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 EML5 161436 broad.mit.edu 37 14 89154654 89154654 + Silent SNP C C T rs118043831 by1000genomes TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr14:89154654C>T ENST00000554922.1 - 18 2951 c.2703G>A c.(2701-2703)gcG>gcA p.A901A EML5_ENST00000352093.5_Silent_p.A863A|EML5_ENST00000380664.5_Silent_p.A901A NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 901 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GCCCATCATGCGCTTTCACTG 0.388000 4 214 0 0 1 0 0 EARS2 124454 broad.mit.edu 37 16 23544062 23544062 + Missense_Mutation SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr16:23544062G>A ENST00000449606.1 - 5 1014 c.983C>T c.(982-984)cCg>cTg p.P328L EARS2_ENST00000563459.1_Missense_Mutation_p.P328L|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563232.1_Missense_Mutation_p.P328L|EARS2_ENST00000564501.1_Missense_Mutation_p.P328L NM_001083614.1 NP_001077083.1 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 328 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) GATCAGCTCCGGCAGGGTCCT 0.532000 8 31 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76237544 76237544 + Silent SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr11:76237544G>A ENST00000529032.1 + 12 1860 c.1860G>A c.(1858-1860)aaG>aaA p.K620K C11orf30_ENST00000524490.1_Silent_p.K536K|C11orf30_ENST00000533248.1_Silent_p.K634K|C11orf30_ENST00000525038.1_Silent_p.K635K|C11orf30_ENST00000524767.1_Silent_p.K635K|C11orf30_ENST00000525919.1_Silent_p.K621K|C11orf30_ENST00000334736.3_Silent_p.K620K|C11orf30_ENST00000343878.3_Silent_p.K620K Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 620 Thr-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 CAGGAGCAAAGCCAGCTATCC 0.378000 5 51 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 72039275 72039275 + Missense_Mutation SNP T T C TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr15:72039275T>C ENST00000355327.3 + 13 2269 c.2135T>C c.(2134-2136)cTg>cCg p.L712P THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.L712P|THSD4_ENST00000357769.4_Missense_Mutation_p.L352P Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 712 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AACCGCAGCCTGACGGTGCAG 0.642000 7 28 0 0 1 0 0 EIF5 1983 broad.mit.edu 37 14 103806053 103806053 + Missense_Mutation SNP G G C TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr14:103806053G>C ENST00000216554.3 + 10 1660 c.984G>C c.(982-984)caG>caC p.Q328H EIF5_ENST00000558506.1_Missense_Mutation_p.Q328H|EIF5_ENST00000392715.2_Missense_Mutation_p.Q328H NM_001969.4 NP_001960.2 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 328 W2. regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) ATCAAGCTCAGCTTATCTCCA 0.433000 8 42 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 23 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201185695 201185695 + Missense_Mutation SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr1:201185695G>A ENST00000335211.4 + 16 9539 c.9409G>A c.(9409-9411)Gtg>Atg p.V3137M IGFN1_ENST00000295591.8_Missense_Mutation_p.V297M NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGAGTGCTACGTGGTGGAGAG 0.667000 3 20 0 0 1 0 0 MALAT1 0 broad.mit.edu 37 11 65273824 65273824 + RNA SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr11:65273824G>A ENST00000534336.1 + 0 8592 NR_002819.2 ATATTTACACGAGAACCTAAT 0.363000 4 18 0 0 1 0 0 PAX7 5081 broad.mit.edu 37 1 18961619 18961619 + Silent SNP G G T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr1:18961619G>T ENST00000420770.2 + 3 419 c.336G>T c.(334-336)ccG>ccT p.P112P PAX7_ENST00000400661.3_Silent_p.P112P|PAX7_ENST00000375375.3_Silent_p.P112P NM_001135254.1 NP_001128726.1 P23759 PAX7_HUMAN paired box 7 112 Paired. anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) TGGCGACTCCGGATGTAGAGA 0.522000 T FOXO1A alveolar rhabdomyosarcoma 3 50 0.00024832 0.000266714 1 1 0 AKR1A1 10327 broad.mit.edu 37 1 46032655 46032655 + Missense_Mutation SNP C C G TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr1:46032655C>G ENST00000372070.3 + 5 1066 c.319C>G c.(319-321)Ctg>Gtg p.L107V AKR1A1_ENST00000351829.4_Missense_Mutation_p.L107V|AKR1A1_ENST00000471651.1_3'UTR NM_001202413.1|NM_001202414.1|NM_006066.3 NP_001189342.1|NP_001189343.1|NP_006057.1 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 (aldehyde reductase) 107 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding lung(3)|prostate(1)|urinary_tract(1) 5 Acute lymphoblastic leukemia(166;0.155) GCTGGAGTATCTGGACCTGTA 0.562000 6 60 0 0 1 0 0 NSMCE2 286053 broad.mit.edu 37 8 126163474 126163474 + Silent SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr8:126163474G>A ENST00000287437.3 + 4 435 c.219G>A c.(217-219)cgG>cgA p.R73R NSMCE2_ENST00000517315.1_Silent_p.R13R|NSMCE2_ENST00000522563.1_Silent_p.R73R NM_173685.2 NP_775956.1 Q96MF7 NSE2_HUMAN non-SMC element 2, MMS21 homolog (S. cerevisiae) 73 DNA recombination|DNA repair nucleus ligase activity|zinc ion binding breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 9 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CATTGGATCGGCAACTAAACC 0.328000 4 219 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28194061 28194061 + Missense_Mutation SNP C C A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr22:28194061C>A ENST00000302326.4 - 1 3425 c.2471G>T c.(2470-2472)tGc>tTc p.C824F NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 824 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 CGCAGCCAGGCAGCTCTGGCC 0.632000 T ETV6 """AML, meningioma""" 11 73 3.07112e-06 3.36085e-06 1 1 0 LINGO4 339398 broad.mit.edu 37 1 151773576 151773576 + Silent SNP C C T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr1:151773576C>T ENST00000368820.3 - 2 2542 c.1605G>A c.(1603-1605)gtG>gtA p.V535V NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 535 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CGACTGCCAGCACCATGGCCA 0.567000 20 121 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49005949 49005949 + Missense_Mutation SNP A A G TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr4:49005949A>G ENST00000226432.4 + 7 1183 c.1000A>G c.(1000-1002)Aca>Gca p.T334A CWH43_ENST00000513409.1_Missense_Mutation_p.T307A NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 334 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TGCCTGGTGCACAGCTTTTAA 0.398000 5 34 0 0 1 0 0 PRPSAP2 5636 broad.mit.edu 37 17 18833976 18833976 + Missense_Mutation SNP T T A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr17:18833976T>A ENST00000268835.2 + 12 1358 c.1075T>A c.(1075-1077)Tcc>Acc p.S359T PRPSAP2_ENST00000536323.1_Missense_Mutation_p.S273T|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.S319T|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.S310T NM_002767.3 NP_002758.1 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 2 359 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 GGAGTCCATGTCCTACCTTTT 0.478000 10 58 0 0 1 0 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36357265 36357265 + Missense_Mutation SNP C C T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr17:36357265C>T ENST00000312412.4 - 9 987 c.988G>A c.(988-990)Gca>Aca p.A330T RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.A175T|TBC1D3_ENST00000537432.1_5'UTR kidney(1)|lung(3) 4 ATAAGCAATGCAGTCTCCCTA 0.378000 4 49 0 0 1 0 0 CD72 971 broad.mit.edu 37 9 35616600 35616600 + Missense_Mutation SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr9:35616600G>A ENST00000396757.1 - 5 513 c.349C>T c.(349-351)Cgc>Tgc p.R117C CD72_ENST00000259633.4_Missense_Mutation_p.R117C|CD72_ENST00000490239.1_5'UTR|CD72_ENST00000378431.1_Missense_Mutation_p.R117C P21854 CD72_HUMAN CD72 molecule 117 axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TACTCACAGCGCACTCCCAGG 0.592000 8 36 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33276241 33276241 + Missense_Mutation SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr1:33276241G>A ENST00000373477.4 - 3 1239 c.331C>T c.(331-333)Ccc>Tcc p.P111S NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 111 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TTCTCCAAGGGCACACCAATG 0.473000 3 58 0 0 1 0 0 MBL2 4153 broad.mit.edu 37 10 54531228 54531228 + Silent SNP C C T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr10:54531228C>T ENST00000373968.3 - 1 232 c.168G>A c.(166-168)aaG>aaA p.K56K NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 56 Collagen-like. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 CCTTTTCTCCCTTGGTGCCAT 0.542000 3 29 0 0 1 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3643249 3643249 + Silent SNP C C T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr19:3643249C>T ENST00000335312.3 - 13 1729 c.1641G>A c.(1639-1641)ccG>ccA p.P547P PIP5K1C_ENST00000539785.1_Silent_p.P547P|PIP5K1C_ENST00000537021.1_Silent_p.P547P|PIP5K1C_ENST00000589578.1_Silent_p.P547P NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 547 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) ACCTGTACCGCGGCTGCTCCG 0.652000 6 50 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73010746 73010746 + Missense_Mutation SNP C C G TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr7:73010746C>G ENST00000313375.3 - 12 1933 c.1886G>C c.(1885-1887)cGt>cCt p.R629P MLXIPL_ENST00000429400.2_Missense_Mutation_p.R629P|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R535P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R629P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R536P|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R629P NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 629 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) GGGAGAGACACGGACGCTCAG 0.652000 6 62 0 0 1 0 0 PIGT 51604 broad.mit.edu 37 20 44054316 44054316 + Silent SNP C C A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr20:44054316C>A ENST00000279036.6 + 12 1667 c.1587C>A c.(1585-1587)atC>atA p.I529I PIGT_ENST00000545755.1_Silent_p.I267I|PIGT_ENST00000341555.5_Silent_p.I335I|PIGT_ENST00000535404.1_Silent_p.I374I|PIGT_ENST00000543458.2_Silent_p.I473I|PIGT_ENST00000279035.9_Silent_p.I427I|PIGT_ENST00000372689.5_Silent_p.I462I NM_015937.5 NP_057021.2 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, class T 529 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1) 22 Myeloproliferative disorder(115;0.0122) ACAACGTGATCTGCCTCACGT 0.597000 3 26 0.115264 0.115264 1 1 0 TUBGCP4 27229 broad.mit.edu 37 15 43669217 43669217 + Silent SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr15:43669217G>A ENST00000564079.1 + 4 576 c.336G>A c.(334-336)ctG>ctA p.L112L TUBGCP4_ENST00000260383.7_Silent_p.L112L|TUBGCP4_ENST00000399460.3_5'UTR NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 112 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) TGCAGTTCCTGGGTGATCCCC 0.378000 8 45 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79945312 79945312 + Silent SNP A A G TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chrX:79945312A>G ENST00000373275.4 - 33 3978 c.3762T>C c.(3760-3762)taT>taC p.Y1254Y BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1254 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TAATTTTATTATAAGTATCCA 0.289000 3 11 0 0 1 0 0 PCDHA9 0 broad.mit.edu 37 5 140229383 140229383 + Missense_Mutation SNP C C G TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr5:140229383C>G ENST00000378122.3 + 1 2027 c.1303C>G c.(1303-1305)Ctg>Gtg p.L435V PCDHA9_ENST00000532602.1_Missense_Mutation_p.L435V|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCGCCTTCACTGTGGGCCAC 0.622000 14 132 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454624 84454624 + Missense_Mutation SNP G G T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr13:84454624G>T ENST00000377084.2 - 1 1904 c.1019C>A c.(1018-1020)cCc>cAc p.P340H NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 340 LRRNT 2. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CCCAGGGCAGGGTAAACTGTT 0.542000 8 106 0.0477658 0.0486038 1 1 0 TNKS2 80351 broad.mit.edu 37 10 93590737 93590737 + Silent SNP A A C TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr10:93590737A>C ENST00000371627.4 + 10 1541 c.1162A>C c.(1162-1164)Aga>Cga p.R388R NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 388 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) ACTGTTGCTAAGAAAAGGAGC 0.294000 5 28 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11312644 11312644 + Missense_Mutation SNP A A G TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr10:11312644A>G ENST00000379261.4 + 7 705 c.613A>G c.(613-615)Atc>Gtc p.I205V CELF2_ENST00000399850.3_Missense_Mutation_p.I181V|CELF2_ENST00000416382.2_Missense_Mutation_p.I205V|CELF2_ENST00000542579.1_Missense_Mutation_p.I212V|CELF2_ENST00000315874.3_Missense_Mutation_p.I181V|CELF2_ENST00000427450.1_Missense_Mutation_p.I181V|CELF2_ENST00000537122.1_Missense_Mutation_p.I94V|CELF2_ENST00000354897.3_Missense_Mutation_p.I181V|CELF2_ENST00000417956.2_Missense_Mutation_p.I181V|CELF2_ENST00000354440.2_Missense_Mutation_p.I181V|CELF2_ENST00000450189.1_Missense_Mutation_p.I212V NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 205 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CTCTTCACCTATCGTGGTGAA 0.577000 OREG0020007 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 54 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579364 55579364 + Missense_Mutation SNP G G A rs138368201 TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr11:55579364G>A ENST00000333973.2 + 1 511 c.422G>A c.(421-423)cGt>cAt p.R141H NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R141H(2) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGGAAGGTGCGTGTGGAGCTG 0.498000 9 85 0 0 1 0 0 OR10G3 26533 broad.mit.edu 37 14 22038732 22038732 + Silent SNP A A T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr14:22038732A>T ENST00000303532.1 - 1 143 c.144T>A c.(142-144)acT>acA p.T48T NM_001005465.1 NP_001005465.1 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, member 3 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) CTGCCCAGACAGTGATTAAAA 0.468000 3 28 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233393299 233393299 + Missense_Mutation SNP C C T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr2:233393299C>T ENST00000258385.3 + 5 474 c.442C>T c.(442-444)Cgc>Tgc p.R148C CHRND_ENST00000457943.2_Silent_p.S57S|CHRND_ENST00000543200.1_Missense_Mutation_p.R133C|CHRND_ENST00000536614.1_Missense_Mutation_p.R148C NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 148 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) TGCCATCTTCCGCTCCTCCTG 0.587000 4 125 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38159066 38159066 + Splice_Site SNP C C G TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr13:38159066C>G ENST00000379747.4 - 8 1013 c.e8-1 POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TTCATAAGAGCTGGAGAACAC 0.383000 3 26 0 0 1 0 0 CAMK1G 57172 broad.mit.edu 37 1 209773408 209773408 + Missense_Mutation SNP C C A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr1:209773408C>A ENST00000009105.1 + 3 418 c.173C>A c.(172-174)cCt>cAt p.P58H CAMK1G_ENST00000361322.2_Missense_Mutation_p.P58H Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 58 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) AAGAAGTCACCTGCCTTCCGG 0.463000 8 44 0.000274275 0.000289236 1 1 0 SPOP 8405 broad.mit.edu 37 17 47696432 47696432 + Missense_Mutation SNP A A G TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr17:47696432A>G ENST00000393331.3 - 7 861 c.391T>C c.(391-393)Tgg>Cgg p.W131R SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R|SPOP_ENST00000393328.2_Missense_Mutation_p.W131R|SPOP_ENST00000503676.1_Missense_Mutation_p.W131R NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.W131G(2)|p.W131R(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TTGAATCCCCAGTCTTTGCCT 0.458000 Prostate(2;0.17) 18 98 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49412958 49412958 + Missense_Mutation SNP A A C TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr3:49412958A>C ENST00000418115.1 - 2 449 c.65T>G c.(64-66)cTc>cGc p.L22R RHOA_ENST00000454011.2_Missense_Mutation_p.L22R|RHOA_ENST00000422781.1_Missense_Mutation_p.L22R NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 22 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) GAAGACTATGAGCAAGCATGT 0.473000 17 90 0 0 1 0 0 SOX9 6662 broad.mit.edu 37 17 70119078 70119078 + Missense_Mutation SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr17:70119078G>A ENST00000245479.2 + 2 1022 c.650G>A c.(649-651)gGc>gAc p.G217D NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 217 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) TCCTCCTCCGGCATGAGCGAG 0.697000 4 110 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111397722 111397722 + Missense_Mutation SNP C C T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr4:111397722C>T ENST00000265162.5 + 1 494 c.152C>T c.(151-153)cCg>cTg p.P51L NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 51 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GACGGCGGGCCGGGCACTGCG 0.647000 8 72 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 3 69 0 0 1 0 0 ELMO2 63916 broad.mit.edu 37 20 45003941 45003941 + Silent SNP G G T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr20:45003941G>T ENST00000372176.1 - 13 1203 c.735C>A c.(733-735)gcC>gcA p.A245A ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Silent_p.A345A|ELMO2_ENST00000454865.2_Silent_p.A65A|ELMO2_ENST00000445496.2_Silent_p.A150A|ELMO2_ENST00000396391.1_Silent_p.A333A|ELMO2_ENST00000290246.6_Silent_p.A333A|ELMO2_ENST00000352077.2_Silent_p.A331A Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 333 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) CACTCCCAGGGGCATTGCTAG 0.498000 6 50 2.0095e-06 2.28531e-06 1 1 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 29 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66083072 66083072 + Missense_Mutation SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr14:66083072G>A ENST00000360689.5 + 5 2190 c.463G>A c.(463-465)Gat>Aat p.D155N FUT8_ENST00000358307.2_5'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.D155N|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000394585.1_Missense_Mutation_p.D155N NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 155 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) ATTTCTTTTGGATTTAGGACA 0.328000 9 63 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21689273 21689273 + Missense_Mutation SNP C C T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr20:21689273C>T ENST00000398485.2 + 3 1048 c.994C>T c.(994-996)Ccc>Tcc p.P332S PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.P308S NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 332 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CACGGCCTTCCCCGCCACCCC 0.602000 6 74 0 0 1 0 0 PPIL4 85313 broad.mit.edu 37 6 149826699 149826699 + Missense_Mutation SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr6:149826699G>A ENST00000253329.2 - 13 1401 c.1369C>T c.(1369-1371)Cat>Tat p.H457Y PPIL4_ENST00000340881.2_Silent_p.V89V NM_139126.3 NP_624311.1 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 457 protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) TTTGATTTATGACTATTACTA 0.383000 12 71 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136573529 136573529 + Silent SNP C C T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr9:136573529C>T ENST00000371872.4 - 11 1607 c.1350G>A c.(1348-1350)acG>acA p.T450T SARDH_ENST00000422262.2_Silent_p.T282T|SARDH_ENST00000439388.1_Silent_p.T450T NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 450 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GGGGGTGGTCCGTGAGCGAGT 0.652000 17 75 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216138762 216138762 + Silent SNP T T C TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr1:216138762T>C ENST00000366943.2 - 37 7403 c.7017A>G c.(7015-7017)acA>acG p.T2339T USH2A_ENST00000307340.3_Silent_p.T2339T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2339 Fibronectin type-III 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGGATCCCTGTGTTTTGACAA 0.413000 HNSCC(13;0.011) 14 102 0 0 1 0 0 SLC2A5 6518 broad.mit.edu 37 1 9107756 9107756 + Missense_Mutation SNP C C T rs138176474 byFrequency TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr1:9107756C>T ENST00000377424.4 - 4 510 c.331G>A c.(331-333)Gtg>Atg p.V111M SLC2A5_ENST00000536305.1_Missense_Mutation_p.V52M|SLC2A5_ENST00000377414.3_Missense_Mutation_p.V111M|SLC2A5_ENST00000535586.1_De_novo_Start_InFrame NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 111 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) ATCGCAGGCACGATAGAAAAT 0.393000 13 104 0 0 1 0 0 COLEC11 78989 broad.mit.edu 37 2 3691463 3691463 + Missense_Mutation SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr2:3691463G>A ENST00000403096.3 + 6 984 c.493G>A c.(493-495)Gca>Aca p.A165T COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000382062.2_Missense_Mutation_p.A167T|COLEC11_ENST00000349077.4_Missense_Mutation_p.A191T|COLEC11_ENST00000236693.7_Missense_Mutation_p.A188T|COLEC11_ENST00000402794.1_Missense_Mutation_p.A141T|COLEC11_ENST00000418971.2_Missense_Mutation_p.A205T|COLEC11_ENST00000404205.1_Missense_Mutation_p.A117T|COLEC11_ENST00000402922.1_Missense_Mutation_p.A141T NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 191 C-type lectin. collagen mannose binding p.A205T(1)|p.A188T(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CCTGATGGCCGCATACCTGGC 0.672000 3 29 0 0 1 0 0 TMEM150B 284417 broad.mit.edu 37 19 55824409 55824409 + Missense_Mutation SNP C C T TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr19:55824409C>T ENST00000326652.4 - 8 702 c.520G>A c.(520-522)Gcc>Acc p.A174T TMEM150B_ENST00000438693.1_Missense_Mutation_p.A174T A6NC51 T150B_HUMAN transmembrane protein 150B 174 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 AGCGAGCAGGCGTGGAGGACG 0.682000 4 17 0 0 1 0 0 SDSL 113675 broad.mit.edu 37 12 113875804 113875804 + Missense_Mutation SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr12:113875804G>A ENST00000403593.4 + 8 1172 c.910G>A c.(910-912)Gtt>Att p.V304I SDSL_ENST00000345635.4_Missense_Mutation_p.V304I Q96GA7 SDSL_HUMAN serine dehydratase-like 304 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) CCTGACTTCAGTTGTGGTAAT 0.632000 25 169 0 0 1 0 0 AK3 50808 broad.mit.edu 37 9 4722560 4722560 + Missense_Mutation SNP G G A TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr9:4722560G>A ENST00000381809.3 - 2 447 c.217C>T c.(217-219)Cgg>Tgg p.R73W AK3_ENST00000447596.4_Intron|AK3_ENST00000359883.2_Missense_Mutation_p.R3W NM_016282.3 NP_057366.2 Q9UIJ7 KAD3_HUMAN adenylate kinase 3 73 blood coagulation mitochondrial matrix ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity large_intestine(2)|lung(1)|ovary(2) 5 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0302) AGGGCCAGCCGAGTCATGACA 0.463000 3 46 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142699964 142699965 + RNA INS - - ATC rs74315780 TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr1:142699964_142699965insATC ENST00000369381.2 - 0 2077 atatatatatatCCAAAATATA 0.262 2 4 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114292110 114292112 + In_Frame_Del DEL CTG CTG - TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr6:114292110_114292112delCTG ENST00000398283.2 - 1 247_249 c.243_245delCAG c.(241-246)agg>ag p.SR81del RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000519065.1_5'UTR NM_001527.3 NP_001518.3 Q92769 HDAC2_HUMAN histone deacetylase 2 0 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding p.S81R(1) biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GCTCCTCCTCctgctgctgctgc 0.685 2 4 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr12:113704096_113704098delCTG ENST00000550785.1 + 5 734_736 c.565_567delCTG c.(565-567)del p.L194del TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 122 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCACGGCCCTGCTGCTGCTGC 0.640 8 343 --- --- --- --- TANGO2 128989 broad.mit.edu 37 22 20049058 20049058 + Frame_Shift_Del DEL T T - TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26e0ebbb-acc0-42da-8ba0-893de310f978 4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a g.chr22:20049058delT ENST00000327374.4 + 7 635 c.457delT c.(457-459)acfs p.Y153fs TANGO2_ENST00000420290.2_Frame_Shift_Del_p.Y55fs|TANGO2_ENST00000401833.1_Frame_Shift_Del_p.Y194fs|TANGO2_ENST00000401886.1_Frame_Shift_Del_p.Y91fs|TANGO2_ENST00000398042.2_Frame_Shift_Del_p.Y91fs|TANGO2_ENST00000456048.1_Frame_Shift_Del_p.Y158fs|TANGO2_ENST00000447208.2_Frame_Shift_Del_p.Y153fs|TANGO2_ENST00000434570.2_Intron|TANGO2_ENST00000432883.1_Frame_Shift_Del_p.Y91fs NM_152906.4 NP_690870.3 transport and golgi organization 2 homolog (Drosophila) CACAGGCACCTACGGGCTGAG 0.632 2 4 --- --- --- ---