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 TRPM5 29850 broad.mit.edu 37 11 2433483 2433483 + Splice_Site SNP C C G TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr11:2433483C>G uc010qxl.2 - 16 2365 c.2356_splice c.e16-1 p.G786_splice TRPM5_uc001lwm.4_Splice_Site_p.G786_splice|TRPM5_uc009ydn.3_Splice_Site_p.G788_splice NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 786 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GTGAAGAAGCCCTGGGAGGGA 0.562000 46 101 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32083526 32083526 + Missense_Mutation SNP T T C TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr6:32083526T>C uc003nzn.3 - 17 2135 c.2102A>G c.(2101-2103)aAt>aGt p.N701S TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Missense_Mutation_p.N698S NM_004381 NP_004372 Q99941 ATF6B_HUMAN Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA. 701 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 TCAGGGATGATTGAGGTAGAG 0.612000 5 113 0 0 1 0 0 ERGIC2 51290 broad.mit.edu 37 12 29509405 29509405 + Missense_Mutation SNP T T C TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr12:29509405T>C uc001riv.3 - 7 615 c.482A>G c.(481-483)gAt>gGt p.D161G ERGIC2_uc001riw.3_Non-coding_Transcript NM_016570 NP_057654 Q96RQ1 ERGI2_HUMAN Homo sapiens ERGIC and golgi 2 (ERGIC2), mRNA. 161 vesicle-mediated transport ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|nucleus p.D161A(2) endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184) Arsenic trioxide(DB01169) TGATGAATCATCTTCTCTGTT 0.308000 4 76 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10404034 10404034 + Silent SNP A A G TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr17:10404034A>G uc002gmo.3 - 27 3868 c.3774T>C c.(3772-3774)gaT>gaC p.D1258D AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1258 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CACTCAGTTGATCTTCTAGAG 0.468000 4 90 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43400340 43400340 + Missense_Mutation SNP G G T TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr6:43400340G>T uc003ouy.1 + 2 837 c.622G>T c.(622-624)Gat>Tat p.D208Y ABCC10_uc003ouz.1_Missense_Mutation_p.D165Y NM_001198934 NP_001185863 Q5T3U5 MRP7_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA. 208 D -> E (in Ref. 1; AAK39642). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CCTGCCCGAGGATCAAGAACC 0.637000 18 135 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222825616 222825616 + Missense_Mutation SNP A A C TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr1:222825616A>C uc001hnl.3 + 12 4037 c.4028A>C c.(4027-4029)aAg>aCg p.K1343T MIA3_uc009xea.1_Intron|MIA3_uc001hnm.3_Missense_Mutation_p.K221T NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA. 1343 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GAGAAGGTGAAGTCTGAATGC 0.378000 6 103 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3677920 3677920 + Missense_Mutation SNP G G A TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr1:3677920G>A uc001akv.2 + 4 868 c.787G>A c.(787-789)Gag>Aag p.E263K NM_152492 NP_689705 Q2M243 CCD27_HUMAN Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA. 263 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GGAGGAGAGGGAGGCCCTGAA 0.592000 8 71 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049003 9049003 + Silent SNP T T A TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr19:9049003T>A uc002mkp.3 - 4 32832 c.32628A>T c.(32626-32628)ggA>ggT p.G10876G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10878 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGTCACTACTCCTGGTACCT 0.478000 14 110 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52605985 52605985 + Missense_Mutation SNP G G A TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr15:52605985G>A uc002aby.2 - 40 5720 c.5476C>T c.(5476-5478)Cct>Tct p.P1826S MYO5A_uc002abx.3_Missense_Mutation_p.P1799S|MYO5A_uc010ugd.1_Missense_Mutation_p.P548S NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA. 1826 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) AAGGTGACAGGAAAGATGTGT 0.473000 4 59 0 0 1 0 0 RPL4 6124 broad.mit.edu 37 15 66792426 66792426 + Missense_Mutation SNP G G A TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr15:66792426G>A uc002apv.3 - 8 1071 c.1006C>T c.(1006-1008)Cgc>Tgc p.R336C SNAPC5_uc002apu.1_5'Flank|RPL4_uc002apx.3_Missense_Mutation_p.R242C NM_000968 NP_000959 P36578 RL4_HUMAN Homo sapiens ribosomal protein L4 (RPL4), mRNA. 336 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus RNA binding|protein binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1) 17 GTGTTCCGGCGCATGGTCTTT 0.448000 12 70 0 0 1 0 0 ALG13 79868 broad.mit.edu 37 X 110951444 110951444 + Silent SNP T T C TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chrX:110951444T>C uc011msy.2 + 3 674 c.573T>C c.(571-573)gcT>gcC p.A191A ALG13_uc011msw.2_Silent_p.A113A|ALG13_uc011msx.2_Silent_p.A87A|ALG13_uc011msz.2_Silent_p.A113A|ALG13_uc011mta.2_Silent_p.A87A|ALG13_uc011mtb.2_Silent_p.A87A NM_001099922 NP_001093392 Q9NP73 ALG13_HUMAN Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA. 191 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding endometrium(2)|lung(10)|skin(1) 13 CTTGCCACGCTTTTTTTCCTC 0.483000 3 84 0 0 1 0 0 IFI16 3428 broad.mit.edu 37 1 158990261 158990261 + Missense_Mutation SNP G G A TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr1:158990261G>A uc001ftg.3 + 5 1393 c.1103G>A c.(1102-1104)cGa>cAa p.R368Q IFI16_uc010pis.2_Missense_Mutation_p.R312Q|IFI16_uc010pit.2_Missense_Mutation_p.R368Q NM_005531 NP_005522 Q16666 IF16_HUMAN Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA. 368 HIN-200 1. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) TTCTGCTTTCGACTTAGAAAA 0.358000 42 43 0 0 1 0 0 CHMP4B 128866 broad.mit.edu 37 20 32440008 32440009 + Splice_Site DNP CG CG AT TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr20:32440008_32440009CG>AT uc002xaa.3 + 4 775 c.610_splice c.e4+1 p.A204_splice NM_176812 NP_789782 Q9H444 CHM4B_HUMAN Homo sapiens charged multivesicular body protein 4B (CHMP4B), mRNA. 204 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 CATCAAAACCCGGTGAGTGCTT 0.495000 5 176 0 0 1 0 0 TCF3 6929 broad.mit.edu 37 19 1627410 1627410 + Missense_Mutation SNP C C T TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr19:1627410C>T uc002ltq.3 - 2 200 c.161G>A c.(160-162)cGg>cAg p.R54Q TCF3_uc002ltt.4_Missense_Mutation_p.R105Q|TCF3_uc002ltr.3_Missense_Mutation_p.R105Q|TCF3_uc002lts.1_Missense_Mutation_p.R21Q NM_003200 NP_003191 P15923 TFE2_HUMAN Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA. 105 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATAGGCGCCCCGCTCACCGCT 0.617000 T """PBX1, HLF, TFPT""" pre B-ALL 9 11 0 0 1 0 0 FRRS1 391059 broad.mit.edu 37 1 100181191 100181191 + Missense_Mutation SNP G G T TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr1:100181191G>T uc001dsh.1 - 11 1876 c.1274C>A c.(1273-1275)aCc>aAc p.T425N MIR548D1_uc021oqn.1_5'Flank NM_001013660 NP_001013682 Q6ZNA5 FRRS1_HUMAN Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA. 425 Cytochrome b561. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) AGCAATGCAGGTGAGGACAGT 0.373000 23 59 0 0 1 0 0 FAM5C 339479 broad.mit.edu 37 1 190129933 190129933 + Missense_Mutation SNP T T G TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr1:190129933T>G uc001gse.1 - 6 1281 c.1049A>C c.(1048-1050)aAt>aCt p.N350T FAM5C_uc010pot.1_Missense_Mutation_p.N248T NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 350 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCGCTGAAAATTAGAATCCAT 0.353000 4 134 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130487098 130487098 + Frame_Shift_Del DEL T T - TCGA-EM-A2CJ-01A-11D-A17V-08 TCGA-EM-A2CJ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx d71fe053-8273-4eaa-963a-3404ac0e5d83 45f2c6ed-96be-4e86-8e93-1eb61a6a09ac g.chr9:130487098delT uc004brq.1 + 8 1248 c.1181delT c.(1180-1182)ctgfs p.L394fs PTRH1_uc011mah.2_5'UTR|TTC16_uc011mai.1_Frame_Shift_Del_p.L381fs|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_5'UTR NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA. 394 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 GCGCTGGCGCTGAGCCCTCAG 0.682 15 14 --- --- --- ---