DENND1A_ENST00000394215.2_Missense_Mutation_p.A430T NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 460 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 GGGGTGGGGGCGCAGCCATTC 0.622000 18 240 0 0 1 0 0 PNMAL2 57469 broad.mit.edu 37 19 46998384 46998384 + Silent SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:46998384G>A ENST00000599531.1 - 1 1371 c.339C>T c.(337-339)gaC>gaT p.D113D AC011484.1_ENST00000377652.3_Silent_p.P165P|PNMAL2_ENST00000377655.2_Silent_p.D113D|PNMAL2_ENST00000594749.1_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 113 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GCGTGGGCCCGTCATCCAGCA 0.692000 57 541 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45502791 45502791 + Missense_Mutation SNP A A G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr21:45502791A>G ENST00000291574.4 + 14 2021 c.1846A>G c.(1846-1848)Atg>Gtg p.M616V NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 616 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 GTACAGCCAGATGCCTGTGCC 0.517000 6 513 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143092446 143092446 + Silent SNP C C T rs148018022 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr7:143092446C>T ENST00000275815.3 - 12 2135 c.2049G>A c.(2047-2049)ccG>ccA p.P683P NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 683 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GCAGAATATGCGGGTGGCTAA 0.542000 OREG0018405 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 1637 0 0 1 0 0 PPP2R5C 5527 broad.mit.edu 37 14 102391518 102391518 + Missense_Mutation SNP G G A rs147942579 byFrequency TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr14:102391518G>A ENST00000422945.2 + 16 1673 c.1577G>A c.(1576-1578)cGc>cAc p.R526H PPP2R5C_ENST00000328724.5_Missense_Mutation_p.R511H|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.R456H|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.R495H NM_001161725.1 NP_001155197.1 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma 495 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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTTGCACGCCGCAAGTCCGAG 0.572000 7 790 0 0 1 0 0 PBX2 5089 broad.mit.edu 37 6 32157563 32157563 + Missense_Mutation SNP C C A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr6:32157563C>A ENST00000375050.4 - 1 400 c.130G>T c.(130-132)Gtc>Ttc p.V44F NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 44 transcription factor binding p.V44F(2) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 CCTCCCGGGACCCCCCCGCTA 0.711000 5 140 0.00116845 0.00117528 1 1 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 5 121 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158817666 158817666 + Missense_Mutation SNP G G A rs146787746 byFrequency TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:158817666G>A ENST00000368141.4 + 6 1397 c.1136G>A c.(1135-1137)cGc>cAc p.R379H NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 379 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) ACAGTTGACCGCAAGCTGAAA 0.443000 6 563 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62296207 62296207 + Silent SNP A A T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr11:62296207A>T ENST00000378024.4 - 5 5956 c.5682T>A c.(5680-5682)ccT>ccA p.P1894P AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1894 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GCTCAACATCAGGCACCTCCA 0.517000 33 820 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23111370 23111370 + Silent SNP C C A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:23111370C>A ENST00000400191.3 + 3 630 c.612C>A c.(610-612)ggC>ggA p.G204G EPHB2_ENST00000544305.1_Silent_p.G204G|EPHB2_ENST00000374632.3_Silent_p.G204G|EPHB2_ENST00000374630.3_Silent_p.G204G|EPHB2_ENST00000374627.1_Silent_p.G198G NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 204 Cys-rich. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) TCCAGAATGGCGCCATCTTCC 0.627000 26 147 9.86323e-18 1.05371e-17 1 1 0 COL6A6 131873 broad.mit.edu 37 3 130354557 130354557 + Silent SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr3:130354557C>T ENST00000358511.6 + 27 5074 c.5043C>T c.(5041-5043)gaC>gaT p.D1681D COL6A6_ENST00000453409.2_Silent_p.D1681D NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1681 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AGATTGGGGACCCTGGTGGTC 0.373000 9 141 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 19 260 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 4 198 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22657649 22657649 + RNA SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr22:22657649G>A ENST00000426066.1 + 0 61 NR_027293.1 GGAAAATCGGGCCCCGATACT 0.512000 9 160 0 0 1 0 0 KRTAP9-4 85280 broad.mit.edu 37 17 39406130 39406130 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr17:39406130G>A ENST00000334109.2 + 1 192 c.158G>A c.(157-159)cGc>cAc p.R53H NM_033191.2 NP_149461.2 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 53 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament p.R53H(4) breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCTTGCTGCCGCCCAACTTGC 0.642000 6 315 0 0 1 0 0 RPL32P3 0 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr3:129116038C>T ENST00000514355.1 - 0 412 lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 8 421 0 0 1 0 0 FAM8A1 51439 broad.mit.edu 37 6 17608527 17608527 + Missense_Mutation SNP T T C rs141097358 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr6:17608527T>C ENST00000259963.3 + 5 1254 c.1199T>C c.(1198-1200)aTt>aCt p.I400T NM_016255.2 NP_057339.1 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 400 RDD. integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) GCTTATGACATTGTAGCAGGA 0.398000 6 364 0 0 1 0 0 C21orf128 150147 broad.mit.edu 37 21 43524046 43524046 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr21:43524046G>A ENST00000329015.2 - 2 338 c.187C>T c.(187-189)Cac>Tac p.H63Y UMODL1_ENST00000400427.1_Silent_p.V384V|UMODL1_ENST00000408989.2_Silent_p.V456V|UMODL1_ENST00000400424.1_Silent_p.V384V|UMODL1_ENST00000408910.2_Silent_p.V456V chromosome 21 open reading frame 128 lung(4) 4 TGCAGATCGTGTCTCTCCAGG 0.597000 7 509 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201079379 201079379 + Missense_Mutation SNP G G C TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:201079379G>C ENST00000362061.3 - 2 397 c.171C>G c.(169-171)atC>atG p.I57M CACNA1S_ENST00000367338.3_Missense_Mutation_p.I57M NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 57 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGGTGAGCAAGATGATCGTCT 0.577000 38 290 0 0 1 0 0 SOHLH2 54937 broad.mit.edu 37 13 36767849 36767849 + Silent SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr13:36767849C>T ENST00000379881.3 - 4 427 c.339G>A c.(337-339)ggG>ggA p.G113G SOHLH2_ENST00000317764.6_Silent_p.G113G|SOHLH2_ENST00000554962.1_Silent_p.G190G|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.G190G NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) CCATTCCATGCCCTGAAATAC 0.308000 17 562 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237948081 237948081 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:237948081G>A ENST00000366574.2 + 90 13386 c.13069G>A c.(13069-13071)Gcc>Acc p.A4357T RYR2_ENST00000542537.1_Missense_Mutation_p.A4341T|RYR2_ENST00000360064.6_Missense_Mutation_p.A4363T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4357 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.A4355T(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCTGGAAGCCGCCCTGCCCTC 0.532000 49 203 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75974724 75974724 + Silent SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr15:75974724G>A ENST00000308508.5 - 8 4952 c.4860C>T c.(4858-4860)taC>taT p.Y1620Y NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1620 Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GCACCACACGGTAGAGCAGGA 0.667000 5 251 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 498206 498206 + Missense_Mutation SNP C C G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:498206C>G ENST00000399788.2 - 1 414 c.52G>C c.(52-54)Gag>Cag p.E18Q KDM5A_ENST00000382815.4_Missense_Mutation_p.E18Q NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 18 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 ACGGGGCACTCTGGCGGTGGC 0.677000 T NUP98 AML 16 177 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855197 53855197 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:53855197G>A ENST00000458035.1 + 4 1386 c.1269G>A c.(1267-1269)atG>atA p.M423I ZNF845_ENST00000595091.1_Missense_Mutation_p.M423I NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TCAGTCAGATGTCATCCCTTG 0.413000 6 622 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83847927 83847927 + Missense_Mutation SNP A A G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr6:83847927A>G ENST00000349129.2 + 21 4426 c.4166A>G c.(4165-4167)aAa>aGa p.K1389R DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.K1370R|DOPEY1_ENST00000369739.3_Missense_Mutation_p.K1380R NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1389 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TCTGCCATCAAAGCCATCTTG 0.373000 28 535 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62293318 62293318 + Silent SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr11:62293318G>A ENST00000378024.4 - 5 8845 c.8571C>T c.(8569-8571)ggC>ggT p.G2857G AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2857 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTACCTTAGGGCCTGTAACAT 0.453000 31 726 0 0 1 0 0 CEBPZ 10153 broad.mit.edu 37 2 37455921 37455921 + Missense_Mutation SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr2:37455921C>T ENST00000234170.5 - 2 560 c.415G>A c.(415-417)Gtg>Atg p.V139M NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 139 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) TTATTTTTCACCTTATTAACT 0.313000 37 468 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27949709 27949709 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr9:27949709G>A ENST00000379992.2 - 6 1410 c.961C>T c.(961-963)Cgc>Tgc p.R321C LINGO2_ENST00000308675.3_Missense_Mutation_p.R321C NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 321 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CGTAGGAAGCGGAGCCCTTGG 0.527000 26 308 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 15 114 0 0 1 0 0 RPL32P3 0 broad.mit.edu 37 3 129116000 129116000 + RNA SNP A A G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr3:129116000A>G ENST00000514355.1 - 0 412 lung(1) 1 GGGAAGAAGTAGCCCCAGGTG 0.542000 7 532 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49049685 49049685 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr3:49049685G>A ENST00000395474.3 + 2 1088 c.808G>A c.(808-810)Gac>Aac p.D270N WDR6_ENST00000448293.1_Missense_Mutation_p.D189N|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 240 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) GAAGGTGGGCGACCTGCGAGT 0.552000 52 429 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32774494 32774494 + Missense_Mutation SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr2:32774494C>T ENST00000421745.2 + 65 13224 c.13090C>T c.(13090-13092)Ctc>Ttc p.L4364F NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4364 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TCTCGAGCTTCTCAGTCAGTC 0.433000 42 413 0 0 1 0 0 TRBV6-8 0 broad.mit.edu 37 7 142124389 142124389 + RNA SNP T T C TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr7:142124389T>C ENST00000390376.2 - 0 88 CTTCAGGATGTGGAATTTTGG 0.522000 5 343 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145620538 145620538 + Silent SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr8:145620538C>T ENST00000349769.3 - 28 3223 c.3129G>A c.(3127-3129)ccG>ccA p.P1043P NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 1043 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) TGCGGGCACACGGCGTGTTGG 0.632000 13 123 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46902721 46902721 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr21:46902721G>A ENST00000359759.4 + 14 2953 c.2932G>A c.(2932-2934)Gcc>Acc p.A978T COL18A1_ENST00000400337.2_Missense_Mutation_p.A563T|COL18A1_ENST00000355480.5_Missense_Mutation_p.A743T P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 978 Triple-helical region 3 (COL3). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) TGAAGCAGGCGCCCCAGGACA 0.592000 19 196 0 0 1 0 0 CCL26 10344 broad.mit.edu 37 7 75401253 75401253 + Nonsense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr7:75401253G>A ENST00000394905.2 - 3 399 c.142C>T c.(142-144)Cga>Tga p.R48* CCL26_ENST00000005180.4_Nonsense_Mutation_p.R48* NM_006072.4 NP_006063.1 Q9Y258 CCL26_HUMAN chemokine (C-C motif) ligand 26 48 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity lung(3) 3 TCATAGCTTCGCACCCAGGTC 0.527000 36 314 0 0 1 0 0 SDR9C7 121214 broad.mit.edu 37 12 57323240 57323240 + Nonsense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:57323240G>A ENST00000293502.1 - 3 801 c.658C>T c.(658-660)Cga>Tga p.R220* NM_148897.2 NP_683695.1 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, member 7 220 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 CAAAGCTTTCGCATGCGTGAC 0.562000 48 439 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 20 265 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 8 513 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83704515 83704515 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:83704515G>A ENST00000566620.1 + 9 1512 c.1222G>A c.(1222-1224)Ggg>Agg p.G408R CDH13_ENST00000428848.3_Missense_Mutation_p.G369R|CDH13_ENST00000268613.10_Missense_Mutation_p.G455R NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 408 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CGGAAACCCCGGGCAGAGCTT 0.498000 57 513 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180805698 180805698 + Silent SNP C C A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:180805698C>A ENST00000367590.4 + 11 1545 c.1347C>A c.(1345-1347)gcC>gcA p.A449A XPR1_ENST00000367589.3_Intron NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 449 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 GTGTGCGGGCCATTGTTCAGT 0.403000 27 523 2.4375e-19 2.62031e-19 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 9 571 0 0 1 0 0 C12orf66 144577 broad.mit.edu 37 12 64588215 64588215 + Missense_Mutation SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:64588215C>T ENST00000311915.8 - 3 772 c.745G>A c.(745-747)Gtg>Atg p.V249M C12orf66_ENST00000398055.3_Missense_Mutation_p.V249M|C12orf66_ENST00000544871.1_Missense_Mutation_p.V196M Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 249 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 GGAGGCTGCACGGCCTTCTGA 0.493000 28 273 0 0 1 0 0 CLU 1191 broad.mit.edu 37 8 27462692 27462692 + Missense_Mutation SNP T T C TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr8:27462692T>C ENST00000316403.10 - 5 983 c.578A>G c.(577-579)gAc>gGc p.D193G CLU_ENST00000560366.1_Missense_Mutation_p.D245G|CLU_ENST00000523500.1_Missense_Mutation_p.D193G|CLU_ENST00000546343.1_Missense_Mutation_p.D204G|CLU_ENST00000405140.3_Missense_Mutation_p.D193G P10909 CLUS_HUMAN clusterin 193 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) GAAGAACCTGTCCTGGAAGAG 0.612000 7 198 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6653418 6653418 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr11:6653418G>A ENST00000299441.3 - 6 3736 c.3325C>T c.(3325-3327)Ccc>Tcc p.P1109S RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1109 Cadherin 10. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGAAGGTGGGATCCTCAGAC 0.607000 5 103 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 4 202 0 0 1 0 0 ABCD1 215 broad.mit.edu 37 X 153006119 153006119 + Silent SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chrX:153006119C>T ENST00000218104.3 + 7 2125 c.1726C>T c.(1726-1728)Ctg>Ttg p.L576L U52111.14_ENST00000434284.1_RNA NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 576 ABC transporter. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGAGCAGGACCTGGAAGCCAT 0.637000 11 276 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37948837 37948837 + Silent SNP A A T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:37948837A>T ENST00000373087.6 + 6 1541 c.1425A>T c.(1423-1425)ggA>ggT p.G475G NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 475 Pro-rich. angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTCCCTATGGATCTGAGCTCC 0.677000 52 330 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24868942 24868942 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr13:24868942G>A ENST00000424834.2 + 12 3619 c.3146G>A c.(3145-3147)cGc>cAc p.R1049H SPATA13_ENST00000382095.4_Missense_Mutation_p.R424H|SPATA13_ENST00000399949.2_Missense_Mutation_p.R346H|SPATA13_ENST00000343003.6_Missense_Mutation_p.R368H|SPATA13_ENST00000382108.3_Missense_Mutation_p.R1049H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R284H Q96N96 SPT13_HUMAN spermatogenesis associated 13 424 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity p.R424H(1) breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) ATCAACGAGCGCAAGCGCAAG 0.498000 6 245 0 0 1 0 0 AL445989.1 0 broad.mit.edu 37 13 64321208 64321208 + Missense_Mutation SNP T T A rs141510771 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr13:64321208T>A ENST00000453638.2 + 1 275 c.275T>A c.(274-276)tTc>tAc p.F92Y p.F92Y(2) endometrium(2)|lung(1)|urinary_tract(1) 4 ggaactggcttcggctgtggg 0.557000 30 215 0 0 1 0 0 APOA1BP 128240 broad.mit.edu 37 1 156562457 156562457 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:156562457G>A ENST00000368235.3 + 4 554 c.511G>A c.(511-513)Gca>Aca p.A171T APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368233.3_Missense_Mutation_p.A171T|APOA1BP_ENST00000368234.3_Missense_Mutation_p.A171T NM_144772.2 NP_658985.2 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 171 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGAAATGCCCGCAGAGGTAGG 0.517000 6 473 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_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) 15 168 3.41278e-10 3.57926e-10 1 1 0 HMCN1 83872 broad.mit.edu 37 1 186147896 186147896 + Missense_Mutation SNP T T C TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:186147896T>C ENST00000271588.4 + 104 16521 c.16292T>C c.(16291-16293)gTa>gCa p.V5431A HMCN1_ENST00000367492.2_Intron NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5431 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GACACATGTGTAGGTAAATGT 0.428000 15 344 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 6 137 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12541141 12541141 + Silent SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:12541141C>T ENST00000301547.5 - 4 2042 c.1845G>A c.(1843-1845)ccG>ccA p.P615P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 615 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TACATTCATACGGGTTCTCTC 0.403000 7 351 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62172889 62172889 + Silent SNP T T A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr15:62172889T>A ENST00000261517.5 - 73 9994 c.9921A>T c.(9919-9921)ctA>ctT p.L3307L VPS13C_ENST00000395898.3_Silent_p.L3264L|VPS13C_ENST00000395896.4_Silent_p.L3307L|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Silent_p.L3264L NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3307 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ATTCTGCATTTAGAGCATCAA 0.269000 13 127 0 0 1 0 0 PCDHGA8 0 broad.mit.edu 37 5 140773115 140773115 + Silent SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr5:140773115G>A ENST00000398604.2 + 1 735 c.735G>A c.(733-735)ccG>ccA p.P245P PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCTCACCCGATTTACCGAG 0.567000 10 577 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 16 109 0 0 1 0 0 GSTM5 2949 broad.mit.edu 37 1 110254908 110254908 + Translation_Start_Site SNP T T A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:110254908T>A ENST00000369813.1 + 0 31 GSTM5_ENST00000369812.5_De_novo_Start_OutOfFrame|GSTM5_ENST00000256593.3_De_novo_Start_OutOfFrame P46439 GSTM5_HUMAN glutathione S-transferase mu 5 xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) CTGATGCCTGTCTGCAGAATC 0.682000 72 632 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276876 71276876 + Silent SNP A A G rs36179995 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr11:71276876A>G ENST00000398531.1 + 1 268 c.243A>G c.(241-243)aaA>aaG p.K81K KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 81 7 X 4 AA repeats of C-C-X-P. keratin filament p.K81K(1) endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGGGCTCCAAAGGGGGCTGTG 0.682000 19 457 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57193838 57193838 + Silent SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr4:57193838G>A ENST00000504228.1 + 9 3675 c.3570G>A c.(3568-3570)gcG>gcA p.A1190A KIAA1211_ENST00000264229.6_Silent_p.A1190A|KIAA1211_ENST00000541073.1_Silent_p.A1183A Q6ZU35 K1211_HUMAN KIAA1211 1190 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CTCCCCCAGCGCCGCTGGTAA 0.483000 9 752 0 0 1 0 0 PROP1 5626 broad.mit.edu 37 5 177421284 177421284 + Missense_Mutation SNP C C A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr5:177421284C>A ENST00000308304.2 - 2 473 c.165G>T c.(163-165)agG>agT p.R55S NM_006261.4 NP_006252.3 O75360 PROP1_HUMAN PROP paired-like homeobox 1 55 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(9)|stomach(1) 13 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGGGGAGAACCTTGATCTCC 0.662000 12 90 3.07112e-06 3.12563e-06 1 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 12 81 0 0 1 0 0 EIF2B2 8892 broad.mit.edu 37 14 75469848 75469848 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr14:75469848G>A ENST00000266126.5 + 1 235 c.155G>A c.(154-156)aGc>aAc p.S52N NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 52 S -> R (in Ref. 2; AAC42002). cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) CACCGCTGGAGCAACGCGGGT 0.672000 11 167 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577123 7577123 + Missense_Mutation SNP A A G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr17:7577123A>G ENST00000420246.2 - 8 947 c.815T>C c.(814-816)gTg>gCg p.V272A TP53_ENST00000269305.4_Missense_Mutation_p.V272A|TP53_ENST00000455263.2_Missense_Mutation_p.V272A|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272A|TP53_ENST00000359597.4_Missense_Mutation_p.V272A NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 272 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (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.0?(8)|p.V272E(8)|p.V272A(7)|p.V272G(6)|p.?(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271fs*73(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACAAACACGCACCTCAAAGCT 0.532000 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) 15 101 0 0 1 0 0 DSCR4 10281 broad.mit.edu 37 21 39493319 39493319 + Missense_Mutation SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr21:39493319C>T ENST00000328264.3 - 1 135 c.31G>A c.(31-33)Gaa>Aaa p.E11K DSCR4_ENST00000398948.1_Missense_Mutation_p.E11K NM_005867.2 NP_005858.1 P56555 DSCR4_HUMAN Down syndrome critical region gene 4 11 large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 6 atccggggttcatcatctctc 0.498000 16 166 0 0 1 0 0 FAM8A1 51439 broad.mit.edu 37 6 17608519 17608519 + Silent SNP T T C TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr6:17608519T>C ENST00000259963.3 + 5 1246 c.1191T>C c.(1189-1191)gcT>gcC p.A397A NM_016255.2 NP_057339.1 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 397 RDD. integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) ATCGAACAGCTTATGACATTG 0.383000 5 389 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39752115 39752115 + Silent SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:39752115G>A ENST00000395670.3 - 8 1499 c.1080C>T c.(1078-1080)aaC>aaT p.N360N KIF21A_ENST00000544797.2_Silent_p.N360N|KIF21A_ENST00000541463.2_Silent_p.N360N|KIF21A_ENST00000361961.3_Silent_p.N360N|KIF21A_ENST00000361418.5_Silent_p.N360N Q7Z4S6 KI21A_HUMAN kinesin family member 21A 360 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) ATTTCAGGGTGTTTAACGTTT 0.388000 10 724 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296616 39296616 + Missense_Mutation SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr17:39296616C>T ENST00000345847.4 - 1 123 c.124G>A c.(124-126)Gtg>Atg p.V42M NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 42 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 CAGCTGGACACACAGCAGCTG 0.677000 9 383 0 0 1 0 0 USP39 10713 broad.mit.edu 37 2 85857980 85857980 + Missense_Mutation SNP C C T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr2:85857980C>T ENST00000323701.6 + 6 870 c.860C>T c.(859-861)cCt>cTt p.P287L USP39_ENST00000409025.1_Missense_Mutation_p.P287L|USP39_ENST00000409766.3_Missense_Mutation_p.P287L|USP39_ENST00000409470.1_Missense_Mutation_p.P287L|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Missense_Mutation_p.P184L NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 287 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 CTCTGGAACCCTCGAAATTTC 0.438000 41 554 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79854551 79854551 + Nonsense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr5:79854551G>A ENST00000338682.3 - 5 1960 c.1288C>T c.(1288-1290)Cga>Tga p.R430* NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 430 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) CCTGAACCTCGCCTTTCTAAA 0.468000 16 421 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 4 52 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185190929 185190929 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr3:185190929G>A ENST00000265026.3 + 11 2144 c.1810G>A c.(1810-1812)Gca>Aca p.A604T MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 604 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TGACTTTGCCGCAATCTTGAA 0.507000 8 1376 0 0 1 0 0 PRSS36 146547 broad.mit.edu 37 16 31161352 31161352 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:31161352G>A ENST00000268281.4 - 1 63 c.5C>T c.(4-6)gCc>gTc p.A2V PRSS36_ENST00000569305.1_Missense_Mutation_p.A2V|PRSS36_ENST00000418068.2_Missense_Mutation_p.A2V NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 2 proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 CAGGTGCCGGGCCATGGCGCT 0.652000 6 527 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48800579 48800579 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:48800579G>A ENST00000315396.7 - 14 2349 c.1667C>T c.(1666-1668)tCt>tTt p.S556F NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 556 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) GTGGCCAAGAGAGCCACGGTC 0.642000 18 219 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84211348 84211348 + Silent SNP C C T rs145469545 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:84211348C>T ENST00000378553.5 + 12 2203 c.2079C>T c.(2077-2079)agC>agT p.S693S DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 693 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 CGACTGAGAGCGCCGCCACAC 0.617000 18 497 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56424320 56424320 + Missense_Mutation SNP T T A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:56424320T>A ENST00000588751.1 - 5 887 c.863A>T c.(862-864)gAt>gTt p.D288V NLRP13_ENST00000342929.3_Missense_Mutation_p.D288V Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 288 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ATCGGGCCAATCCAAAGAAAT 0.393000 31 319 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - rs141981296 byFrequency TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:4772583_4772585delCCA ENST00000378191.4 + 2 1034_1036 c.653_655delCCA c.(652-657)gcc>g p.AT218del AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 218 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane p.T225_A226insT(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ACTGTGGccgccaccaccaccac 0.635 7 95 --- --- --- --- PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 8 365 --- --- --- --- RERE 473 broad.mit.edu 37 1 8716284 8716285 + Frame_Shift_Del DEL TC TC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 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 16 795 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 8 1013 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147092681 147092681 + Frame_Shift_Del DEL C C - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:147092681delC ENST00000234739.3 + 8 3460 c.2720delC c.(2719-2721)tcfs p.S907fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 907 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) TCCATTAAGTCCCCCCCTGTT 0.622 T """IGH@, IGL@""" B-ALL 7 849 --- --- --- --- MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:150551492_150551494delTCC ENST00000369026.2 - 1 572_574 c.513_515delGGA c.(511-516)gac>ga p.ED171del MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTACAACTCGTCCTCCTCCTCCT 0.635 7 556 --- --- --- --- PRCC 5546 broad.mit.edu 37 1 156761535 156761536 + Frame_Shift_Ins INS - - C TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:156761535_156761536insC ENST00000271526.4 + 4 1402_1403 c.1130_1131insC c.(1129-1131)gccfs p.A377fs PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 377 cell cycle|mitotic cell cycle checkpoint nucleus protein binding p.Q380fs*12(1) PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCGGCCCTGGTCCCCCCCCAGG 0.530 T TFE3 papillary renal 7 443 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 8 221 --- --- --- --- TNR 7143 broad.mit.edu 37 1 175372615 175372615 + Frame_Shift_Del DEL C C - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr1:175372615delC ENST00000367674.1 - 4 1345 c.637delG c.(637-639)tgfs p.V213fs TNR_ENST00000263525.2_Frame_Shift_Del_p.V213fs NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 213 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TCCACACACACCCCCCGGCTG 0.607 7 998 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 8 726 --- --- --- --- LOXL3 84695 broad.mit.edu 37 2 74763923 74763924 + Frame_Shift_Ins INS - - C TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr2:74763923_74763924insC ENST00000264094.3 - 5 895_896 c.824_825insG c.(823-825)gccfs p.A275fs LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000393937.2_Intron NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 275 SRCR 2. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity p.A277fs*57(1) endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 CCACTGCAGGGCCCCCCCCAGG 0.649 8 456 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 9 417 --- --- --- --- AC034193.5 0 broad.mit.edu 37 3 10035779 10035783 + RNA DEL AGTCT AGTCT - rs35714562 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr3:10035779_10035783delAGTCT ENST00000326237.3 + 0 354 GGGGAAGAGAAGTCTGATCTGACAT 0.380 8 135 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389425 1389426 + Frame_Shift_Del DEL CA CA - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr4:1389425_1389426delCA ENST00000324803.4 + 1 4086_4087 c.1126_1127delCA c.(1126-1128)cfs p.H376fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 376 Interaction with PAK1. 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) CCCGCCTGCTCACACGTGCCCA 0.639 9 1332 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 421 actomyosin structure organization actin binding|zinc ion binding p.E810fs*3(1)|p.E425fs*3(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TTAGAGAGCGGAGAGAGAGAGA 0.465 11 559 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 7 421 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 10 246 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr5:79970915delA ENST00000265081.6 + 7 1221 c.1141delA c.(1141-1143)aafs p.K383fs NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 383 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGTTAGGGACAAAAAAAAGGG 0.348 Mismatch excision repair (MMR) 7 601 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 7 43 --- --- --- --- SLC17A2 10246 broad.mit.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr6:25921520delT ENST00000377850.3 - 4 885 c.361delA c.(361-363)tgfs p.M121fs SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs O00624 NPT3_HUMAN solute carrier family 17, member 2 121 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.M121fs*7(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GCACCAAGCATTTTTTTTGCT 0.453 7 366 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 14 557 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 7 370 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146350671 146350672 + Frame_Shift_Ins INS - - T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr6:146350671_146350672insT ENST00000392299.2 + 2 488_489 c.18_19insT c.(16-21)ttttttfs p.FF6fs GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 6 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCTCCTTTTGTTTTTTTTCCC 0.644 8 914 --- --- --- --- POM121C 100101267 broad.mit.edu 37 7 75070289 75070291 + In_Frame_Del DEL TTC TTC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr7:75070289_75070291delTTC ENST00000453279.2 - 5 1032_1034 c.168_170delGAA c.(166-171)aaa>aa p.KK56del POM121C_ENST00000257665.5_In_Frame_Del_p.KK298del NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 298 Required for targeting to the nucleus and nuclear pore complex. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 CACTGTCCTTTTCTTCTTCTTCT 0.468 7 944 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr7:100284335_100284337delCCT ENST00000275732.5 - 7 1838_1840 c.629_631delAGG c.(628-633)ggc>g p.EG210del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) 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) CTCCAGCTGCcctcctcctcctc 0.700 7 239 --- --- --- --- NOM1 64434 broad.mit.edu 37 7 156743209 156743211 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr7:156743209_156743211delGAG ENST00000275820.3 + 1 793_795 c.778_780delGAG c.(778-780)del p.E264del NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 264 Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) ggacgaaagtgaggaggaggagg 0.552 8 208 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 9 191 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 9 324 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 17 288 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3964 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ggtggtggcagtggtggtggtgg 0.498 9 462 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 7 638 --- --- --- --- HECTD2 143279 broad.mit.edu 37 10 93247481 93247481 + Frame_Shift_Del DEL A A - rs57105282 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr10:93247481delA ENST00000446394.1 + 12 1249 c.1149delA c.(1147-1149)gcfs p.A383fs HECTD2_ENST00000536715.1_Intron|HECTD2_ENST00000298068.5_Frame_Shift_Del_p.A379fs|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000371667.1_Frame_Shift_Del_p.A29fs Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 379 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 CTGTAGCTGCAAAAAAAATCA 0.318 7 629 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 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 11 505 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 7 571 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 9 1175 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 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 7 553 --- --- --- --- CTNND1 1500 broad.mit.edu 37 11 57582920 57582920 + Frame_Shift_Del DEL G G - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr11:57582920delG ENST00000524630.1 + 18 3251 c.2738delG c.(2737-2739)cafs p.R913fs CTNND1_ENST00000529919.1_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.R898fs|CTNND1_ENST00000532463.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000532245.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000530094.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000426142.2_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000533667.1_Frame_Shift_Del_p.R569fs|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.R865fs|CTNND1_ENST00000532844.1_Frame_Shift_Del_p.R865fs|CTNND1_ENST00000528232.1_Frame_Shift_Del_p.R818fs|CTNND1_ENST00000532649.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000527467.1_Frame_Shift_Del_p.R596fs|CTNND1_ENST00000525902.1_Frame_Shift_Del_p.R596fs|CTNND1_ENST00000399050.4_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000531014.1_Frame_Shift_Del_p.R590fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.R838fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000534579.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.R892fs|CTNND1_ENST00000415361.2_Frame_Shift_Del_p.R818fs|CTNND1_ENST00000532787.1_Frame_Shift_Del_p.R791fs|CTNND1_ENST00000526938.1_Frame_Shift_Del_p.R898fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000529986.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000526772.1_Frame_Shift_Del_p.R590fs O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 919 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) ACACTGGATCGATCGGGGGAT 0.393 11 97 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 9 641 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 10 222 --- --- --- --- LINC00477 0 broad.mit.edu 37 12 24736734 24736735 + RNA INS - - A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:24736734_24736735insA ENST00000483544.1 - 0 367_368 NR_029451.2 AGGCGAAGAAGAAAAAAAAATC 0.569 21 259 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 7 817 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 9 489 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 213 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 19 852 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27250862 27250863 + Splice_Site DEL GT GT - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr13:27250862_27250863delGT ENST00000335327.5 + 7 894 c.e7+1 WASF3_ENST00000361042.4_Intron NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAGATACTAGGTGTGTGTGTGT 0.475 7 293 --- --- --- --- EEF1DP3 0 broad.mit.edu 37 13 32527507 32527508 + RNA DEL GT GT - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr13:32527507_32527508delGT ENST00000428783.1 + 0 1207_1208 TCTGGCCTGAGTGTGTGTGTGT 0.460 8 241 --- --- --- --- RP11-394A14.2 0 broad.mit.edu 37 13 64407210 64407211 + RNA INS - - TACTGTCAG TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr13:64407210_64407211insTACTGTCAG ENST00000607822.1 - 0 2159 AGACCTTTATATAATTGCCAAA 0.366 13 512 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 10 184 --- --- --- --- ERCC5 2073 broad.mit.edu 37 13 103524612 103524612 + Frame_Shift_Del DEL A A - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr13:103524612delA ENST00000355739.4 + 13 4166 c.2743delA c.(2743-2745)aafs p.K917fs BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CACCAAAGTGAAAAAAAAATT 0.428 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 8 290 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518337 108518338 + Frame_Shift_Ins INS - - C TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr13:108518337_108518338insC ENST00000375915.2 - 1 745_746 c.607_608insG c.(607-609)cggfs p.R203fs NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 203 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTCCTGCCCGTCCCCCCCGGCC 0.609 8 580 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086237 20086237 + RNA DEL T T - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr14:20086237delT ENST00000548261.1 + 0 51 GGTGTGTGTGTGGGGGGGTAT 0.388 17 38 --- --- --- --- G2E3 55632 broad.mit.edu 37 14 31074771 31074772 + Frame_Shift_Ins INS - - A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr14:31074771_31074772insA ENST00000206595.6 + 11 1225_1226 c.1071_1072insA c.(1069-1074)ataaaafs p.IK357fs G2E3_ENST00000553504.1_Frame_Shift_Ins_p.IK387fs|G2E3_ENST00000438909.2_Frame_Shift_Ins_p.IK311fs|G2E3_ENST00000544007.1_Intron NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 357 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 GATTCCAAATTAAAAAAAAAAC 0.272 8 141 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 7 153 --- --- --- --- EML1 2009 broad.mit.edu 37 14 100367334 100367334 + Frame_Shift_Del DEL T T - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr14:100367334delT ENST00000262233.6 + 9 1105 c.966delT c.(964-966)ggfs p.G322fs EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs|EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 322 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TTGGAATAGGTTTTTTTGACC 0.428 8 656 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 9 640 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 7 810 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctgct 0.478 9 274 --- --- --- --- CPLX3 594855 broad.mit.edu 37 15 75122558 75122560 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr15:75122558_75122560delGAG ENST00000395018.4 + 3 497_499 c.340_342delGAG c.(340-342)del p.E118del RP11-414J4.2_ENST00000564823.1_RNA NM_001030005.2 NP_001025176.1 Q8WVH0 CPLX3_HUMAN complexin 3 118 cell junction|synapse syntaxin binding large_intestine(2)|lung(2) 4 GGAGGACACAGAGGAGGAGGAGG 0.616 7 297 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93540315 93540316 + Frame_Shift_Ins INS - - A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr15:93540315_93540316insA ENST00000394196.4 + 29 4792_4793 c.3724_3725insA c.(3724-3726)aaafs p.K1242fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1242fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1242 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GGACCCTGAAGAAAAAAAAAAG 0.347 10 282 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_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 16 1142 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:15457565_15457566delAC ENST00000360151.4 - 8 1002_1003 c.1003_1004delGT c.(1003-1005)cfs p.V335fs NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGTGAGCAGACACACTCGGGA 0.446 12 393 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:20370700_20370702delCCA ENST00000302451.4 - 12 1942_1944 c.1694_1696delTGG c.(1693-1698)gct>g p.VA565del NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 565 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTGGCTTAGCCACCACCACCAC 0.478 13 1222 --- --- --- --- SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:24921737_24921739delCAG ENST00000347898.3 + 15 2383_2385 c.1761_1763delCAG c.(1759-1764)gcc>gc p.AS587del SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 587 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 14 309 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 9 1503 --- --- --- --- RP11-67H24.2 0 broad.mit.edu 37 16 32823636 32823637 + RNA INS - - C rs112857933 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:32823636_32823637insC ENST00000569859.1 + 0 373 TTGCTGGAGTGGATGTGACAGG 0.495 17 173 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175656 51175658 + In_Frame_Del DEL GCT GCT - rs13336129 byFrequency TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:51175656_51175658delGCT ENST00000440970.1 - 2 615_617 c.184_186delAGC c.(184-186)del p.S62del SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 159 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S159G(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) cgccgccgccgctgctgctgctg 0.631 11 210 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 12 165 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 7 539 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 11 242 --- --- --- --- CCDC144B 0 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 7 12 --- --- --- --- UPF3AP2 0 broad.mit.edu 37 17 20279654 20279655 + RNA INS - - T TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr17:20279654_20279655insT ENST00000578315.1 - 0 51_52 atctgtctctcttttttttttt 0.381 8 9 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65905759 65905759 + Frame_Shift_Del DEL A A - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr17:65905759delA ENST00000321892.4 + 12 3313 c.3252delA c.(3250-3252)ccfs p.P1084fs BPTF_ENST00000306378.6_Frame_Shift_Del_p.P958fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.P945fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.P1084fs Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1084 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CACGAAGTCCAAAAAAAATAA 0.308 9 253 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141031 66141032 + RNA DEL AC AC - rs76883902 by1000genomes TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr17:66141031_66141032delAC ENST00000590019.1 - 0 70 AAAAAAAAAAACATAAGCCAAA 0.337 7 258 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 12 727 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 9 156 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20359846 20359847 + RNA DEL GT GT - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:20359846_20359847delGT ENST00000593655.1 - 0 199 TTAAGTAAAGGTGTGTGTGTGT 0.421 8 400 --- --- --- --- TEAD2 8463 broad.mit.edu 37 19 49850472 49850473 + Frame_Shift_Ins INS - - G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:49850472_49850473insG ENST00000377214.4 - 8 1254_1255 c.892_893insC c.(892-894)tgcfs p.C298fs TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs Q15562 TEAD2_HUMAN TEA domain family member 2 295 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.H295fs*12(1) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAAGAAGGCATGGGGGGGGCCA 0.564 14 1029 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000595510.1_5'UTR NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 8 344 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50475364 50475365 + RNA INS - - G TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:50475364_50475365insG ENST00000602139.1 + 0 1304 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 GCACTGTGAGTGGGGAAAGGGG 0.668 21 156 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 9 342 --- --- --- --- ZNF552 79818 broad.mit.edu 37 19 58319468 58319468 + Frame_Shift_Del DEL T T - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr19:58319468delT ENST00000391701.1 - 3 1333 c.1164delA c.(1162-1164)aafs p.K388fs ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) TTTGCCTAAATTTTTTTTCAC 0.413 7 624 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29624034 29624035 + Frame_Shift_Ins INS - - G rs73621649 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr20:29624034_29624035insG ENST00000439954.2 + 4 419_420 c.73_74insG c.(73-75)tgafs p.*25fs FRG1B_ENST00000278882.3_Intron|FRG1B_ENST00000358464.4_Intron endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTCTCCAATATTGATGAGGGC 0.287 7 55 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 9 410 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCTGGACTTGCTGCTGCTGCT 0.571 11 328 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcg>gc p.AL139del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 139 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 8 363 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 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) 10 26 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chrX:149639633_149639635delGCA ENST00000370401.2 + 4 2098_2100 c.1788_1790delGCA c.(1786-1791)ctg>ct p.LQ596del MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 596 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCTTgcagctgcagcagcagcag 0.611 10 244 --- --- --- --- PLXNA3 55558 broad.mit.edu 37 X 153688565 153688565 + Frame_Shift_Del DEL G G - TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10fe2e36-6d45-4c97-b4b4-468985c589cd e8152b10-7ebb-4153-9837-dcc6185632c2 g.chrX:153688565delG ENST00000369682.3 + 2 217 c.42delG c.(40-42)gtfs p.V14fs NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 14 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.A17fs*39(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCCTTGCCGTGGGGGGGGCCC 0.682 8 264 --- --- --- ---