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 TUBBP5 643224 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 4 102 0 0 1 0 0 PARP10 84875 broad.mit.edu 37 8 145052111 145052111 + Missense_Mutation SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr8:145052111C>T ENST00000313028.7 - 10 2789 c.2695G>A c.(2695-2697)Gcc>Acc p.A899T PARP10_ENST00000524918.1_Missense_Mutation_p.A890T|PARP10_ENST00000525773.1_Missense_Mutation_p.A911T NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 899 Myc binding.|PARP catalytic. Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AAGCCGTGGGCGCAGATGTCA 0.721000 6 40 0 0 1 0 0 FBXO25 26260 broad.mit.edu 37 8 401279 401279 + Silent SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr8:401279C>T ENST00000352684.2 + 6 702 c.285C>T c.(283-285)gaC>gaT p.D95D FBXO25_ENST00000276326.5_Silent_p.D162D|FBXO25_ENST00000350302.3_Silent_p.D162D|FBXO25_ENST00000382824.1_Silent_p.D95D|RP11-91J19.3_ENST00000607549.1_RNA NM_012173.3 NP_036305.2 Q8TCJ0 FBX25_HUMAN F-box protein 25 162 IYVHKESTKE -> LILTSVLLFQ (in Ref. 4; AAF04526). nucleus|SCF ubiquitin ligase complex actin binding|ubiquitin-protein ligase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06) TTCTTGATGACCACCACAATC 0.358000 4 70 0 0 1 0 0 ZNF14 7561 broad.mit.edu 37 19 19824960 19824960 + Splice_Site SNP C C A TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr19:19824960C>A ENST00000344099.3 - 3 269 c.130_splice c.e3-1 p.G44_splice NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 44 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) CCACTTTTTTCCTAAAATGCA 0.383000 12 113 0.000219431 0.000233438 1 1 0 SPINT1 6692 broad.mit.edu 37 15 41148987 41148987 + Silent SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr15:41148987C>T ENST00000344051.4 + 11 1638 c.1404C>T c.(1402-1404)gtC>gtT p.V468V SPINT1_ENST00000431806.1_Silent_p.V452V|SPINT1_ENST00000562057.1_Silent_p.V452V O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 468 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) AGATGGCTGTCGCAGTGTTCC 0.562000 10 166 0 0 1 0 0 SMC5 23137 broad.mit.edu 37 9 72933446 72933446 + Missense_Mutation SNP G G A TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr9:72933446G>A ENST00000361138.5 + 14 1881 c.1823G>A c.(1822-1824)cGa>cAa p.R608Q NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 608 Flexible hinge. DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 CAAGAAACCCGATTAAAACAG 0.279000 8 144 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210560829 210560829 + Missense_Mutation SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr2:210560829C>T ENST00000360351.4 + 7 4441 c.3935C>T c.(3934-3936)gCa>gTa p.A1312V MAP2_ENST00000447185.1_Missense_Mutation_p.A1308V|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1312 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GTGCGTTTTGCAGCCCTAGAG 0.507000 4 121 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21357905 21357905 + Missense_Mutation SNP C C G TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr13:21357905C>G ENST00000400602.2 - 23 3447 c.3412G>C c.(3412-3414)Gaa>Caa p.E1138Q XPO4_ENST00000255305.6_Missense_Mutation_p.E1138Q NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 1138 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) ATAAATTCTTCTAAACTCTTT 0.403000 15 209 0 0 1 0 0 IGHA1 3493 broad.mit.edu 37 14 106173575 106173575 + RNA SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr14:106173575C>T ENST00000390547.2 - 0 991 ACCCGCCAAGCGGTCGATGGT 0.632000 12 48 0 0 1 0 0 CYTH2 9266 broad.mit.edu 37 19 48976636 48976636 + Splice_Site SNP G G A TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr19:48976636G>A ENST00000427476.1 + 5 734 c.e5+1 CYTH2_ENST00000452733.2_Splice_Site NM_004228.6|NM_017457.5 NP_004219.3|NP_059431.1 Q99418 CYH2_HUMAN cytohesin 2 actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 AGGCCCTCAGGTGAGTGAGGG 0.507000 8 66 0 0 1 0 0 MIR4485 100616263 broad.mit.edu 37 MT 1884 1884 + RNA SNP G G A TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chrM:1884G>A ENST00000387347.2 + 0 214 NR_039705.1 TAACTTTGCAAGGAGAGCCAA 0.403000 11 79 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236708163 236708163 + Silent SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr2:236708163C>T ENST00000409538.1 + 8 2245 c.1749C>T c.(1747-1749)ttC>ttT p.F583F AGAP1_ENST00000428334.2_Silent_p.F157F|AGAP1_ENST00000336665.5_Silent_p.F318F|AGAP1_ENST00000304032.7_Silent_p.F318F|AGAP1_ENST00000409457.1_Silent_p.F318F Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 318 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CCAACCTGTTCACCGTGAGTG 0.542000 11 69 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6318796 6318796 + Silent SNP G G A TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr6:6318796G>A ENST00000264870.3 - 2 367 c.102C>T c.(100-102)ggC>ggT p.G34G NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 34 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGGGCACCACGCCCTGAAGCT 0.617000 16 151 0 0 1 0 0 AFM 173 broad.mit.edu 37 4 74364894 74364894 + Silent SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr4:74364894C>T ENST00000226355.3 + 11 1446 c.1353C>T c.(1351-1353)ggC>ggT p.G451G NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 451 Albumin 3. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGTCTCTTGGCGAGAAAATGG 0.448000 6 60 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344734 56344734 + Missense_Mutation SNP T T C TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr11:56344734T>C ENST00000526812.2 - 1 529 c.464A>G c.(463-465)aAt>aGt p.N155S NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 AGAGAGCCCATTAAGGAAGCC 0.468000 21 140 0 0 1 0 0 SNPH 9751 broad.mit.edu 37 20 1286074 1286074 + Silent SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr20:1286074C>T ENST00000381867.1 + 7 1635 c.993C>T c.(991-993)ttC>ttT p.F331F SNPH_ENST00000381873.3_Silent_p.F287F O15079 SNPH_HUMAN syntaphilin 287 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GCCCCCGCTTCCCTGCCAGCA 0.657000 6 80 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102515241 102515241 + RNA SNP T T C rs144736022 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr15:102515241T>C ENST00000557932.1 + 0 1087 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 GGGAAGTGGTTGACCCCTCCG 0.642000 5 26 0 0 1 0 0 ZNF506 440515 broad.mit.edu 37 19 19905397 19905397 + Silent SNP A A C TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr19:19905397A>C ENST00000443905.2 - 4 1446 c.1299T>G c.(1297-1299)ctT>ctG p.L433L ZNF506_ENST00000540806.2_Silent_p.L433L|ZNF506_ENST00000450683.2_Silent_p.L401L|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000589657.1_RNA Q5JVG8 ZN506_HUMAN zinc finger protein 506 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 GAACATTTAAAAGATTTTCCA 0.363000 4 104 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24492935 24492935 + Missense_Mutation SNP C C A TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr5:24492935C>A ENST00000264463.4 - 10 2122 c.1615G>T c.(1615-1617)Gat>Tat p.D539Y CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 539 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D539Y(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CCTTCATTATCCTGTACTGTG 0.338000 HNSCC(23;0.051) 10 214 4.36969e-10 4.85521e-10 1 1 0 DUS3L 56931 broad.mit.edu 37 19 5787318 5787318 + Missense_Mutation SNP C C A TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr19:5787318C>A ENST00000309061.7 - 7 1363 c.1267G>T c.(1267-1269)Ggc>Tgc p.G423C DUS3L_ENST00000320699.8_Missense_Mutation_p.G181C NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 423 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 TGGTTCATGCCACGGACGATC 0.662000 9 39 0.0692343 0.0706473 1 1 0 ATP1A2 477 broad.mit.edu 37 1 160104348 160104348 + Silent SNP T T C TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr1:160104348T>C ENST00000361216.3 + 14 1991 c.1902T>C c.(1900-1902)ggT>ggC p.G634G ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.G634G NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 634 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TATCAGAGGGTAACGAGACTG 0.557000 9 116 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113955151 113955151 + Silent SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr2:113955151C>T ENST00000245796.6 + 13 2592 c.2397C>T c.(2395-2397)ggC>ggT p.G799G PSD4_ENST00000441564.2_Silent_p.G771G NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 799 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CGCCATGGGGCAAGCGTGGCT 0.547000 7 53 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600994 41600994 + Missense_Mutation SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr19:41600994C>T ENST00000330436.3 + 8 1292 c.1292C>T c.(1291-1293)cCc>cTc p.P431L NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 431 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GCTTTTGTGCCCTTTTCCATC 0.572000 23 144 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23926951 23926951 + Silent SNP T T C TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr19:23926951T>C ENST00000402377.3 - 4 1542 c.1401A>G c.(1399-1401)acA>acG p.T467T ZNF681_ENST00000395385.3_Silent_p.T398T NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TTCTTTTATGTGTAGTAAGGT 0.353000 10 74 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236910965 236910965 + Splice_Site SNP A A G TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr1:236910965A>G ENST00000366578.4 + 13 1572 c.e13-1 ACTN2_ENST00000546208.1_Splice_Site|ACTN2_ENST00000542672.1_Splice_Site NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CACTTTTAATAGTGAACTGGA 0.373000 7 43 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141760113 141760113 + Silent SNP C C G TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr7:141760113C>G ENST00000475668.2 + 34 4116 c.4062C>G c.(4060-4062)gtC>gtG p.V1354V MGAM_ENST00000549489.2_Silent_p.V1354V O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1354 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTCCATAGGTCTGGCCTGATT 0.428000 9 42 0 0 1 0 0 ALG1L2 644974 broad.mit.edu 37 3 129817028 129817028 + RNA SNP G G C TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr3:129817028G>C ENST00000507643.1 + 0 647 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups ACCTGGGATGGGGTGGGGACA 0.542000 3 37 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6436520 6436520 + Missense_Mutation SNP G G A rs141304328 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr12:6436520G>A ENST00000449001.2 + 14 2169 c.1675G>A c.(1675-1677)Ggc>Agc p.G559S PLEKHG6_ENST00000304581.8_Missense_Mutation_p.G121S|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.G591S|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.G591S NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 591 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.G591C(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 CTCTGGCTACGGCACTTTGAT 0.607000 OREG0021622 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 239 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157771307 157771307 + Missense_Mutation SNP G G A TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr1:157771307G>A ENST00000368176.3 - 6 1014 c.947C>T c.(946-948)aCc>aTc p.T316I FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.T316I NM_001159398.1|NM_052938.4 NP_001152870.1|NP_443170.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 316 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGGACCAAGGGTGCTGAGCAG 0.478000 5 74 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66135996 66135996 + Silent SNP G G A TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr14:66135996G>A ENST00000360689.5 + 7 2360 c.633G>A c.(631-633)gtG>gtA p.V211V FUT8_ENST00000557164.1_Silent_p.V48V|FUT8_ENST00000394585.1_Silent_p.V211V|FUT8_ENST00000394586.2_Silent_p.V211V|FUT8_ENST00000358307.2_Silent_p.V82V|FUT8_ENST00000554765.1_3'UTR NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 211 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) AAAAGCTGGTGTGTAATATCA 0.433000 8 72 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644684 20644684 + RNA SNP G G C TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr15:20644684G>C ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ACAGGGAAGGGAGACGGCCAC 0.632000 3 15 0 0 1 0 0 ZNF653 115950 broad.mit.edu 37 19 11598443 11598443 + Missense_Mutation SNP C C T rs148120504 byFrequency TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr19:11598443C>T ENST00000293771.5 - 4 971 c.835G>A c.(835-837)Gtg>Atg p.V279M CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 GGCACCGGCACGCACACCACT 0.677000 7 112 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5902991 5902991 + Silent SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr20:5902991C>T ENST00000378961.4 + 4 405 c.201C>T c.(199-201)gaC>gaT p.D67D NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 67 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GTAGAAAAGACGTCAAAGACA 0.408000 7 57 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73464799 73464799 + Silent SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr14:73464799C>T ENST00000556143.1 - 3 1428 c.708G>A c.(706-708)acG>acA p.T236T ZFYVE1_ENST00000318876.5_Silent_p.T236T|ZFYVE1_ENST00000553891.1_Silent_p.T236T NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 236 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) GGAGCCCTTCCGTATCGATCA 0.552000 4 72 0 0 1 0 0 RBBP8NL 140893 broad.mit.edu 37 20 60987715 60987715 + Missense_Mutation SNP C C T rs138112542 byFrequency TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr20:60987715C>T ENST00000252998.1 - 13 1997 c.1841G>A c.(1840-1842)cGg>cAg p.R614Q NM_080833.2 NP_543023.2 RBBP8 N-terminal like CTTCCTCTTCCGTGGTGGACC 0.706000 18 153 0 0 1 0 0 SFXN1 94081 broad.mit.edu 37 5 174939195 174939195 + Nonsense_Mutation SNP C C T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr5:174939195C>T ENST00000321442.5 + 6 846 c.592C>T c.(592-594)Caa>Taa p.Q198* NM_022754.5 NP_073591.2 Q9H9B4 SFXN1_HUMAN sideroflexin 1 198 iron ion homeostasis integral to membrane cation transmembrane transporter activity|protein binding endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3) 15 all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873) Medulloblastoma(196;0.0399)|all_neural(177;0.0663) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ATTAATGAGGCAAAGGTAAGA 0.393000 6 51 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66360426 66360426 + Missense_Mutation SNP G G T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr11:66360426G>T ENST00000333861.3 - 1 128 c.61C>A c.(61-63)Ccg>Acg p.P21T CCS_ENST00000533244.1_5'UTR NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 21 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 AGCGACAGCGGACGCAGCAGC 0.672000 OREG0021111 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 39 1.58986e-06 1.72811e-06 1 1 0 RP11-417J8.2 0 broad.mit.edu 37 1 142575240 142575240 + RNA DEL G G - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr1:142575240delG ENST00000415979.2 - 0 215 acacacaGACGGTGTTGTCAG 0.373 4 2 --- --- --- --- RP11-423O2.5 0 broad.mit.edu 37 1 142807374 142807376 + RNA DEL AAA AAA - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr1:142807374_142807376delAAA ENST00000423385.1 - 0 88 ccctgtctctaaaaaaaaaaaaa 0.468 2 4 --- --- --- --- LOC645166 645166 broad.mit.edu 37 1 148948176 148948177 + RNA DEL GA GA - rs71805475 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr1:148948176_148948177delGA ENST00000539543.1 + 0 254 NR_027355.1 agaggaagaggagagagagaga 0.411 3 6 --- --- --- --- LOC101927787 101927787 broad.mit.edu 37 1 234798912 234798913 + RNA INS - - CTCA TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr1:234798912_234798913insCTCA ENST00000441360.1 + 0 98 cattcactcacctcactcacct 0.535 2 4 --- --- --- --- LOC339529 339529 broad.mit.edu 37 1 244197196 244197196 + RNA DEL A A - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr1:244197196delA ENST00000440494.1 + 0 1053 NR_033883.1 agaaagggtcaaaaggcatat 0.428 2 4 --- --- --- --- LINC01248 102723818 broad.mit.edu 37 2 5828966 5828967 + RNA INS - - TGTG rs5829020 by1000genomes TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr2:5828966_5828967insTGTG ENST00000453678.1 - 0 144 AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA CACTGGTTCATtgtgtgtgtgt 0.376 3 5 --- --- --- --- LOC101929418 101929418 broad.mit.edu 37 2 30280085 30280085 + RNA DEL T T - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr2:30280085delT ENST00000453606.1 - 0 109 CAAATGCCTGTGAGGAAGAGC 0.517 4 2 --- --- --- --- AC140481.4 0 broad.mit.edu 37 2 131342032 131342033 + RNA INS - - A TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr2:131342032_131342033insA ENST00000457169.1 - 0 130 ctccatctcagaaaaaaaaaaa 0.510 2 4 --- --- --- --- LOC101927795 101927795 broad.mit.edu 37 2 201671924 201671924 + RNA DEL A A - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr2:201671924delA ENST00000447972.3 - 0 386 actccgtctcaaaaaaaaaaa 0.453 2 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217650442 217650443 + RNA INS - - T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr2:217650442_217650443insT ENST00000447289.1 + 0 510 gcccggcTCACTTTTTTTTTTT 0.436 6 2 --- --- --- --- LINC01322 103695433 broad.mit.edu 37 3 165373075 165373075 + RNA DEL C C - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr3:165373075delC ENST00000496693.1 + 0 939 gtgggtgcagcccacagaggg 0.552 7 5 --- --- --- --- CTC-347C20.1 0 broad.mit.edu 37 5 72013227 72013227 + RNA DEL T T - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr5:72013227delT ENST00000513767.3 - 0 51 agtgctaggattacaagcgtg 0.557 2 4 --- --- --- --- TMEM161B-AS1 100505894 broad.mit.edu 37 5 87693430 87693431 + RNA INS - - CACA rs10684503 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr5:87693430_87693431insCACA ENST00000501715.2 + 0 577 TMEM161B-AS1_ENST00000504922.1_RNA|TMEM161B-AS1_ENST00000508015.1_RNA|TMEM161B-AS1_ENST00000501869.2_RNA|TMEM161B-AS1_ENST00000510087.1_RNA AACCTCAGAGTcacacacacac 0.540 3 3 --- --- --- --- LOC102467212 102467212 broad.mit.edu 37 5 102871648 102871649 + RNA INS - - T TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr5:102871648_102871649insT ENST00000503367.1 - 0 221 tcttgcatcactttttttttct 0.416 2 4 --- --- --- --- HCP5 10866 broad.mit.edu 37 6 31387703 31387704 + RNA INS - - G rs76676841 by1000genomes TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr6:31387703_31387704insG ENST00000414046.2 + 0 62 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 tgggaatagcagggacatagtt 0.416 6 2 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157099982 157099984 + In_Frame_Del DEL GGC GGC - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr6:157099982_157099984delGGC ENST00000346085.5 + 1 920_922 c.919_921delGGC c.(919-921)del p.G319del ARID1B_ENST00000367148.1_In_Frame_Del_p.G319del|ARID1B_ENST00000350026.5_In_Frame_Del_p.G319del|ARID1B_ENST00000275248.4_In_Frame_Del_p.G261del NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 319 Gly-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GCCcggcgcgggcggcggcggcg 0.744 2 4 --- --- --- --- AC004895.4 0 broad.mit.edu 37 7 6129168 6129168 + RNA DEL T T - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr7:6129168delT ENST00000435547.1 + 0 523 TGACtttctcttttttttttt 0.478 3 3 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72086285 72086285 + RNA DEL T T - rs79660505 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr7:72086285delT ENST00000438125.1 - 0 1231 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity tcataaatGATTTTTTTTTCC 0.453 2 4 --- --- --- --- ARMC10 83787 broad.mit.edu 37 7 102733074 102733077 + Frame_Shift_Del DEL TTAC TTAC - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr7:102733074_102733077delTTAC ENST00000323716.3 + 5 1071_1074 c.679_682delTTAC c.(679-684)ttfs p.LL227fs ARMC10_ENST00000425331.1_Frame_Shift_Del_p.LL192fs|ARMC10_ENST00000541300.1_Intron|ARMC10_ENST00000454559.1_Intron|ARMC10_ENST00000441711.2_Frame_Shift_Del_p.LL192fs|ARMC10_ENST00000428183.2_Intron NM_031905.4 NP_114111.2 Q8N2F6 ARM10_HUMAN armadillo repeat containing 10 227 regulation of growth endoplasmic reticulum membrane|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 11 GTTCCAGGTGTTACTTACTGGAAA 0.422 8 76 --- --- --- --- AC009784.3 0 broad.mit.edu 37 7 135877327 135877328 + RNA DEL TG TG - rs28521774 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr7:135877327_135877328delTG ENST00000445293.2 + 0 392 tttttttttttggaaacagggt 0.520 3 3 --- --- --- --- OR2A1-AS1 101928492 broad.mit.edu 37 7 144051238 144051238 + RNA DEL A A - rs71206340 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr7:144051238delA ENST00000463561.1 - 0 192 RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000470435.1_RNA|RP4-798C17.6_ENST00000468575.1_RNA|RP4-798C17.6_ENST00000478925.1_RNA|RP4-798C17.6_ENST00000462305.1_RNA|RP4-798C17.6_ENST00000475089.1_RNA|RP4-798C17.6_ENST00000488041.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000486094.1_RNA|RP4-798C17.6_ENST00000496968.1_RNA CAAGACTAACAGAACACAACG 0.428 3 3 --- --- --- --- C7orf13 129790 broad.mit.edu 37 7 156294181 156294182 + RNA INS - - A TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr7:156294181_156294182insA ENST00000447933.1 - 0 300 aaatttgtaagaaaaaaaaaac 0.337 2 4 --- --- --- --- XPA 7507 broad.mit.edu 37 9 100455962 100455964 + In_Frame_Del DEL TTC TTC - rs3176652 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr9:100455962_100455964delTTC ENST00000375128.4 - 2 314_316 c.250_252delGAA c.(250-252)del p.E84del NM_000380.3 NP_000371.1 P23025 XPA_HUMAN xeroderma pigmentosum, complementation group A 84 Interaction with CEP164 and required for UV resistance.|Poly-Glu. nucleotide-excision repair, DNA damage removal nucleoplasm damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity p.E84*(1) breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1) 11 Acute lymphoblastic leukemia(62;0.158) CAATTTTCTGTTCTTCTTCTTCT 0.340 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 8 117 --- --- --- --- NFKB2 4791 broad.mit.edu 37 10 104159413 104159414 + Frame_Shift_Del DEL CG CG - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr10:104159413_104159414delCG ENST00000369966.3 + 14 1657_1658 c.1407_1408delCG c.(1405-1410)gacgfs p.DA469fs NFKB2_ENST00000189444.6_Frame_Shift_Del_p.DA469fs|NFKB2_ENST00000428099.1_Frame_Shift_Del_p.DA469fs|NFKB2_ENST00000336486.5_3'UTR NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 469 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) TCACCGCGGACGCGCGCGCGCT 0.728 T IGH@ B-NHL 2 4 --- --- --- --- RP11-51B23.3 0 broad.mit.edu 37 11 12561032 12561032 + RNA DEL C C - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr11:12561032delC ENST00000526112.1 - 0 57 TCCAGGTGCTCCAGGTAGATA 0.522 2 4 --- --- --- --- TEAD1 7003 broad.mit.edu 37 11 12923661 12923664 + Splice_Site DEL GTGA GTGA - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr11:12923661_12923664delGTGA ENST00000361905.4 + 10 1493 c.e10+1 TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000526600.1_Splice_Site|TEAD1_ENST00000527636.1_Splice_Site|TEAD1_ENST00000361985.2_Splice_Site NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) AAAATTCTGGGTGAGTAAGACATT 0.426 11 246 --- --- --- --- RP11-655M14.13 0 broad.mit.edu 37 11 67390013 67390013 + RNA DEL C C - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr11:67390013delC ENST00000533311.1 - 0 258 ggtcagcaagccatccccagt 0.468 2 4 --- --- --- --- LOC283177 283177 broad.mit.edu 37 11 134341898 134341899 + RNA INS - - GT rs74429476 by1000genomes TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr11:134341898_134341899insGT ENST00000528482.2 + 0 1554 CTACAGTCCCGGTCTCAGCGCC 0.569 2 4 --- --- --- --- RP11-167N24.4 0 broad.mit.edu 37 12 95787935 95787935 + RNA DEL T T - rs74780337 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr12:95787935delT ENST00000548194.1 - 0 150 cctggctttcttttttttttg 0.562 2 4 --- --- --- --- GOLGA2P5 55592 broad.mit.edu 37 12 100562920 100562921 + RNA INS - - T rs58822438 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr12:100562920_100562921insT ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 GGTCTCATTTGTTTTttttttt 0.406 3 3 --- --- --- --- IRF2BPL 64207 broad.mit.edu 37 14 77493762 77493767 + In_Frame_Del DEL TGCTGC TGCTGC - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr14:77493762_77493767delTGCTGC ENST00000238647.3 - 1 1267_1272 c.369_374delGCAGCA c.(367-375)caa>ca p.QQQ123del NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 123 Poly-Gln. nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 GAgctgttgttgctgctgctgctgct 0.714 3 4 --- --- --- --- AC124997.1 0 broad.mit.edu 37 15 25817645 25817645 + RNA DEL G G - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr15:25817645delG ENST00000422117.1 - 0 167 ctcacattatggggggtaatc 0.468 2 4 --- --- --- --- DPH6-AS1 100507466 broad.mit.edu 37 15 35962931 35962932 + RNA DEL TG TG - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr15:35962931_35962932delTG ENST00000501169.2 + 0 279 NR_038251.1 tgcatgtgtatgtgtgtgtgtg 0.485 2 4 --- --- --- --- PKD1 5310 broad.mit.edu 37 16 2139941 2139942 + Frame_Shift_Del DEL TG TG - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr16:2139941_2139942delTG ENST00000262304.4 - 46 12906_12907 c.12698_12699delCA c.(12697-12699)afs p.T4233fs PKD1_ENST00000423118.1_Frame_Shift_Del_p.T4232fs NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 4233 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AGACGTCCTCTGTGGCCTGGTT 0.698 8 27 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5856367 5856367 + RNA DEL A A - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr16:5856367delA ENST00000569895.1 + 0 403 ggatggggccaaaaagggtaa 0.527 2 4 --- --- --- --- CTD-3037G24.3 0 broad.mit.edu 37 16 12681783 12681784 + RNA DEL GG GG - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr16:12681783_12681784delGG ENST00000564505.1 - 0 307 CCTTTTTTCTGGGGGGTGATAG 0.480 2 4 --- --- --- --- RP11-481J2.2 0 broad.mit.edu 37 16 58460866 58460866 + RNA DEL A A - rs35224150 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr16:58460866delA ENST00000567448.1 + 0 25 accgtttctcaaaaaaaaaaa 0.478 3 3 --- --- --- --- CCDC144NL-AS1 440416 broad.mit.edu 37 17 20871340 20871341 + RNA DEL TG TG - rs79118323 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr17:20871340_20871341delTG ENST00000582583.1 + 0 799 RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-381P6.1_ENST00000581673.1_RNA|RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA AGCACTGTACtgtgtgtgtgtg 0.426 2 4 --- --- --- --- GIT1 28964 broad.mit.edu 37 17 27902455 27902456 + Frame_Shift_Del DEL TT TT - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr17:27902455_27902456delTT ENST00000225394.3 - 18 2107_2108 c.1859_1860delAA c.(1858-1860)afs p.K620fs GIT1_ENST00000579937.1_Frame_Shift_Del_p.K620fs|GIT1_ENST00000581348.1_Frame_Shift_Del_p.K606fs|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Frame_Shift_Del_p.K629fs NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 620 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) AGTCTTCCTCTTTGCCCAGCTC 0.530 8 201 --- --- --- --- AC004231.2 0 broad.mit.edu 37 17 39130974 39130975 + RNA INS - - TC TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr17:39130974_39130975insTC ENST00000418393.1 + 0 385 ctttctttctttctctctctct 0.436 2 4 --- --- --- --- RP11-527L4.5 0 broad.mit.edu 37 17 41993487 41993487 + RNA DEL G G - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr17:41993487delG ENST00000585329.1 - 0 387 RP11-527L4.5_ENST00000591374.1_RNA AAAAACTTGAGGCCTGCAGCC 0.552 2 4 --- --- --- --- LOC101927274 101927274 broad.mit.edu 37 17 49405144 49405144 + RNA DEL T T - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr17:49405144delT ENST00000514726.1 - 0 1356 ctgaaaaccatggcacaagaa 0.368 2 4 --- --- --- --- MIR3976HG 645355 broad.mit.edu 37 18 5787083 5787083 + RNA DEL A A - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr18:5787083delA ENST00000566533.1 + 0 426 NR_038839.1 actccgtctcaaaaaaaaaaa 0.448 2 4 --- --- --- --- PSMG2 56984 broad.mit.edu 37 18 12659358 12659358 + RNA DEL A A - TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr18:12659358delA ENST00000585331.1 + 0 64 CAACAGGACGAAAAGGAAAAT 0.458 2 4 --- --- --- --- AC011523.2 0 broad.mit.edu 37 19 51342854 51342866 + RNA DEL GTCCTGGACTCCT GTCCTGGACTCCT - rs75420316 by1000genomes TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr19:51342854_51342866delGTCCTGGACTCCT ENST00000598079.1 + 0 213 aggggctggggtcctggactcctgggtctgaag 0.648 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11030943 11030944 + RNA DEL TA TA - rs59950800 by1000genomes TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr21:11030943_11030944delTA ENST00000470054.1 - 0 1476 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) agcaaacacttaattttttccc 0.411 3 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11032070 11032071 + RNA INS - - T rs7277399 by1000genomes TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr21:11032070_11032071insT ENST00000470054.1 - 0 1476 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ttctttctttctttattttttg 0.455 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11037608 11037609 + RNA INS - - GA rs56247503 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr21:11037608_11037609insGA ENST00000470054.1 - 0 1476 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TAACTGTCAAGGAAAATACTTA 0.332 3 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11059172 11059175 + RNA DEL CTAT CTAT - rs56885467 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr21:11059172_11059175delCTAT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGGGAAATGACTATCTAACATAAA 0.373 5 10 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11063807 11063807 + RNA DEL A A - rs150234027 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr21:11063807delA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tattcagaggaaaaaaatata 0.284 3 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11063836 11063836 + RNA DEL T T - rs139029133 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr21:11063836delT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catgcaaaactgtaagactaa 0.294 3 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11073982 11073982 + RNA DEL T T - rs58848388 TCGA-EB-A6L9-06A-11D-A32N-08 TCGA-EB-A6L9-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2998c05-73d7-499e-8679-8b48b9f4dc83 4f9351b9-b3ff-403a-a2bb-8e5689738b99 g.chr21:11073982delT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aaataactgcttttttcatgg 0.274 4 8 --- --- --- ---