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 SSTR3 0 broad.mit.edu 37 22 37602836 37602836 + Missense_Mutation SNP C C T rs143937169 TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr22:37602836C>T ENST00000328544.3 - 2 1540 c.1007G>A c.(1006-1008)cGc>cAc p.R336H SSTR3_ENST00000402501.1_Missense_Mutation_p.R336H NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 336 R -> C (in dbSNP:rs4988469). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 CTCCTGGCTGCGCACACGGCG 0.657000 34 68 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38820472 38820472 + Silent SNP G G A rs61757626 TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr6:38820472G>A ENST00000359357.3 + 38 5072 c.4818G>A c.(4816-4818)ccG>ccA p.P1606P DNAH8_ENST00000449981.2_Silent_p.P1823P|DNAH8_ENST00000441566.1_Silent_p.P1606P dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCTTACAGCCGCATCTCCCTG 0.393000 3 44 0 0 1 0 0 NR1I3 0 broad.mit.edu 37 1 161206260 161206260 + Missense_Mutation SNP C C G TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr1:161206260C>G ENST00000367983.4 - 2 390 c.96G>C c.(94-96)aaG>aaC p.K32N NR1I3_ENST00000511944.1_Missense_Mutation_p.K32N|NR1I3_ENST00000515452.1_Missense_Mutation_p.K32N|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000428574.2_Missense_Mutation_p.K32N|NR1I3_ENST00000505005.1_Missense_Mutation_p.K32N|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367982.4_Missense_Mutation_p.K32N|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.K32N|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000367980.2_Missense_Mutation_p.K32N|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000502985.1_Missense_Mutation_p.K32N|NR1I3_ENST00000367985.3_Missense_Mutation_p.K32N|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000367984.4_Missense_Mutation_p.K32N|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000442691.2_Missense_Mutation_p.K32N Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 32 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGAAGAAACCCTTGCAGCCCT 0.537000 40 53 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 147 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54186159 54186159 + Nonsense_Mutation SNP G G T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr6:54186159G>T ENST00000259782.4 + 3 580 c.484G>T c.(484-486)Gaa>Taa p.E162* TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Nonsense_Mutation_p.E158*|TINAG_ENST00000370864.3_Nonsense_Mutation_p.E144* NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 162 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) AGAATTAATTGAACAGGTCAA 0.398000 3 32 0.00909568 0.00938909 1 1 0 SPEG 10290 broad.mit.edu 37 2 220329189 220329189 + Missense_Mutation SNP C C T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr2:220329189C>T ENST00000312358.7 + 9 2872 c.2740C>T c.(2740-2742)Cgg>Tgg p.R914W SPEG_ENST00000396689.2_Missense_Mutation_p.R65W|SPEG_ENST00000396686.1_Missense_Mutation_p.R65W|SPEG_ENST00000396695.2_Missense_Mutation_p.R122W|SPEG_ENST00000396698.1_Missense_Mutation_p.R810W|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396688.1_Missense_Mutation_p.R65W NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 914 Ig-like 3. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCAGACCAGCGGCGCTTTGC 0.652000 30 73 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88768854 88768854 + RNA SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr10:88768854G>A ENST00000444431.1 + 0 3454 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding TCCGTCACTGGCCAAACGTGC 0.507000 5 194 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414144 105414144 + Silent SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr14:105414144G>A ENST00000333244.5 - 7 7763 c.7644C>T c.(7642-7644)gaC>gaT p.D2548D AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2548 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGAGTTTCACGTCCACTTGGC 0.637000 5 310 0 0 1 0 0 PAQR8 85315 broad.mit.edu 37 6 52268632 52268632 + Silent SNP C C T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr6:52268632C>T ENST00000442253.2 + 2 795 c.621C>T c.(619-621)gtC>gtT p.V207V PAQR8_ENST00000360726.3_Silent_p.V207V NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 207 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding p.V207V(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) CTTATCCAGTCATGAGGAAGA 0.547000 5 83 0 0 1 0 0 C1orf51 148523 broad.mit.edu 37 1 150255959 150255959 + Silent SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr1:150255959G>A ENST00000290363.5 + 1 731 c.282G>A c.(280-282)gcG>gcA p.A94A C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Silent_p.A6A|C1orf51_ENST00000369095.1_Silent_p.A94A NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 94 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GATCTGGGGCGAAAAGATCAA 0.527000 4 173 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64491035 64491035 + Missense_Mutation SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr12:64491035G>A ENST00000355086.3 + 15 2217 c.1693G>A c.(1693-1695)Gct>Act p.A565T RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.A542T|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A502T NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 565 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) AAATCCTTTGGCTGATGACCA 0.353000 6 38 0 0 1 0 0 WBP11P1 0 broad.mit.edu 37 18 30093139 30093139 + RNA SNP C C T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr18:30093139C>T ENST00000567636.1 + 0 1514 NR_003558.1 CCACGACCACCGACTTTTACT 0.607000 5 5 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138714198 138714198 + Missense_Mutation SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr9:138714198G>A ENST00000389532.4 - 11 2373 c.2309C>T c.(2308-2310)tCg>tTg p.S770L CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S781L|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S492L NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 770 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CAGTTTGGCCGACTCTTCCTC 0.557000 4 153 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954349 30954349 + Missense_Mutation SNP A A G TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr6:30954349A>G ENST00000376296.3 + 2 638 c.397A>G c.(397-399)Agc>Ggc p.S133G MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 133 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 CAGTGGGGCCAGCACAGCCAC 0.612000 5 338 0 0 1 0 0 SGOL1 151648 broad.mit.edu 37 3 20215804 20215804 + Silent SNP T T G TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr3:20215804T>G ENST00000412997.1 - 6 1570 c.1219A>C c.(1219-1221)Aga>Cga p.R407R SGOL1_ENST00000419233.2_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000421451.1_Silent_p.R407R|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000412868.1_Silent_p.R407R|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000263753.4_Silent_p.R407R|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 407 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 TTCAGTGCTCTTTTAGCTAGA 0.413000 7 94 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133814172 133814172 + Silent SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr11:133814172G>A ENST00000321016.8 - 3 582 c.352C>T c.(352-354)Ctg>Ttg p.L118L IGSF9B_ENST00000533871.2_Silent_p.L118L Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 118 Ig-like 1. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TGCTGGTCCAGCATGAGCACT 0.577000 3 33 0 0 1 0 0 EIF5A2 56648 broad.mit.edu 37 3 170624851 170624851 + Missense_Mutation SNP C C T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr3:170624851C>T ENST00000295822.2 - 3 382 c.197G>A c.(196-198)gGc>gAc p.G66D EIF5A2_ENST00000474096.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000487522.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000460117.1_Intron NM_020390.5 NP_065123.1 Q9GZV4 IF5A2_HUMAN eukaryotic translation initiation factor 5A2 66 mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport cytosol|endoplasmic reticulum membrane|nuclear pore protein binding|ribosome binding|translation elongation factor activity large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15) ATATTTTTTGCCCGTGAAAAT 0.343000 3 29 0 0 1 0 0 PTX4 390667 broad.mit.edu 37 16 1537738 1537738 + Silent SNP C C T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr16:1537738C>T ENST00000447419.2 - 2 400 c.375G>A c.(373-375)ttG>ttA p.L125L PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.L120L Q96A99 PTX4_HUMAN pentraxin 4, long 125 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GGGTGAGGTCCAAGGCCCGCA 0.701000 33 49 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15207265 15207265 + Silent SNP G G A rs1047882 TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr17:15207265G>A ENST00000395930.1 - 9 1647 c.1461C>T c.(1459-1461)gtC>gtT p.V487V TEKT3_ENST00000462175.1_5'UTR|TEKT3_ENST00000338696.2_Silent_p.V487V NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 487 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) AGCAGAAGCCGACCAGCCGGA 0.527000 28 46 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103701637 103701637 + Splice_Site SNP A A G TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr13:103701637A>G ENST00000245312.3 - 5 1516 c.e5+1 NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATGATTCCTTACATCCTAAGA 0.423000 4 96 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106500261 106500261 + Missense_Mutation SNP G G C TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr12:106500261G>C ENST00000261402.2 - 2 1662 c.283C>G c.(283-285)Caa>Gaa p.Q95E NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 95 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 ACCATGTCTTGTTCATCCTTA 0.338000 3 42 0 0 1 0 0 FKBP10 60681 broad.mit.edu 37 17 39974421 39974421 + Missense_Mutation SNP G G T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr17:39974421G>T ENST00000321562.4 + 3 576 c.472G>T c.(472-474)Gtg>Ttg p.V158L NM_021939.3 NP_068758.3 Q96AY3 FKB10_HUMAN FK506 binding protein 10, 65 kDa 158 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) CACCGTGCAGGTGAGCACATT 0.622000 27 28 2.44723e-14 2.56759e-14 1 1 0 FDXR 2232 broad.mit.edu 37 17 72858969 72858969 + Silent SNP A A C TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr17:72858969A>C ENST00000442102.2 - 12 1661 c.1575T>G c.(1573-1575)ccT>ccG p.P525P FDXR_ENST00000581530.1_Silent_p.P488P|FDXR_ENST00000420580.2_Silent_p.P442P|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000583917.1_Silent_p.P454P|FDXR_ENST00000293195.5_Silent_p.P482P|FDXR_ENST00000544854.1_Silent_p.P430P|FDXR_ENST00000413947.2_Silent_p.P513P|FDXR_ENST00000582944.1_Silent_p.P474P NM_001258012.1 NP_001244941.1 P22570 ADRO_HUMAN ferredoxin reductase 482 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) GCATCTCCTGAGGATCCACCA 0.692000 5 68 0 0 1 0 0 CDC7 8317 broad.mit.edu 37 1 91967356 91967356 + Nonsense_Mutation SNP T T A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr1:91967356T>A ENST00000428239.1 + 2 342 c.83T>A c.(82-84)tTa>tAa p.L28* CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28* NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAAC 0.403000 4 112 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49072961 49072961 + Silent SNP T T G TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chrX:49072961T>G ENST00000376265.2 - 27 3211 c.3150A>C c.(3148-3150)ggA>ggC p.G1050G CACNA1F_ENST00000376251.1_Silent_p.G985G|CACNA1F_ENST00000323022.5_Silent_p.G1039G NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1050 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GTGACACGTCTCCATCTGGGT 0.567000 13 1 0 0 1 0 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 3 29 0 0 1 0 0 TNFRSF6B 8771 broad.mit.edu 37 20 62328731 62328731 + Missense_Mutation SNP T T A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr20:62328731T>A ENST00000369996.1 + 2 575 c.475T>A c.(475-477)Tca>Aca p.S159T RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR NM_003823.3 NP_003814.1 O95407 TNF6B_HUMAN tumor necrosis factor receptor superfamily, member 6b, decoy 159 anti-apoptosis|apoptosis extracellular region|soluble fraction protein binding|receptor activity central_nervous_system(1)|lung(2)|skin(1) 4 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) AGGCACCTTCTCAGCCAGCAG 0.662000 11 22 0 0 1 0 0 KLHL24 54800 broad.mit.edu 37 3 183368748 183368748 + Missense_Mutation SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr3:183368748G>A ENST00000454652.1 + 4 990 c.604G>A c.(604-606)Gaa>Aaa p.E202K KLHL24_ENST00000242810.6_Missense_Mutation_p.E202K|KLHL24_ENST00000476808.1_Missense_Mutation_p.E202K Q6TFL4 KLH24_HUMAN kelch-like family member 24 202 BACK. axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) ATCCCAGCACGAAGAATTTCT 0.378000 4 86 0 0 1 0 0 PAQR8 85315 broad.mit.edu 37 6 52268717 52268717 + Missense_Mutation SNP C C T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr6:52268717C>T ENST00000442253.2 + 2 880 c.706C>T c.(706-708)Cac>Tac p.H236Y PAQR8_ENST00000360726.3_Missense_Mutation_p.H236Y NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 236 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) GGCGCTCTGTCACCTGGCTGG 0.567000 5 63 0 0 1 0 0 OR2AE1 81392 broad.mit.edu 37 7 99474462 99474462 + Silent SNP C C T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr7:99474462C>T ENST00000316368.2 - 1 218 c.195G>A c.(193-195)caG>caA p.Q65Q NM_001005276.1 NP_001005276.1 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, member 1 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2) 11 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) TGAGGGAGAGCTGGCTGAGCA 0.488000 26 37 0 0 1 0 0 TSGA13 114960 broad.mit.edu 37 7 130357704 130357704 + Nonsense_Mutation SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr7:130357704G>A ENST00000456951.1 - 7 1251 c.400C>T c.(400-402)Cag>Tag p.Q134* TSGA13_ENST00000356588.3_Nonsense_Mutation_p.Q134* Q96PP4 TSG13_HUMAN testis specific, 13 134 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) GGTTTGTGCTGATGATGACTT 0.463000 4 37 0 0 1 0 0 NXN 64359 broad.mit.edu 37 17 722762 722762 + Missense_Mutation SNP T T C TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr17:722762T>C ENST00000336868.3 - 5 828 c.737A>G c.(736-738)tAc>tGc p.Y246C NXN_ENST00000538650.1_5'UTR|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.Y138C NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin 246 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) CTCACTGAAGTACTGTTTGAA 0.632000 29 66 0 0 1 0 0 ZNF714 148206 broad.mit.edu 37 19 21299769 21299769 + Missense_Mutation SNP A A T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr19:21299769A>T ENST00000596143.1 + 5 624 c.299A>T c.(298-300)aAa>aTa p.K100I ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 GTGTACAAAAAAGGTTATGAA 0.318000 13 27 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170640699 170640699 + Missense_Mutation SNP A A G rs148262159 TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr5:170640699A>G ENST00000523189.1 + 21 2460 c.2296A>G c.(2296-2298)Aca>Gca p.T766A RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 766 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCCAACATGTACAACTCCCAT 0.418000 T TRD@ ALL 47 63 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 4 99 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 147 0 0 1 0 0 VWA5A 4013 broad.mit.edu 37 11 124016065 124016065 + Missense_Mutation SNP A A G TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr11:124016065A>G ENST00000456829.2 + 18 2527 c.2276A>G c.(2275-2277)cAt>cGt p.H759R VWA5A_ENST00000392748.1_Missense_Mutation_p.H759R|VWA5A_ENST00000360334.4_3'UTR NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 759 H -> R. p.H759R(1) autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 ATGCGTGCCCATGCAGGTAGG 0.587000 33 33 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28359926 28359926 + Missense_Mutation SNP C C T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr15:28359926C>T ENST00000261609.7 - 90 13853 c.13745G>A c.(13744-13746)gGa>gAa p.G4582E NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4582 HECT. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GTACATGAGTCCAGGAATAAA 0.502000 13 61 0 0 1 0 0 CRLF1 9244 broad.mit.edu 37 19 18704899 18704899 + Missense_Mutation SNP A A G TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr19:18704899A>G ENST00000392386.3 - 8 1424 c.1231T>C c.(1231-1233)Tcg>Ccg p.S411P CRLF1_ENST00000594325.1_Intron NM_004750.4 NP_004741.1 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 411 negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 CGTCTGCCCGAGGGCAGGATC 0.662000 4 7 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130919341 130919341 + Missense_Mutation SNP C C A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr12:130919341C>A ENST00000261655.4 - 11 2303 c.2140G>T c.(2140-2142)Gac>Tac p.D714Y RIMBP2_ENST00000536002.1_Missense_Mutation_p.D622Y|RIMBP2_ENST00000535703.1_Missense_Mutation_p.D622Y NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 714 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CTCTTGAAGTCTGGAGAGTCA 0.597000 7 159 0.0381472 0.0387527 1 1 0 BARHL1 56751 broad.mit.edu 37 9 135458234 135458234 + Missense_Mutation SNP C C T rs141976331 byFrequency TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr9:135458234C>T ENST00000263610.2 + 1 663 c.50C>T c.(49-51)gCg>gTg p.A17V BARHL1_ENST00000542090.1_Missense_Mutation_p.A17V NM_020064.3 NP_064448.1 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 17 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(2)|skin(3) 8 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) TCCCACCGCGCGGGCAGCCCC 0.662000 4 107 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3828281 3828281 + Silent SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr9:3828281G>A ENST00000324333.10 - 10 2512 c.2319C>T c.(2317-2319)acC>acT p.T773T GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.T928T NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 773 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TTTAGCCTTCGGTGTAGACAG 0.552000 3 56 0 0 1 0 0 PAQR8 85315 broad.mit.edu 37 6 52268580 52268580 + Missense_Mutation SNP C C G TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr6:52268580C>G ENST00000442253.2 + 2 743 c.569C>G c.(568-570)tCt>tGt p.S190C PAQR8_ENST00000360726.3_Missense_Mutation_p.S190C NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 190 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) GGCTGGTTATCTTGTGCTGGC 0.512000 4 86 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112272 57112272 + Silent SNP C C T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr12:57112272C>T ENST00000454682.1 - 3 3323 c.3042G>A c.(3040-3042)gtG>gtA p.V1014V NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 AGGGAGGAGTCACAGCTGGGG 0.657000 T BCL6 NHL 4 116 0 0 1 0 0 BUB1B 701 broad.mit.edu 37 15 40501921 40501921 + Silent SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr15:40501921G>A ENST00000287598.6 + 17 2424 c.2229G>A c.(2227-2229)ttG>ttA p.L743L BUB1B_ENST00000412359.3_Silent_p.L757L NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 743 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) CTGCAGAGTTGTGTATAGAAG 0.448000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 39 61 0 0 1 0 0 PAQR8 85315 broad.mit.edu 37 6 52268889 52268889 + Missense_Mutation SNP C C T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr6:52268889C>T ENST00000442253.2 + 2 1052 c.878C>T c.(877-879)aCg>aTg p.T293M PAQR8_ENST00000360726.3_Missense_Mutation_p.T293M NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 293 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) TCCATCTGTACGCTCTCCCAG 0.587000 5 56 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92577146 92577146 + Missense_Mutation SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr11:92577146G>A ENST00000298047.6 + 18 10630 c.10613G>A c.(10612-10614)cGc>cAc p.R3538H FAT3_ENST00000525166.1_Missense_Mutation_p.R3388H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3538H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3538 Cadherin 32. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACTTACATCCGCGTGCGAGTC 0.468000 TCGA Ovarian(4;0.039) 10 237 0 0 1 0 0 PAQR8 85315 broad.mit.edu 37 6 52268842 52268842 + Silent SNP C C A rs34615735 byFrequency TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr6:52268842C>A ENST00000442253.2 + 2 1005 c.831C>A c.(829-831)atC>atA p.I277I PAQR8_ENST00000360726.3_Silent_p.I277I NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 277 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) CCTGTGACATCGTGGGCCATG 0.572000 5 68 0.217242 0.217242 1 1 0 LINC00969 0 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 3 36 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33261413 33261413 + Missense_Mutation SNP G G T TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr15:33261413G>T ENST00000334528.9 - 4 1819 c.1820C>A c.(1819-1821)cCc>cAc p.P607H FMN1_ENST00000559047.1_Missense_Mutation_p.P830H|FMN1_ENST00000561249.1_Missense_Mutation_p.P732H NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 830 Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CAGCTTTTTGGGTACTAATTG 0.468000 99 133 3.77759e-48 4.02943e-48 1 1 0 MAG 4099 broad.mit.edu 37 19 35793406 35793406 + Silent SNP G G A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr19:35793406G>A ENST00000361922.4 + 7 1176 c.1026G>A c.(1024-1026)acG>acA p.T342T MAG_ENST00000392213.3_Silent_p.T342T|MAG_ENST00000537831.2_Silent_p.T317T NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 342 Ig-like C2-type 3. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) AGGGGGAGACGGTCTCTATCT 0.577000 27 47 0 0 1 0 0 BCHE 590 broad.mit.edu 37 3 165491240 165491240 + Frame_Shift_Del DEL T T - TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr3:165491240delT ENST00000264381.3 - 4 1905 c.1739delA c.(1738-1740)atfs p.N580fs BCHE_ENST00000540653.1_Frame_Shift_Del_p.N42fs NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 580 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) CATCATGTAATTGTTCCAGCG 0.313 13 7 --- --- --- --- PTPN12 0 broad.mit.edu 37 7 77221501 77221502 + Splice_Site INS - - A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr7:77221501_77221502insA ENST00000248594.6 + 6 692_693 c.e6-1 PTPN12_ENST00000435495.2_Splice_Site|PTPN12_ENST00000415482.2_Splice_Site NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 TTGGATGACAGAAAAAATGTGA 0.317 27 53 --- --- --- --- LINC00202-1 0 broad.mit.edu 37 10 27223572 27223573 + RNA INS - - A rs35951564 TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr10:27223572_27223573insA ENST00000431296.1 - 0 3159 NR_026795.1 CTACTTCTTACaaaaaataaat 0.322 2 4 --- --- --- --- HNRNPKP3 0 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 5 6 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 7 50 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26 13d967a8-324f-4f11-a766-db89703af761 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 4 7 --- --- --- ---