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 DCHS1 8642 broad.mit.edu 37 11 6652623 6652623 + Missense_Mutation SNP G G C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr11:6652623G>C ENST00000299441.3 - 8 4102 c.3691C>G c.(3691-3693)Cct>Gct p.P1231A RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1231 Cadherin 12. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTTCCCGGAGGCACGCGGTCT 0.552000 18 150 0 0 1 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62857909 62857909 + Silent SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chrX:62857909C>T ENST00000253401.6 - 10 2350 c.1550G>A c.(1549-1551)tGa>tAa p.*517* ARHGEF9_ENST00000433323.2_Silent_p.*244*|ARHGEF9_ENST00000374872.1_Silent_p.*496*|ARHGEF9_ENST00000374870.4_Silent_p.*415*|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000437457.2_Silent_p.*464*|ARHGEF9_ENST00000495564.1_5'UTR NM_015185.2 NP_056000.1 O43307 ARHG9_HUMAN Cdc42 guanine nucleotide exchange factor (GEF) 9 0 apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 CTGTAGGTATCATTTTTTGAA 0.403000 6 1 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53243397 53243397 + Missense_Mutation SNP C C A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr16:53243397C>A ENST00000566029.1 + 3 1665 c.1456C>A c.(1456-1458)Cca>Aca p.P486T CHD9_ENST00000564845.1_Missense_Mutation_p.P486T|CHD9_ENST00000447540.1_Missense_Mutation_p.P486T|CHD9_ENST00000398510.3_Missense_Mutation_p.P486T Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 486 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TCTGTAGCCTCCATCTTCCAA 0.348000 5 14 0.217242 0.217242 1 1 0 CHD8 57680 broad.mit.edu 37 14 21860705 21860705 + Silent SNP T T A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr14:21860705T>A ENST00000399982.2 - 33 6796 c.6732A>T c.(6730-6732)cgA>cgT p.R2244R CHD8_ENST00000430710.3_Silent_p.R1965R|CHD8_ENST00000557364.1_Silent_p.R2244R NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2244 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CATCCATGCCTCGGCGAAGTT 0.517000 13 194 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 3 162 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72176033 72176033 + Missense_Mutation SNP G G A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr14:72176033G>A ENST00000555818.1 + 15 4271 c.3923G>A c.(3922-3924)cGc>cAc p.R1308H SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R762H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1287H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1287H|SIPA1L1_ENST00000554874.1_3'UTR NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1308 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GATGGGGACCGCACAGAATCC 0.537000 3 117 0 0 1 0 0 USP8 9101 broad.mit.edu 37 15 50790907 50790907 + Silent SNP T T C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr15:50790907T>C ENST00000433963.1 + 20 3653 c.3153T>C c.(3151-3153)taT>taC p.Y1051Y RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000425032.3_Silent_p.Y945Y|USP8_ENST00000307179.4_Silent_p.Y1051Y|USP8_ENST00000396444.3_Silent_p.Y1051Y NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 1051 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TGAAGAAATATAATTTGTTTT 0.328000 15 41 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 69 0 0 1 0 0 CHEK2P2 0 broad.mit.edu 37 15 20496622 20496622 + RNA SNP A A T rs2601530 by1000genomes TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr15:20496622A>T ENST00000555186.1 + 0 675 NR_038836.1 AAGTGGCCTCATGAAGGGGAA 0.438000 7 53 0 0 1 0 0 RGAG4 340526 broad.mit.edu 37 X 71351091 71351091 + Silent SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chrX:71351091C>T ENST00000545866.1 - 1 667 c.300G>A c.(298-300)tcG>tcA p.S100S NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Silent_p.S100S Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 100 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) AAAGATCATCCGAGATACAGT 0.657000 9 5 0 0 1 0 0 ENPP4 22875 broad.mit.edu 37 6 46107609 46107609 + Missense_Mutation SNP G G A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr6:46107609G>A ENST00000321037.4 + 2 519 c.289G>A c.(289-291)Gtc>Atc p.V97I NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 97 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 GTATGATGCAGTCACAAAGAA 0.388000 3 96 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77677870 77677870 + Nonsense_Mutation SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr4:77677870C>T ENST00000296043.6 + 8 5931 c.4978C>T c.(4978-4980)Cag>Tag p.Q1660* NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1660 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TCCTGATCCTCAGAAGAGTTC 0.488000 5 64 0 0 1 0 0 ZNF322 79692 broad.mit.edu 37 6 26637597 26637597 + Silent SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr6:26637597C>T ENST00000415922.2 - 4 1830 c.1185G>A c.(1183-1185)gcG>gcA p.A395A ZNF322_ENST00000471278.1_Silent_p.A395A NM_024639.4 NP_078915.2 Q6U7Q0 Z322A_HUMAN zinc finger protein 322 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding AGGCTTCTGACGCATGGGGAG 0.408000 4 131 0 0 1 0 0 DBF4B 80174 broad.mit.edu 37 17 42807322 42807322 + Missense_Mutation SNP G G A rs140298749 byFrequency TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr17:42807322G>A ENST00000315005.3 + 4 413 c.275G>A c.(274-276)cGc>cAc p.R92H DBF4B_ENST00000398338.3_Missense_Mutation_p.R92H|DBF4B_ENST00000393547.2_Missense_Mutation_p.R92H|DBF4B_ENST00000526915.1_3'UTR NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 92 BRCT. cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) GTGTCCAGCCGCAGAGAAGTA 0.488000 3 77 0 0 1 0 0 CYP4F24P 0 broad.mit.edu 37 19 15882884 15882884 + RNA SNP C C T rs3752144 by1000genomes TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr19:15882884C>T ENST00000587443.2 - 0 793 NR_033864.1 TGCATTTCTGCAGACTGTCCA 0.537000 4 172 0 0 1 0 0 SRP54 6729 broad.mit.edu 37 14 35470176 35470176 + Missense_Mutation SNP C C G TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr14:35470176C>G ENST00000556994.1 + 5 602 c.205C>G c.(205-207)Ctt>Gtt p.L69V SRP54_ENST00000546080.1_Missense_Mutation_p.L20V|SRP54_ENST00000216774.6_Missense_Mutation_p.L69V|SRP54_ENST00000555557.1_Missense_Mutation_p.L5V|SRP54_ENST00000555535.1_3'UTR P61011 SRP54_HUMAN signal recognition particle 54kDa 69 G-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding p.L69V(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) GGCATCTGGTCTTAACAAAAG 0.353000 9 30 0 0 1 0 0 ETNPPL 64850 broad.mit.edu 37 4 109675832 109675832 + Missense_Mutation SNP T T A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr4:109675832T>A ENST00000296486.3 - 5 599 c.445A>T c.(445-447)Att>Ttt p.I149F ETNPPL_ENST00000411864.2_Missense_Mutation_p.I143F|ETNPPL_ENST00000512646.1_Missense_Mutation_p.I91F|ETNPPL_ENST00000510706.1_Missense_Mutation_p.I109F NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase TATGGGCTAATCTCAATTAAG 0.313000 19 40 0 0 1 0 0 OR4D6 219983 broad.mit.edu 37 11 59225028 59225028 + Missense_Mutation SNP A A G TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr11:59225028A>G ENST00000300127.2 + 1 618 c.595A>G c.(595-597)Atg>Gtg p.M199V NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 GGAGCTTTTCATGATCTCTAA 0.537000 8 116 0 0 1 0 0 CDH3 1001 broad.mit.edu 37 16 68712160 68712160 + Missense_Mutation SNP T T C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr16:68712160T>C ENST00000264012.4 + 4 914 c.370T>C c.(370-372)Ttc>Ctc p.F124L CDH3_ENST00000581171.1_Missense_Mutation_p.F69L|CDH3_ENST00000429102.2_Missense_Mutation_p.F124L NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 124 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CAAGGGTCCCTTCCCCCAGAG 0.507000 34 96 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23520453 23520453 + Missense_Mutation SNP A A G TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr1:23520453A>G ENST00000374619.1 - 1 769 c.260T>C c.(259-261)gTt>gCt p.V87A HTR1D_ENST00000314113.3_Missense_Mutation_p.V87A NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 87 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) CAAGATGGAAACCAAGAGGTC 0.532000 45 145 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15965015 15965015 + Missense_Mutation SNP T T C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr17:15965015T>C ENST00000268712.3 - 37 5838 c.5581A>G c.(5581-5583)Agt>Ggt p.S1861G NCOR1_ENST00000395857.3_Missense_Mutation_p.S445G|NCOR1_ENST00000395851.1_Intron NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1861 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGCTGTTCACTAACTGCTGCT 0.483000 43 97 0 0 1 0 0 KLK7 5650 broad.mit.edu 37 19 51480876 51480876 + Silent SNP G G A rs17855561 TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr19:51480876G>A ENST00000391807.1 - 6 779 c.678C>T c.(676-678)tgC>tgT p.C226C KLK7_ENST00000595820.1_Silent_p.C226C|KLK7_ENST00000336317.4_Silent_p.C113C|KLK7_ENST00000597707.1_Silent_p.C154C|CTB-147C22.9_ENST00000594512.1_RNA NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 226 Peptidase S1. C -> W (in Ref. 6; AAH32005). epidermis development|proteolysis extracellular region serine-type endopeptidase activity p.C226C(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) TGGGTTGGCCGCAAGGGAAAG 0.517000 3 58 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37650913 37650913 + Missense_Mutation SNP T T G TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr17:37650913T>G ENST00000447079.4 + 5 2418 c.2385T>G c.(2383-2385)gaT>gaG p.D795E CDK12_ENST00000430627.2_Missense_Mutation_p.D795E NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 795 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 ttgtcacagataaacaagatg 0.378000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 5 2 0 0 1 0 0 CHGA 1113 broad.mit.edu 37 14 93399080 93399080 + Nonsense_Mutation SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr14:93399080C>T ENST00000216492.5 + 7 1454 c.1174C>T c.(1174-1176)Cga>Tga p.R392* CHGA_ENST00000334654.4_Nonsense_Mutation_p.R241* NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 392 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) GCAGCTGCGACGAGGCTGGAG 0.701000 6 10 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12133636 12133636 + Missense_Mutation SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr10:12133636C>T ENST00000263035.4 + 6 1174 c.1112C>T c.(1111-1113)aCc>aTc p.T371I DHTKD1_ENST00000465617.1_Intron NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 371 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CTGGGTTACACCACTCCAGCT 0.448000 5 91 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105967581 105967581 + Splice_Site SNP G G A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr10:105967581G>A ENST00000357060.3 - 6 852 c.735_splice c.e6-1 p.P246_splice WDR96_ENST00000278064.2_Splice_Site_p.P176_splice|WDR96_ENST00000369720.1_Splice_Site_p.P176_splice|WDR96_ENST00000428666.1_Splice_Site_p.P246_splice|WDR96_ENST00000369719.1_Splice_Site_p.P176_splice NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 246 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ATCATCTTTCGGCTTCAGGGA 0.398000 25 59 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219507893 219507893 + Nonsense_Mutation SNP C C A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr2:219507893C>A ENST00000411696.2 - 7 4125 c.3346G>T c.(3346-3348)Gaa>Taa p.E1116* ZNF142_ENST00000449707.1_Nonsense_Mutation_p.E1116* P52746 ZN142_HUMAN zinc finger protein 142 1116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGAGCCCGTTCCTGCTGGCAG 0.602000 5 67 0.000602214 0.000621034 1 1 0 FAM53B 9679 broad.mit.edu 37 10 126370270 126370270 + Missense_Mutation SNP C C G TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr10:126370270C>G ENST00000337318.3 - 4 1023 c.812G>C c.(811-813)tGt>tCt p.C271S FAM53B_ENST00000392754.3_Missense_Mutation_p.C271S|FAM53B_ENST00000280780.6_Missense_Mutation_p.C271S|RP11-12J10.3_ENST00000494792.1_3'UTR NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 271 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) GTTAAGGACACACGGCTGGGA 0.577000 3 7 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45867855 45867855 + Missense_Mutation SNP G G A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr20:45867855G>A ENST00000311275.7 - 15 2505 c.2252C>T c.(2251-2253)aCg>aTg p.T751M ZMYND8_ENST00000396281.4_Missense_Mutation_p.T751M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.T771M|ZMYND8_ENST00000355972.4_Missense_Mutation_p.T751M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.T746M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.T751M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.T746M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.T699M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.T778M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.T688M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.T771M|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000352431.2_Missense_Mutation_p.T771M|ZMYND8_ENST00000468376.2_5'UTR Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 751 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GCTGCCCACCGTCGTGGATGG 0.572000 5 170 0 0 1 0 0 JAG2 3714 broad.mit.edu 37 14 105618060 105618060 + Silent SNP G G A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr14:105618060G>A ENST00000331782.3 - 8 1459 c.1056C>T c.(1054-1056)acC>acT p.T352T JAG2_ENST00000347004.2_Silent_p.T352T NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 352 EGF-like 4. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) ACGGGTTGGAGGTGCAGGCGT 0.682000 3 34 0 0 1 0 0 SLC39A5 283375 broad.mit.edu 37 12 56628745 56628745 + Silent SNP T T A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr12:56628745T>A ENST00000266980.4 + 4 902 c.609T>A c.(607-609)ccT>ccA p.P203P SLC39A5_ENST00000454355.2_Silent_p.P203P NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 203 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTCCGGCCCCTGCACCCCCAG 0.627000 46 102 0 0 1 0 0 FAM120A 23196 broad.mit.edu 37 9 96320951 96320951 + Silent SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr9:96320951C>T ENST00000277165.6 + 15 2951 c.2757C>T c.(2755-2757)tgC>tgT p.C919C FAM120A_ENST00000340893.4_Intron|FAM120A_ENST00000333936.5_Silent_p.C947C NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 919 RNA binding. cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CGGGACACTGCGGAGCCTTCT 0.622000 17 41 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13711709 13711709 + Missense_Mutation SNP G G T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr6:13711709G>T ENST00000011619.3 - 1 87 c.29C>A c.(28-30)cCg>cAg p.P10Q NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ctgctgctgcggcggcggcgg 0.761000 3 12 1.024e-07 1.07276e-07 1 1 0 HLA-G 3135 broad.mit.edu 37 6 29797242 29797242 + Missense_Mutation SNP G G A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr6:29797242G>A ENST00000428701.1 + 5 845 c.667G>A c.(667-669)Gcc>Acc p.A223T HLA-G_ENST00000376818.3_Missense_Mutation_p.A131T|HLA-G_ENST00000376828.2_Missense_Mutation_p.A228T|HLA-G_ENST00000360323.6_Missense_Mutation_p.A223T|HLA-G_ENST00000376815.3_Intron NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 223 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 TGACTATGAGGCCACCCTGAG 0.582000 9 192 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 830799 830799 + Missense_Mutation SNP T T G TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr16:830799T>G ENST00000293892.3 - 3 201 c.202A>C c.(202-204)Acc>Ccc p.T68P MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 TGTGCACGGGTAGGTGACAGC 0.592000 6 173 0 0 1 0 0 CANT1 124583 broad.mit.edu 37 17 76993313 76993313 + Missense_Mutation SNP T T C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr17:76993313T>C ENST00000302345.2 - 2 886 c.392A>G c.(391-393)aAg>aGg p.K131R CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 131 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CAGGTAGCCCTTTTTCAGGTA 0.577000 T ETV4 prostate 4 370 0 0 1 0 0 TTC6 319089 broad.mit.edu 37 14 38296498 38296498 + Missense_Mutation SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr14:38296498C>T ENST00000553443.1 + 29 5225 c.5225C>T c.(5224-5226)aCt>aTt p.T1742I TTC6_ENST00000267368.7_Missense_Mutation_p.T376I|TTC6_ENST00000476979.1_Missense_Mutation_p.T376I|TTC6_ENST00000382320.3_Missense_Mutation_p.T456I tetratricopeptide repeat domain 6 central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) GATGCAATTACTCTAAACCCC 0.403000 68 103 0 0 1 0 0 EEF2K 29904 broad.mit.edu 37 16 22260091 22260091 + Silent SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr16:22260091C>T ENST00000263026.5 + 4 837 c.363C>T c.(361-363)acC>acT p.T121T NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 121 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) ACGCCGTCACCGGGGAATGGC 0.572000 10 89 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810766 7810766 + Missense_Mutation SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr19:7810766C>T ENST00000315599.7 - 4 408 c.386G>A c.(385-387)cGg>cAg p.R129Q CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGCCTTCAGCCGGGTCAGCTC 0.567000 3 165 0 0 1 0 0 MFN1 55669 broad.mit.edu 37 3 179085842 179085842 + Missense_Mutation SNP G G T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr3:179085842G>T ENST00000471841.1 + 9 1052 c.926G>T c.(925-927)gGa>gTa p.G309V MFN1_ENST00000263969.5_Missense_Mutation_p.G309V|MFN1_ENST00000280653.7_Missense_Mutation_p.G309V NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 309 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CTTGCTGAAGGATTTCATGCA 0.333000 3 51 0.014758 0.014985 1 1 0 TDP1 55775 broad.mit.edu 37 14 90442141 90442141 + Missense_Mutation SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr14:90442141C>T ENST00000335725.4 + 7 1023 c.773C>T c.(772-774)gCg>gTg p.A258V TDP1_ENST00000393454.2_Missense_Mutation_p.A258V|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000357382.3_Intron|TDP1_ENST00000393452.3_Missense_Mutation_p.A258V|TDP1_ENST00000555880.1_Missense_Mutation_p.A258V NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 258 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) TTGGATATTGCGTTTGGAACA 0.373000 Repair of DNA-protein crosslinks 35 72 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 50 0 0 1 0 0 NCK2 8440 broad.mit.edu 37 2 106497794 106497794 + Silent SNP G G A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr2:106497794G>A ENST00000233154.4 + 4 679 c.237G>A c.(235-237)aaG>aaA p.K79K NCK2_ENST00000393349.2_Silent_p.K79K|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 79 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 GCCTCGGCAAGACGCGCAGGA 0.672000 10 28 0 0 1 0 0 PADI4 23569 broad.mit.edu 37 1 17690079 17690079 + Silent SNP C C T rs143565531 TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr1:17690079C>T ENST00000375448.4 + 16 1847 c.1821C>T c.(1819-1821)aaC>aaT p.N607N NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 607 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CCGTCATCAACGGCCGCTGCT 0.612000 16 20 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121434123 121434123 + Silent SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr12:121434123C>T ENST00000257555.6 + 5 1240 c.1014C>T c.(1012-1014)ggC>ggT p.G338G HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000541395.1_Silent_p.G338G P20823 HNF1A_HUMAN HNF1 homeobox A 338 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAAGCAGCGGCGGTCCCTTAG 0.622000 Hepatic Adenoma, Familial Clustering of 18 171 0 0 1 0 0 LINC00478 0 broad.mit.edu 37 21 17443441 17443441 + RNA SNP T T C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr21:17443441T>C ENST00000458468.1 + 0 35 NR_027790.1 TAGATGGATCTGAGAACGCTG 0.463000 40 130 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220337707 220337707 + Missense_Mutation SNP G G A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr2:220337707G>A ENST00000312358.7 + 16 4168 c.4036G>A c.(4036-4038)Gcc>Acc p.A1346T SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1346 Fibronectin type-III 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGGGTGGGCAGCCACAGGGCT 0.662000 3 58 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72683335 72683335 + RNA SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr7:72683335C>T ENST00000425256.1 - 0 188 NR_002164.1 TGCACTACCACAGCCGACTGG 0.498000 46 101 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344590 53344590 + Missense_Mutation SNP C C G TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr19:53344590C>G ENST00000595646.1 - 4 1077 c.957G>C c.(955-957)agG>agC p.R319S ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000396409.4_Missense_Mutation_p.R266S|ZNF468_ENST00000390651.4_Missense_Mutation_p.R266S Q5VIY5 ZN468_HUMAN zinc finger protein 468 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) CAGTATGAATCCTCTTATGTC 0.373000 52 28 0 0 1 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959524 45959524 + Missense_Mutation SNP A A C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr21:45959524A>C ENST00000400375.1 - 1 554 c.510T>G c.(508-510)caT>caG p.H170Q TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 170 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 AGCAAGCTGGATGGCAGCTAG 0.622000 6 289 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 42 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61487640 61487640 + Missense_Mutation SNP G G A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr11:61487640G>A ENST00000257215.5 + 2 129 c.13G>A c.(13-15)Gtg>Atg p.V5M NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 5 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) GCCCGGGATCGTGGTGTTCCG 0.622000 3 84 0 0 1 0 0 CDK19 23097 broad.mit.edu 37 6 110944514 110944514 + Silent SNP A A T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr6:110944514A>T ENST00000368911.3 - 9 1091 c.912T>A c.(910-912)ccT>ccA p.P304P CDK19_ENST00000413605.2_Silent_p.P180P|CDK19_ENST00000323817.3_Silent_p.P244P NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 304 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 CTTTGCTGTCAGGCTTGACCT 0.458000 3 123 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696424 47696424 + Missense_Mutation SNP G G C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr17:47696424G>C ENST00000393331.3 - 7 869 c.399C>G c.(397-399)ttC>ttG p.F133L SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133L(7) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TGAATTTCTTGAATCCCCAGT 0.448000 Prostate(2;0.17) 54 91 0 0 1 0 0 AC019118.2 0 broad.mit.edu 37 2 2910378 2910379 + RNA INS - - C rs72051156 by1000genomes TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr2:2910378_2910379insC ENST00000457478.1 - 0 594 ACAGCCGCCCACCCTACACCTT 0.639 2 4 --- --- --- --- GBA3 57733 broad.mit.edu 37 4 22729298 22729299 + RNA INS - - T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr4:22729298_22729299insT ENST00000503442.1 + 0 149 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TTTCTTTCACATTTTCAAATGA 0.421 58 119 --- --- --- ---