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 KCNA3 3738 broad.mit.edu 37 1 111216224 111216224 + Missense_Mutation SNP A A C TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr1:111216224A>C ENST00000369769.2 - 1 1431 c.1208T>G c.(1207-1209)tTc>tGc p.F403C NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 403 voltage-gated potassium channel complex delayed rectifier potassium channel activity p.F403S(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAGAGGAAGAAGATGAGCAA 0.582 23 35 --- --- --- --- HIPK1 204851 broad.mit.edu 37 1 114483922 114483922 + Missense_Mutation SNP T T G TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr1:114483922T>G ENST00000369558.1 + 2 1149 c.917T>G c.(916-918)cTc>cGc p.L306R HIPK1_ENST00000369554.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369559.4_Missense_Mutation_p.L306R|HIPK1_ENST00000426820.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369561.4_Missense_Mutation_p.L306R|HIPK1_ENST00000369555.2_Missense_Mutation_p.L306R Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 306 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGATGAAGCTCAAGAGTCTT 0.463 10 66 --- --- --- --- HIPK1 204851 broad.mit.edu 37 1 114483936 114483936 + Missense_Mutation SNP C C G TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr1:114483936C>G ENST00000369558.1 + 2 1163 c.931C>G c.(931-933)Ctg>Gtg p.L311V HIPK1_ENST00000369554.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369559.4_Missense_Mutation_p.L311V|HIPK1_ENST00000426820.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369561.4_Missense_Mutation_p.L311V|HIPK1_ENST00000369555.2_Missense_Mutation_p.L311V Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 311 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.L311L(2) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGTCTTGGTCTGATCCACGC 0.478 11 69 --- --- --- --- RGS21 431704 broad.mit.edu 37 1 192335057 192335057 + Missense_Mutation SNP A A C TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr1:192335057A>C ENST00000417209.2 + 5 436 c.262A>C c.(262-264)Att>Ctt p.I88L NM_001039152.3 NP_001034241.1 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 88 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 ACAGATTAACATTGACTTCGG 0.303 29 45 --- --- --- --- IGKV1D-8 28904 broad.mit.edu 37 2 90260218 90260218 + RNA SNP T T A TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr2:90260218T>A ENST00000471857.1 + 0 502 ATTTTGCAACTTATTACTGTC 0.498 8 136 --- --- --- --- FBLN2 2199 broad.mit.edu 37 3 13659706 13659706 + Silent SNP C C T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr3:13659706C>T ENST00000404922.3 + 6 1979 c.1860C>T c.(1858-1860)tgC>tgT p.C620C FBLN2_ENST00000535798.1_Silent_p.C646C|FBLN2_ENST00000492059.1_Silent_p.C620C|FBLN2_ENST00000295760.7_Silent_p.C620C NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 620 EGF-like 1; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AGCACCTTTGCATCAATACTG 0.627 39 54 --- --- --- --- ITGA9 3680 broad.mit.edu 37 3 37512505 37512505 + Missense_Mutation SNP G G A TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr3:37512505G>A ENST00000264741.5 + 2 449 c.193G>A c.(193-195)Gtg>Atg p.V65M ITGA9_ENST00000422441.1_Missense_Mutation_p.V65M NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 65 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CAGGGTCCTTGTGGGCGCACC 0.522 13 34 --- --- --- --- XRN1 54464 broad.mit.edu 37 3 142141706 142141706 + Missense_Mutation SNP A A T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr3:142141706A>T ENST00000264951.4 - 7 886 c.769T>A c.(769-771)Tat>Aat p.Y257N XRN1_ENST00000544157.1_Missense_Mutation_p.Y47N|XRN1_ENST00000392981.2_Missense_Mutation_p.Y257N|XRN1_ENST00000463916.1_Missense_Mutation_p.Y257N NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 257 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TAGTCAATATACTCTCTCATT 0.328 18 52 --- --- --- --- GZMK 3003 broad.mit.edu 37 5 54326364 54326364 + Missense_Mutation SNP C C G TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr5:54326364C>G ENST00000231009.2 + 3 385 c.315C>G c.(313-315)ttC>ttG p.F105L CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 105 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TTATACCATTCTCAAGAGTTA 0.388 29 49 --- --- --- --- F13A1 2162 broad.mit.edu 37 6 6225029 6225029 + Missense_Mutation SNP A A T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr6:6225029A>T ENST00000264870.3 - 7 1128 c.863T>A c.(862-864)gTc>gAc p.V288D NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 288 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CGATGGGGGGACGCCATAGGC 0.507 41 49 --- --- --- --- PRRC2A 7916 broad.mit.edu 37 6 31590551 31590551 + Translation_Start_Site SNP A A T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr6:31590551A>T ENST00000376033.2 + 0 219 PRRC2A_ENST00000376007.4_De_novo_Start_OutOfFrame|PRRC2A_ENST00000469577.1_Intron NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 AACATACTCAATGAGCTTCCA 0.547 4 128 --- --- --- --- TINAG 27283 broad.mit.edu 37 6 54216177 54216177 + Nonsense_Mutation SNP C C T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr6:54216177C>T ENST00000259782.4 + 8 1204 c.1108C>T c.(1108-1110)Caa>Taa p.Q370* NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 370 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) AGAAATCATGCAAAATGGACC 0.318 7 20 --- --- --- --- VNN3 55350 broad.mit.edu 37 6 133045963 133045963 + Missense_Mutation SNP T T C TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr6:133045963T>C ENST00000207771.3 - 6 1054 c.982A>G c.(982-984)Aag>Gag p.K328E VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000425515.2_3'UTR vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) GAAAATGGCTTGACACTGCTG 0.478 4 101 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100683098 100683098 + Missense_Mutation SNP C C T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr7:100683098C>T ENST00000306151.4 + 3 8465 c.8401C>T c.(8401-8403)Cca>Tca p.P2801S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2801 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P2801S(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCTCAAC 0.502 7 368 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 2824233 2824233 + Missense_Mutation SNP C C T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr8:2824233C>T ENST00000520002.1 - 59 9517 c.8962G>A c.(8962-8964)Gga>Aga p.G2988R CSMD1_ENST00000537824.1_Missense_Mutation_p.G2987R|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2988R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2988 Sushi 23. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACAATCATTCCGTTGGTGGGT 0.527 7 8 --- --- --- --- ADRA1A 148 broad.mit.edu 37 8 26628173 26628173 + Silent SNP G G A TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr8:26628173G>A ENST00000380573.3 - 3 1917 c.894C>T c.(892-894)ttC>ttT p.F298F ADRA1A_ENST00000380582.3_Silent_p.F298F|ADRA1A_ENST00000519229.1_Silent_p.F298F|ADRA1A_ENST00000276393.4_Silent_p.F298F|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Silent_p.F298F|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000354550.4_Silent_p.F298F P35348 ADA1A_HUMAN adrenoceptor alpha 1A 298 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) TGAAATCAGGGAAGAAAGACC 0.388 16 25 --- --- --- --- TRPM3 80036 broad.mit.edu 37 9 73235281 73235281 + Splice_Site SNP C C T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr9:73235281C>T ENST00000377110.3 - 15 2047 c.1804G>A c.(1804-1806)Gat>Aat p.D602N TRPM3_ENST00000408909.2_Splice_Site_p.D461N|TRPM3_ENST00000358082.3_Splice_Site_p.D464N|TRPM3_ENST00000396280.5_Splice_Site_p.D451N|TRPM3_ENST00000357533.2_Splice_Site_p.D606N|TRPM3_ENST00000423814.3_Splice_Site_p.D629N|TRPM3_ENST00000396285.1_Splice_Site_p.D449N|TRPM3_ENST00000377106.1_Splice_Site_p.D474N|TRPM3_ENST00000360823.2_Splice_Site_p.D464N|TRPM3_ENST00000396292.4_Splice_Site_p.D474N|TRPM3_ENST00000377105.1_Splice_Site_p.D461N|TRPM3_ENST00000377111.2_Splice_Site_p.D602N Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GGAATATCATCCTGTAATTAC 0.443 55 85 --- --- --- --- EGR2 1959 broad.mit.edu 37 10 64573204 64573204 + Silent SNP G G A TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr10:64573204G>A ENST00000242480.3 - 2 1519 c.1194C>T c.(1192-1194)ttC>ttT p.F398F EGR2_ENST00000411732.1_Silent_p.F348F|EGR2_ENST00000439032.1_Silent_p.F398F NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 398 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) AGTCACAGGCGAAGGGCTTCT 0.587 4 131 --- --- --- --- SSRP1 6749 broad.mit.edu 37 11 57094190 57094190 + Missense_Mutation SNP C C T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr11:57094190C>T ENST00000278412.2 - 16 2311 c.2045G>A c.(2044-2046)aGg>aAg p.R682K RP11-872D17.4_ENST00000534162.1_RNA NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 682 Ser-rich. DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 GCTCCTCCTCCTCTTCTTTTT 0.542 32 41 --- --- --- --- TAF6L 10629 broad.mit.edu 37 11 62554330 62554330 + Silent SNP A A T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr11:62554330A>T ENST00000294168.3 + 11 1632 c.1431A>T c.(1429-1431)gcA>gcT p.A477A TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 477 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 AGCCGGCGGCAGCCCCGGACT 0.736 OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 9 --- --- --- --- GAB2 9846 broad.mit.edu 37 11 77934693 77934693 + Missense_Mutation SNP G G C TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr11:77934693G>C ENST00000361507.4 - 6 1417 c.1332C>G c.(1330-1332)gaC>gaG p.D444E GAB2_ENST00000340149.2_Missense_Mutation_p.D406E NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 444 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) AATTGGTGCTGTCCGATCGGC 0.488 105 141 --- --- --- --- ANO2 57101 broad.mit.edu 37 12 5853449 5853449 + Missense_Mutation SNP T T A TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr12:5853449T>A ENST00000327087.8 - 12 1284 c.1213A>T c.(1213-1215)Atg>Ttg p.M405L ANO2_ENST00000546188.1_Missense_Mutation_p.M406L|ANO2_ENST00000356134.5_Missense_Mutation_p.M406L NM_001278597.1 NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 410 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 AGGGGACACATGGTGAAGGCA 0.537 21 36 --- --- --- --- AQR 9716 broad.mit.edu 37 15 35152284 35152284 + Missense_Mutation SNP T T A TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr15:35152284T>A ENST00000156471.5 - 34 4327 c.4102A>T c.(4102-4104)Atg>Ttg p.M1368L NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 1368 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TGCATGTACATGTTGTATACA 0.313 21 36 --- --- --- --- SQRDL 58472 broad.mit.edu 37 15 45968454 45968454 + Silent SNP A A G TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr15:45968454A>G ENST00000260324.7 + 6 1196 c.810A>G c.(808-810)aaA>aaG p.K270K RP11-96O20.4_ENST00000564080.1_Silent_p.K270K|SQRDL_ENST00000568606.1_Silent_p.K270K NM_021199.3 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 270 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) GAGCCGATAAACAAGAGGCTG 0.483 49 61 --- --- --- --- IFT140 9742 broad.mit.edu 37 16 1570724 1570724 + Missense_Mutation SNP G G A TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr16:1570724G>A ENST00000426508.2 - 27 3902 c.3539C>T c.(3538-3540)tCc>tTc p.S1180F IFT140_ENST00000361339.5_Missense_Mutation_p.S374F NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 1180 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) CAGGTCCGAGGAGTCCTTGGC 0.612 7 19 --- --- --- --- LONP2 83752 broad.mit.edu 37 16 48295427 48295427 + Missense_Mutation SNP G G T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr16:48295427G>T ENST00000285737.4 + 5 909 c.816G>T c.(814-816)atG>atT p.M272I LONP2_ENST00000535754.1_Missense_Mutation_p.M228I NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 272 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 ACATTGTCATGCTAGAGAAAA 0.338 32 45 --- --- --- --- DHX40 79665 broad.mit.edu 37 17 57684397 57684397 + Missense_Mutation SNP G G C TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr17:57684397G>C ENST00000451169.2 + 21 2419 c.2060G>C c.(2059-2061)gGa>gCa p.G687A DHX40_ENST00000425628.3_Missense_Mutation_p.G658A|DHX40_ENST00000251241.4_Missense_Mutation_p.G735A Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 735 ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TTTTCAGATGGAATATCGAAA 0.358 11 12 --- --- --- --- ZNF563 147837 broad.mit.edu 37 19 12430640 12430640 + Missense_Mutation SNP T T G TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr19:12430640T>G ENST00000293725.5 - 4 404 c.199A>C c.(199-201)Atg>Ctg p.M67L ZNF563_ENST00000595977.1_Missense_Mutation_p.M67L NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 CTCTCTACCATATGACATCTG 0.308 29 46 --- --- --- --- ZNF536 9745 broad.mit.edu 37 19 30934878 30934878 + Missense_Mutation SNP A A G TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr19:30934878A>G ENST00000355537.3 + 2 556 c.409A>G c.(409-411)Aag>Gag p.K137E NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ACTCTGCGGCAAGCGCTTCCG 0.632 10 48 --- --- --- --- LSR 51599 broad.mit.edu 37 19 35753475 35753475 + Silent SNP C C T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr19:35753475C>T ENST00000602122.1 + 4 1232 c.745C>T c.(745-747)Ctg>Ttg p.L249L LSR_ENST00000347609.4_Silent_p.L231L|LSR_ENST00000427250.1_Intron|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000354900.3_Silent_p.L249L|LSR_ENST00000361790.3_Silent_p.L268L Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 268 embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TGTGGTATGCCTGGCTGCCTT 0.622 23 80 --- --- --- --- IRGQ 126298 broad.mit.edu 37 19 44099419 44099419 + Silent SNP G G A TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr19:44099419G>A ENST00000422989.1 - 2 227 c.72C>T c.(70-72)atC>atT p.I24I IRGQ_ENST00000602269.1_Silent_p.I24I NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 24 protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) ACAGCGCTGCGATCAGCGCGG 0.672 18 47 --- --- --- --- SLC6A16 28968 broad.mit.edu 37 19 49797195 49797195 + Silent SNP G G A TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr19:49797195G>A ENST00000454748.3 - 9 1708 c.1507C>T c.(1507-1509)Ctg>Ttg p.L503L SLC6A16_ENST00000335875.4_Silent_p.L503L Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 503 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) AGCAACATCAGGAAGAAGATA 0.493 33 54 --- --- --- --- C22orf23 84645 broad.mit.edu 37 22 38340508 38340508 + Silent SNP C C T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr22:38340508C>T ENST00000249079.2 - 6 754 c.498G>A c.(496-498)caG>caA p.Q166Q C22orf23_ENST00000403026.1_Silent_p.Q166Q|C22orf23_ENST00000403305.1_Silent_p.Q166Q Q9BZE7 EVG1_HUMAN chromosome 22 open reading frame 23 166 endometrium(3)|kidney(2)|large_intestine(7) 12 Melanoma(58;0.045) CTTTCCTCTCCTGGATTTCCT 0.537 3 45 --- --- --- --- CXorf23 256643 broad.mit.edu 37 X 19984249 19984249 + Missense_Mutation SNP G G A TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chrX:19984249G>A ENST00000379687.3 - 2 593 c.560C>T c.(559-561)tCa>tTa p.S187L CXorf23_ENST00000356980.3_Missense_Mutation_p.S187L|CXorf23_ENST00000379682.4_Missense_Mutation_p.S187L NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 187 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 TCTTCTAGTTGACTGGGAGTA 0.408 27 7 --- --- --- --- RBKS 64080 broad.mit.edu 37 2 28004505 28004506 + Frame_Shift_Ins INS - - T TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644108d8-dcc6-4d2d-85c0-ba6ac153cc9b 6773ad95-6d11-4f51-8b2b-5cc5ef4057ea g.chr2:28004505_28004506insT ENST00000302188.3 - 8 1697_1698 c.945_946insA c.(943-948)aaagacfs p.D316fs AC110084.1_ENST00000601759.1_Intron NM_022128.1 NP_071411.1 Q9H477 RBSK_HUMAN ribokinase 316 D-ribose metabolic process ATP binding|ribokinase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(172;0.155) AGCGGAAGGTCTTTTTTGTAAG 0.421 38 67 --- --- --- ---