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 GABRA6 2559 broad.mit.edu 37 5 161116048 161116048 + Missense_Mutation SNP A A T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr5:161116048A>T ENST00000523217.1 + 4 531 c.289A>T c.(289-291)Atg>Ttg p.M97L GABRA6_ENST00000274545.5_Missense_Mutation_p.M107L|RP11-348M17.2_ENST00000521984.1_RNA NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 107 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GAATAATTTGATGGTCAGTAA 0.413000 TCGA Ovarian(5;0.080) 4 102 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46607403 46607403 + Missense_Mutation SNP C C T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr2:46607403C>T ENST00000263734.3 + 12 2102 c.1592C>T c.(1591-1593)cCc>cTc p.P531L NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 531 NTAD. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) ACACTGGCACCCTATATCCCC 0.592000 42 76 0 0 1 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6380190 6380190 + Missense_Mutation SNP T T C TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr4:6380190T>C ENST00000335585.5 - 3 301 c.278A>G c.(277-279)aAc>aGc p.N93S PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.N76S|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.N86S|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.N93S|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.N86S NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 93 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 CTTGATCTTGTTGATCTTCTC 0.602000 4 59 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr2:97869931A>T ENST00000420699.2 + 50 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 4 31 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420458 11420458 + RNA SNP C C T rs28435564 TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr12:11420458C>T ENST00000381842.3 - 0 642 PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) CTTTCCTGGACGAGGTGGGGG 0.612000 5 10 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51771115 51771115 + Missense_Mutation SNP C C A TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr6:51771115C>A ENST00000371117.3 - 41 6981 c.6706G>T c.(6706-6708)Gtg>Ttg p.V2236L PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2236 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GAGTTCCTCACTGTGCAGCCC 0.438000 3 59 0.115264 0.115264 1 1 0 NLRP8 126205 broad.mit.edu 37 19 56466123 56466123 + Silent SNP C C T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr19:56466123C>T ENST00000291971.3 + 3 770 c.699C>T c.(697-699)taC>taT p.Y233Y NLRP8_ENST00000590542.1_Silent_p.Y233Y NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 233 NACHT. cytoplasm ATP binding p.Y233Y(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) ACAAGTTCTACGCCCACAAGC 0.527000 13 65 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318660 21318660 + Silent SNP C C T rs148939916 byFrequency TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr17:21318660C>T ENST00000583088.1 + 3 901 c.6C>T c.(4-6)acC>acT p.T2T KCNJ12_ENST00000331718.5_Silent_p.T2T NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CCGGGATGACCGCGGCCAGCC 0.697000 Prostate(3;0.18) 4 26 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36579971 36579971 + Silent SNP G G T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr19:36579971G>T ENST00000401500.2 + 14 1835 c.1800G>T c.(1798-1800)ggG>ggT p.G600G WDR62_ENST00000270301.7_Silent_p.G600G NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 600 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCAGCTGTGGGGCTGACAAGA 0.627000 6 10 0.00116845 0.00121925 1 1 0 PAPSS1 9061 broad.mit.edu 37 4 108535505 108535505 + Missense_Mutation SNP C C T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr4:108535505C>T ENST00000265174.4 - 12 2047 c.1775G>A c.(1774-1776)cGc>cAc p.R592H NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 592 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) AGCAAGTTTGCGCATTCGTGT 0.383000 3 71 0 0 1 0 0 CD200R1L 344807 broad.mit.edu 37 3 112546338 112546338 + Silent SNP A A G TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr3:112546338A>G ENST00000488794.1 - 5 832 c.243T>C c.(241-243)tcT>tcC p.S81S CD200R1L_ENST00000398214.1_Silent_p.S102S|CD200R1L_ENST00000448932.1_Silent_p.S81S Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 102 Ig-like V-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 GATCAGGTCTAGAGACCCAGG 0.468000 4 126 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 6 93 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226570832 226570832 + Missense_Mutation SNP C C T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr1:226570832C>T ENST00000366794.5 - 8 1207 c.1064G>A c.(1063-1065)cGt>cAt p.R355H NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 355 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GGGGAATATACGGTCCTGTTT 0.498000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 4 266 0 0 1 0 0 CD200R1L 344807 broad.mit.edu 37 3 112546360 112546360 + Missense_Mutation SNP A A T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr3:112546360A>T ENST00000488794.1 - 5 810 c.221T>A c.(220-222)gTt>gAt p.V74D CD200R1L_ENST00000398214.1_Missense_Mutation_p.V95D|CD200R1L_ENST00000448932.1_Missense_Mutation_p.V74D Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 95 Ig-like V-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 TATTCTCTCAACAGTACAGTT 0.448000 4 121 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35035400 35035400 + Missense_Mutation SNP C C T TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr5:35035400C>T ENST00000231420.6 - 5 708 c.508G>A c.(508-510)Ggc>Agc p.G170S NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 170 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) GCTTCTGAGCCACTGTTCACC 0.433000 29 56 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122662677 122662677 + Missense_Mutation SNP C C G TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr10:122662677C>G ENST00000263461.6 + 23 3110 c.2864C>G c.(2863-2865)cCt>cGt p.P955R WDR11_ENST00000604509.1_3'UTR NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 955 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 GAAGCTGCTCCTCGAGACAAA 0.498000 13 35 0 0 1 0 0 MTMR10 54893 broad.mit.edu 37 15 31251152 31251152 + Silent SNP G G C TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr15:31251152G>C ENST00000435680.1 - 9 946 c.849C>G c.(847-849)ctC>ctG p.L283L MTMR10_ENST00000314404.8_Silent_p.L35L|MTMR10_ENST00000563714.1_Silent_p.L201L|MTMR10_ENST00000425768.1_3'UTR NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 283 Myotubularin phosphatase. phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) TCCAGCACCAGAGCTAGGGGA 0.478000 29 57 0 0 1 0 0 ZXDC 79364 broad.mit.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr3:126178522delT ENST00000389709.3 - 7 2239 c.2186delA c.(2185-2187)agfs p.K729fs NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 729 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) TCCTCTCTGCTTTTTTTCCTT 0.522 7 356 --- --- --- --- TRGC1 6966 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 7 142 --- --- --- --- STAG3L2 442582 broad.mit.edu 37 7 74300804 74300804 + RNA DEL A A - TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr7:74300804delA ENST00000423186.1 - 0 499 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CTTCATACTTAAAAAAAAAAA 0.458 3 5 --- --- --- --- LINC01609 101927487 broad.mit.edu 37 8 112239267 112239267 + RNA DEL A A - TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr8:112239267delA ENST00000522778.1 - 0 122 AAGCCTAATGAATATTGTCCG 0.398 2 4 --- --- --- --- MEDAG 84935 broad.mit.edu 37 13 31480851 31480852 + Frame_Shift_Ins INS - - G TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr13:31480851_31480852insG ENST00000380482.4 + 1 524_525 c.199_200insG c.(199-201)gggfs p.G67fs TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590344.1_RNA NM_032849.3 NP_116238.2 mesenteric estrogen-dependent adipogenesis ggcggcggcgcgggggggcTTC 0.738 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- --- COL18A1 80781 broad.mit.edu 37 21 46906873 46906874 + Frame_Shift_Ins INS - - G TCGA-QT-A7U0-01A-11D-A35D-08 TCGA-QT-A7U0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7599c42d-e42b-4a22-bf08-ed78437a1652 f19ac3ac-2b5b-474c-8259-dd93c42aef05 g.chr21:46906873_46906874insG ENST00000359759.4 + 15 3066_3067 c.3045_3046insG c.(3043-3048)ccggccfs p.A1016fs COL18A1_ENST00000400337.2_Frame_Shift_Ins_p.A601fs|COL18A1_ENST00000355480.5_Frame_Shift_Ins_p.A781fs P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1016 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) CTGGGCCCCCTGGGCCCCCAGG 0.728 2 4 --- --- --- ---