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 LNX1 84708 broad.mit.edu 37 4 54362297 54362297 + Missense_Mutation SNP C C T rs139696663 byFrequency TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr4:54362297C>T ENST00000306888.2 - 5 1206 c.955G>A c.(955-957)Ggt>Agt p.G319S LNX1_ENST00000263925.7_Missense_Mutation_p.G415S|FIP1L1_ENST00000507166.1_Intron NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 415 PDZ 1. cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) TATGCCACACCGCCATCCAGC 0.502000 4 176 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29989217 29989217 + Missense_Mutation SNP G G A TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr16:29989217G>A ENST00000308893.4 + 2 1167 c.124G>A c.(124-126)Gta>Ata p.V42I TAOK2_ENST00000279394.3_Missense_Mutation_p.V42I|TAOK2_ENST00000543033.1_Missense_Mutation_p.V42I NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 42 Protein kinase. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CTTTGGAGCCGTATACTTTGT 0.532000 4 160 0 0 1 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 8742 8742 + Silent SNP A A G TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chrM:8742A>G ENST00000361899.2 + 1 216 c.216A>G c.(214-216)ctA>ctG p.L72L mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 TCTCTTATACTAGTATCCTTA 0.408000 5 131 0 0 1 0 0 FAM102A 399665 broad.mit.edu 37 9 130712784 130712784 + Missense_Mutation SNP G G A TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr9:130712784G>A ENST00000373095.1 - 4 707 c.332C>T c.(331-333)gCg>gTg p.A111V FAM102A_ENST00000373084.4_5'UTR|FAM102A_ENST00000300434.3_5'UTR NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A 111 breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 GCCCGAGCCCGCAAACTCGGC 0.632000 4 127 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459909 66459909 + RNA SNP T T C rs146531631 by1000genomes TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr9:66459909T>C ENST00000424345.1 + 0 169 cattaaaatcttgggcatgca 0.368000 3 20 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65678327 65678327 + Missense_Mutation SNP C C A TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr15:65678327C>A ENST00000352385.2 - 18 3231 c.3022G>T c.(3022-3024)Ggc>Tgc p.G1008C NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1008 integral to membrane|plasma membrane p.G1008C(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CTGGGGGGGCCAAGCCGAGCT 0.662000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 16 1.024e-07 1.06667e-07 1 1 0 LRRC7 57554 broad.mit.edu 37 1 70488952 70488952 + Silent SNP G G A TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr1:70488952G>A ENST00000310961.5 + 18 2008 c.1590G>A c.(1588-1590)caG>caA p.Q530Q LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Silent_p.Q525Q Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 525 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ATGACCCACAGCTGGCATGGG 0.547000 5 117 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66458345 66458345 + RNA SNP G G A rs2321645 by1000genomes TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr9:66458345G>A ENST00000424345.1 + 0 67 CCCCGGGGCCGCGGGTCTCGG 0.751000 3 5 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28194930 28194930 + Silent SNP C C T TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr22:28194930C>T ENST00000302326.4 - 1 2556 c.1602G>A c.(1600-1602)caG>caA p.Q534Q NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 534 Poly-Gln. binding p.Q550_R551insQ(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 gctgctgctgctgttgctgct 0.647000 T ETV6 """AML, meningioma""" 3 13 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 88 0 0 1 0 0 FAM57A 79850 broad.mit.edu 37 17 641146 641146 + Silent SNP C C T TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr17:641146C>T ENST00000308278.8 + 3 503 c.267C>T c.(265-267)taC>taT p.Y89Y FAM57A_ENST00000301324.8_Silent_p.Y89Y|FAM57A_ENST00000572018.1_Intron NM_024792.1 NP_079068.1 Q8TBR7 FA57A_HUMAN family with sequence similarity 57, member A 89 TLC. integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0217) ATGACTCGTACGCCATGTACC 0.502000 6 278 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153130847 153130847 + Missense_Mutation SNP G G A TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chrX:153130847G>A ENST00000370060.1 - 21 2845 c.2656C>T c.(2656-2658)Cgg>Tgg p.R886W L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 886 Fibronectin type-III 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane p.R886W(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTATAGGGCCGCAAGCCACTG 0.612000 4 228 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9609296 9609296 + Missense_Mutation SNP G G A TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr8:9609296G>A ENST00000310430.6 + 19 3036 c.3010G>A c.(3010-3012)Gta>Ata p.V1004I TNKS_ENST00000518281.1_Missense_Mutation_p.V767I NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 1004 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) AGAGTTGGCCGTAGGAGGAGC 0.542000 5 196 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17021586 17021586 + RNA DEL A A - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr1:17021586delA ENST00000492551.1 - 0 1938 NR_026567.1 gcccacgtataaggtggccgg 0.602 2 4 --- --- --- --- LINC01057 101928079 broad.mit.edu 37 1 95170388 95170389 + RNA DEL AG AG - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr1:95170388_95170389delAG ENST00000452922.1 - 0 625 agagagagaaagagagagagag 0.401 2 4 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12478631 12478631 + RNA DEL T T - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr2:12478631delT ENST00000412294.1 + 0 412 TTGCTGATCATTTCCCAGGCC 0.458 2 4 --- --- --- --- AC008074.4 0 broad.mit.edu 37 2 64725200 64725200 + RNA DEL T T - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr2:64725200delT ENST00000436433.1 + 0 186 cggccttttcttttttttcag 0.507 2 4 --- --- --- --- LOC101927958 101927958 broad.mit.edu 37 2 239140439 239140439 + RNA DEL A A - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr2:239140439delA ENST00000456601.1 + 0 115 acaaacaaacaaaaaaacaCT 0.557 2 4 --- --- --- --- ADAMTS9-AS2 100507098 broad.mit.edu 37 3 64830177 64830177 + RNA DEL T T - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr3:64830177delT ENST00000474768.1 + 0 573 ADAMTS9-AS2_ENST00000481312.1_RNA accagctaaatttttttttgt 0.512 2 4 --- --- --- --- AC128709.2 0 broad.mit.edu 37 3 197186692 197186692 + RNA DEL G G - rs66973703 TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr3:197186692delG ENST00000420213.1 + 0 138 gcggtcgggaggggatgcggt 0.612 3 6 --- --- --- --- RP11-802H3.2 0 broad.mit.edu 37 4 33436691 33436691 + RNA DEL T T - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr4:33436691delT ENST00000515263.1 + 0 55 TTTGGTTCTGttttttttttt 0.378 3 3 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190797542 190797542 + RNA DEL C C - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr4:190797542delC ENST00000511785.1 - 0 231 AGATTCATTTCTTTTCTACTA 0.294 2 4 --- --- --- --- CTC-340D7.1 0 broad.mit.edu 37 5 68132571 68132571 + RNA DEL T T - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr5:68132571delT ENST00000503268.1 - 0 377 p.0?(1) ctcctgctccttctccttcac 0.468 2 4 --- --- --- --- SLC27A6 28965 broad.mit.edu 37 5 128070139 128070139 + RNA DEL A A - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr5:128070139delA ENST00000514867.1 + 0 69 cctccaacttaaaaaggactg 0.463 2 4 --- --- --- --- LOC100996634 100996634 broad.mit.edu 37 6 109591512 109591512 + Frame_Shift_Del DEL T T - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr6:109591512delT ENST00000606661.1 + 10 1717 c.1717delT c.(1717-1719)ttfs p.F573fs C6orf183_ENST00000453496.2_RNA NM_001277339.1 NP_001264268.1 ctactttctctttcctatctc 0.413 2 4 --- --- --- --- RAET1E-AS1 100652739 broad.mit.edu 37 6 150203788 150203788 + RNA DEL A A - rs112489332 TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr6:150203788delA ENST00000606915.1 + 0 889 NR_045126.1 ccatatctataaaaaaaatct 0.507 2 4 --- --- --- --- OSTCP1 202459 broad.mit.edu 37 6 159262511 159262512 + RNA INS - - A TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr6:159262511_159262512insA ENST00000522287.1 - 0 831_832 NR_028496.1 GTCAGCAGGGGAAAAAAAAATA 0.332 3 5 --- --- --- --- CTD-2281E23.3 0 broad.mit.edu 37 8 1197216 1197217 + RNA INS - - G rs66848317 by1000genomes TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr8:1197216_1197217insG ENST00000517950.1 - 0 278 GAGATCAGTGTGGAGTGATGGT 0.584 3 4 --- --- --- --- KB-1043D8.6 0 broad.mit.edu 37 8 97248999 97249000 + RNA INS - - T rs72180922 by1000genomes TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr8:97248999_97249000insT ENST00000520575.1 + 0 135 AAGGTTTTGGGttttttttgtt 0.441 5 2 --- --- --- --- NAMA 100996569 broad.mit.edu 37 9 102121895 102121896 + RNA INS - - C TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr9:102121895_102121896insC ENST00000604258.1 - 0 1815 NR_102270.1 AAAGGACAGTGCCCCGGGAGCC 0.594 2 4 --- --- --- --- CALML3-AS1 100132159 broad.mit.edu 37 10 5561481 5561482 + RNA INS - - T rs113181166 TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr10:5561481_5561482insT ENST00000543008.1 - 0 1262 CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA atgaatgtgtgttttttttttg 0.426 2 4 --- --- --- --- LINC00842 643650 broad.mit.edu 37 10 47109102 47109102 + RNA DEL C C - rs11318568 TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr10:47109102delC ENST00000422732.2 - 0 435 NR_033957.1 CTCCTGGGCACCTCACTCACC 0.577 5 4 --- --- --- --- RP11-170M17.1 0 broad.mit.edu 37 10 65625829 65625830 + RNA INS - - A rs5785603 by1000genomes TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr10:65625829_65625830insA ENST00000444770.1 + 0 494 CGGGAAGACTGAAAAAGATGTT 0.490 OREG0020209 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- RP11-428C19.4 0 broad.mit.edu 37 11 19300239 19300239 + RNA DEL G G - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr11:19300239delG ENST00000527978.1 + 0 339 ACAGGGATctggggctggggc 0.552 2 4 --- --- --- --- RP11-631N16.2 0 broad.mit.edu 37 12 63000608 63000609 + RNA INS - - C rs11174559 by1000genomes TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr12:63000608_63000609insC ENST00000550290.1 + 0 84 aaaaaaaaaaaaTCAATGTGAG 0.515 2 4 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131962092 131962093 + RNA INS - - ATA TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr12:131962092_131962093insATA ENST00000535133.1 - 0 195 tggtaatggtggtggtgatggt 0.361 2 4 --- --- --- --- RP11-266E6.3 0 broad.mit.edu 37 13 35222536 35222537 + RNA INS - - ACTG rs35142872 by1000genomes TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr13:35222536_35222537insACTG ENST00000606365.1 - 0 183 tcaagttggtaactatgtctac 0.366 3 3 --- --- --- --- RNF219-AS1 100874222 broad.mit.edu 37 13 78815355 78815356 + RNA INS - - CA TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr13:78815355_78815356insCA ENST00000607862.1 + 0 230 RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606187.1_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000606429.1_RNA acatacacacgcacacacacac 0.342 2 4 --- --- --- --- HERC2P3 283755 broad.mit.edu 37 15 20631337 20631337 + RNA DEL C C - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr15:20631337delC ENST00000428453.1 - 0 4041 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ttgtaagatacctgctgagag 0.348 2 4 --- --- --- --- GOLGA6L2 283685 broad.mit.edu 37 15 23686010 23686011 + In_Frame_Ins INS - - CTC TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr15:23686010_23686011insCTC ENST00000567107.1 - 8 1663_1664 c.1611_1612insGAG c.(1609-1614)gaagat>gaGAGagat p.537_538ED>ERD GOLGA6L2_ENST00000345070.5_In_Frame_Ins_p.264_265ED>ERD|GOLGA6L2_ENST00000312015.5_In_Frame_Ins_p.537_538ED>ERD golgin A6 family-like 2 breast(1)|endometrium(7) 8 tcccgcatcttctcctgccgcc 0.579 3 4 --- --- --- --- RBFOX1 54715 broad.mit.edu 37 16 6069097 6069098 + RNA DEL CA CA - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr16:6069097_6069098delCA ENST00000569895.1 + 0 436 gacacacacgcacacacacaca 0.530 2 4 --- --- --- --- RN7SL245P 0 broad.mit.edu 37 16 22647903 22647904 + RNA INS - - T TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr16:22647903_22647904insT ENST00000583924.1 - 0 161_162 AAAATGTTGTGtttttttttct 0.470 2 4 --- --- --- --- LINC01568 100506172 broad.mit.edu 37 16 73433858 73433858 + RNA DEL A A - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr16:73433858delA ENST00000554640.1 + 0 202 CTGCATGCACAGTAACAGACG 0.458 2 4 --- --- --- --- AC009120.6 0 broad.mit.edu 37 16 74353533 74353533 + RNA DEL T T - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr16:74353533delT ENST00000565313.1 - 0 47 AC009120.6_ENST00000561921.1_RNA tttcttcttcttttttttttt 0.493 2 4 --- --- --- --- RPH3AL 9501 broad.mit.edu 37 17 203333 203333 + RNA DEL A A - rs11356209 TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr17:203333delA ENST00000572499.1 + 0 225 CCAAGGAGCCAGGGGTGTGGA 0.552 2 4 --- --- --- --- FLJ36000 284124 broad.mit.edu 37 17 21911706 21911708 + RNA DEL CTC CTC - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr17:21911706_21911708delCTC ENST00000581223.2 + 0 2431_2433 NR_027084.1 CACAGCTCTTCTCTGAGAACGAA 0.463 4 4 --- --- --- --- RP11-640N20.8 0 broad.mit.edu 37 17 30419042 30419044 + RNA DEL CCA CCA - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr17:30419042_30419044delCCA ENST00000581225.1 - 0 72 RP11-640N20.6_ENST00000358484.4_RNA CCATCCCTCTCCACCACCACCAC 0.488 2 4 --- --- --- --- LINC00669 647946 broad.mit.edu 37 18 36848204 36848205 + RNA INS - - CA rs34989487 by1000genomes TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr18:36848204_36848205insCA ENST00000591629.1 - 0 440 NR_024391.1 ATACACACACGCACACACACAC 0.297 2 4 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9038087 9038087 + Frame_Shift_Del DEL G G - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr19:9038087delG ENST00000397910.4 - 8 36392 c.36189delC c.(36187-36189)ccfs p.P12063fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12065 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGTGGAGCTGGGGATGGAGG 0.493 2 4 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50155567 50155569 + In_Frame_Del DEL AAG AAG - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr19:50155567_50155569delAAG ENST00000360565.3 + 7 2045_2047 c.1921_1923delAAG c.(1921-1923)del p.K645del NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 645 Arg-rich.|Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TGGCGGCAGCAAGAAGAAGAAGA 0.744 2 4 --- --- --- --- RP5-1121H13.4 0 broad.mit.edu 37 20 40658674 40658675 + RNA INS - - A TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr20:40658674_40658675insA ENST00000431589.1 + 0 131 ggagctcttccaacagaaactt 0.480 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11045983 11045983 + RNA DEL A A - rs57224481 TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr21:11045983delA ENST00000470054.1 - 0 774 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) TTCAAGTATCAAAACATTTAT 0.244 6 0 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11069158 11069158 + RNA DEL T T - rs57408407 TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr21:11069158delT 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) gaataatatattaaaaaaaac 0.284 6 9 --- --- --- --- LINC00112 54089 broad.mit.edu 37 21 43136672 43136672 + RNA DEL C C - TCGA-EB-A5VV-06A-11D-A32N-08 TCGA-EB-A5VV-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd1406e4-1221-43fe-b563-8a76b38d3f3b 8f0cfd03-2700-49af-87f5-8f4eb2f777c9 g.chr21:43136672delC ENST00000432830.1 + 0 77 NR_024028.2 CACAATCACTCCACCTCCCCA 0.552 2 4 --- --- --- ---