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 COL9A1 1297 broad.mit.edu 37 6 70964216 70964216 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:70964216G>C ENST00000357250.6 - 25 1840 c.1682C>G c.(1681-1683)cCt>cGt p.P561R COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.P318R|COL9A1_ENST00000320755.7_Missense_Mutation_p.P318R NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 561 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 AGGAGGCCCAGGTTTTCCTGG 0.373000 13 52 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203024736 203024736 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:203024736C>G ENST00000367240.2 + 15 2470 c.1943C>G c.(1942-1944)tCc>tGc p.S648C PPFIA4_ENST00000272198.6_Missense_Mutation_p.S163C|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S163C|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S647C|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S376C|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S163C O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 163 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 AGCGGCCGCTCCACACCTAAG 0.657000 16 31 0 0 1 0 0 CCDC173 129881 broad.mit.edu 37 2 170502583 170502583 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:170502583C>G ENST00000447353.1 - 9 1532 c.1427G>C c.(1426-1428)aGa>aCa p.R476T NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 AATTACCTCTCTGGCATAGTC 0.393000 56 155 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40400285 40400285 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:40400285C>T ENST00000338305.6 - 2 1110 c.568G>A c.(568-570)Gag>Aag p.E190K NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 190 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AAGGTGCCCTCGGCGATGTGA 0.627000 9 66 0 0 1 0 0 HLA-E 3133 broad.mit.edu 37 6 30458998 30458998 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:30458998C>T ENST00000376630.4 + 4 760 c.695C>T c.(694-696)gCg>gTg p.A232V NM_005516.5 NP_005507.3 P13747 HLAE_HUMAN major histocompatibility complex, class I, E 232 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|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 breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1) 18 TTCTACCCTGCGGAGATCACA 0.627000 28 70 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12904485 12904485 + Silent SNP T T C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:12904485T>C ENST00000380659.3 + 3 997 c.858T>C c.(856-858)ttT>ttC p.F286F NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 286 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TAAATGCTTTTGATGCGCTGA 0.423000 37 66 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117185765 117185765 + Silent SNP C C T rs141807746 byFrequency TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr9:117185765C>T ENST00000362057.3 - 7 1623 c.1455G>A c.(1453-1455)ccG>ccA p.P485P DFNB31_ENST00000265134.6_Silent_p.P102P|DFNB31_ENST00000374059.3_Silent_p.P134P NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 485 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CTAGGTCTTGCGGGGAAATGG 0.632000 3 38 0 0 1 0 0 GRASP 160622 broad.mit.edu 37 12 52408966 52408966 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr12:52408966G>A ENST00000293662.4 + 8 1251 c.1171G>A c.(1171-1173)Gag>Aag p.E391K GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000380039.2_Missense_Mutation_p.E248K|GRASP_ENST00000552049.1_Missense_Mutation_p.E248K NM_181711.2 NP_859062.1 Q7Z6J2 GRASP_HUMAN GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein 391 cell junction|perinuclear region of cytoplasm|postsynaptic membrane central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2) 5 BRCA - Breast invasive adenocarcinoma(357;0.0967) CCTGGAGGAGGAGGAGAGCCA 0.637000 3 13 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164766974 164766974 + Missense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr3:164766974C>A ENST00000264382.3 - 15 1718 c.1656G>T c.(1654-1656)tgG>tgT p.W552C NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 552 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.W552C(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACTGTTTACCCCAGTTCTGCA 0.338000 HNSCC(35;0.089) 12 56 0.00136819 0.0013874 1 1 0 HERC2P3 283755 broad.mit.edu 37 15 20657767 20657767 + RNA SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr15:20657767G>A ENST00000428453.1 - 0 2191 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GCTCGGTCCCGATGGGTTCTC 0.537000 27 20 0 0 1 0 0 AARS 16 broad.mit.edu 37 16 70301614 70301614 + Silent SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr16:70301614A>G ENST00000261772.8 - 9 1313 c.1170T>C c.(1168-1170)cgT>cgC p.R390R NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 390 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) CCAGGATGCGACGCCCTCTGC 0.502000 OREG0023913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 27 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478195 42478195 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:42478195C>G ENST00000434000.1 - 9 1298 c.1016G>C c.(1015-1017)aGt>aCt p.S339T GPATCH8_ENST00000591680.1_Missense_Mutation_p.S417T Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 417 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CATTTGTTCACTGGCTCTCAT 0.463000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 107 0 0 1 0 0 AGAP5 729092 broad.mit.edu 37 10 75435087 75435087 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr10:75435087G>A ENST00000443782.2 - 7 1387 c.1262C>T c.(1261-1263)gCc>gTc p.A421V RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.A444V A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 444 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1) 12 CTGCAGGCTGGCCAGGATCTG 0.577000 35 59 0 0 1 0 0 SGSM2 9905 broad.mit.edu 37 17 2265479 2265479 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:2265479C>T ENST00000268989.3 + 4 550 c.373C>T c.(373-375)Cag>Tag p.Q125* SGSM2_ENST00000426855.2_Nonsense_Mutation_p.Q125*|SGSM2_ENST00000574563.1_Nonsense_Mutation_p.Q125* NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 125 RUN. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) CCTCAGCCCTCAGGCCTTGAA 0.647000 6 44 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185012345 185012345 + Silent SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:185012345G>C ENST00000296741.2 - 8 1449 c.1308C>G c.(1306-1308)ctC>ctG p.L436L NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 436 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) CAAGCAGGAAGAGAAGAATCA 0.512000 5 65 0 0 1 0 0 ZNF595 152687 broad.mit.edu 37 4 59429 59429 + Missense_Mutation SNP A A T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:59429A>T ENST00000509152.2 + 2 295 c.110A>T c.(109-111)tAc>tTc p.Y37F ZNF595_ENST00000526473.2_Missense_Mutation_p.Y37F|ZNF595_ENST00000339368.6_3'UTR zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) TTGGAGAACTACAGGAACCTG 0.438000 23 569 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214546153 214546153 + Silent SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:214546153G>A ENST00000366956.5 - 16 3131 c.2937C>T c.(2935-2937)taC>taT p.Y979Y PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 979 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GGGTGGCTATGTAGTGCCATT 0.547000 11 52 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185834930 185834930 + Missense_Mutation SNP T T A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:185834930T>A ENST00000271588.4 + 4 785 c.556T>A c.(556-558)Tat>Aat p.Y186N HMCN1_ENST00000367492.2_Missense_Mutation_p.Y186N NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 186 VWFA. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATATAAAGTCTATGAAGAAAT 0.348000 29 110 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1482091 1482091 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:1482091C>G ENST00000297508.7 - 7 1623 c.1448G>C c.(1447-1449)aGt>aCt p.S483T MICALL2_ENST00000405088.4_Missense_Mutation_p.S271T NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 483 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GGGCTGAGAACTGGGAACAGC 0.622000 21 102 0 0 1 0 0 LCORL 254251 broad.mit.edu 37 4 17887745 17887745 + Missense_Mutation SNP A A C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:17887745A>C ENST00000326877.4 - 6 846 c.722T>G c.(721-723)aTa>aGa p.I241R LCORL_ENST00000382224.1_Missense_Mutation_p.I157R|LCORL_ENST00000539056.1_Intron|LCORL_ENST00000382226.5_Missense_Mutation_p.I241R NM_153686.7 NP_710153.2 Q8N3X6 LCORL_HUMAN ligand dependent nuclear receptor corepressor-like regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 TTCAGATTTTATGCTGGTTTT 0.299000 16 67 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48173150 48173150 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr16:48173150G>A ENST00000311303.3 - 5 1100 c.755C>T c.(754-756)gCg>gTg p.A252V ABCC12_ENST00000416054.1_Missense_Mutation_p.A252V|ABCC12_ENST00000448542.1_Missense_Mutation_p.A252V NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 252 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GGCGTACGCCGCACAAAAGAC 0.483000 3 49 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215809796 215809796 + Silent SNP C C T rs150309991 TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:215809796C>T ENST00000272895.7 - 49 7491 c.7272G>A c.(7270-7272)tcG>tcA p.S2424S ABCA12_ENST00000389661.4_Silent_p.S2106S|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2424 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.S2424S(1) NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GGTGCCGTTTCGACTTCGGAT 0.363000 15 13 0 0 1 0 0 AXIN2 8313 broad.mit.edu 37 17 63554240 63554240 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:63554240C>G ENST00000307078.5 - 2 812 c.499G>C c.(499-501)Gat>Cat p.D167H AXIN2_ENST00000375702.5_Missense_Mutation_p.D167H|CTD-2535L24.2_ENST00000577662.1_3'UTR NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 167 RGS. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 ATGATGGAATCAATCTGCTGC 0.448000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 37 31 0 0 1 0 0 B3GNT2 10678 broad.mit.edu 37 2 62449954 62449954 + Missense_Mutation SNP T T C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:62449954T>C ENST00000301998.4 + 2 851 c.599T>C c.(598-600)tTt>tCt p.F200S B3GNT2_ENST00000405767.1_Missense_Mutation_p.F200S NM_006577.5 NP_006568.2 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 200 Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1) 18 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) ATGCTGAAATTTGAGAGTGAG 0.493000 16 55 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280593 152280593 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:152280593C>G ENST00000368799.1 - 3 6804 c.6769G>C c.(6769-6771)Gag>Cag p.E2257Q FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2257 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCGCCTCTCAGAATCTTCT 0.587000 Ichthyosis 68 243 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151860219 151860219 + Silent SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:151860219C>T ENST00000355193.2 - 43 10661 c.10443G>A c.(10441-10443)caG>caA p.Q3481Q KMT2C_ENST00000262189.6_Silent_p.Q3481Q lysine (K)-specific methyltransferase 2C GCTGTAAAACCTGCCCCATTT 0.468000 36 80 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238280860 238280860 + Missense_Mutation SNP T T C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:238280860T>C ENST00000295550.4 - 9 4252 c.3800A>G c.(3799-3801)gAc>gGc p.D1267G COL6A3_ENST00000409809.1_Missense_Mutation_p.D1061G|COL6A3_ENST00000392004.3_Missense_Mutation_p.D1061G|COL6A3_ENST00000472056.1_Missense_Mutation_p.D660G|COL6A3_ENST00000392003.2_Missense_Mutation_p.D860G|COL6A3_ENST00000347401.3_Missense_Mutation_p.D1066G|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1061G|COL6A3_ENST00000346358.4_Missense_Mutation_p.D1067G NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1267 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCGGGTGGTGTCAAAGCCCAC 0.582000 7 12 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136594323 136594323 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:136594323G>A ENST00000531224.1 - 7 2107 c.1855C>T c.(1855-1857)Caa>Taa p.Q619* BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.Q446*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.Q619*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.Q617*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.Q617*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.Q617* NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 619 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTGAAGTATTGCTCTGTTGAT 0.388000 36 132 0 0 1 0 0 AKT1 207 broad.mit.edu 37 14 105239648 105239648 + Silent SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr14:105239648C>G ENST00000554581.1 - 9 2377 c.897G>C c.(895-897)ggG>ggC p.G299G AKT1_ENST00000554192.1_Silent_p.G19G|AKT1_ENST00000544168.1_Silent_p.G237G|AKT1_ENST00000554848.1_Silent_p.G299G|AKT1_ENST00000407796.2_Silent_p.G299G|AKT1_ENST00000555528.1_Silent_p.G299G|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000555458.1_5'UTR|AKT1_ENST00000349310.3_Silent_p.G299G|AKT1_ENST00000402615.2_Silent_p.G299G P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 299 Protein kinase. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) CGTCCTTGATCCCCTCCTTGC 0.617000 1 Mis """breast, colorectal, ovarian, NSCLC""" 8 10 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586216 20586216 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr14:20586216G>C ENST00000315543.4 + 1 651 c.651G>C c.(649-651)aaG>aaC p.K217N NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TGGTTACTAAGCTTGCCTGTA 0.418000 72 99 0 0 1 0 0 KLHL34 257240 broad.mit.edu 37 X 21674383 21674383 + Silent SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:21674383C>T ENST00000379499.2 - 1 2065 c.1524G>A c.(1522-1524)aaG>aaA p.K508K NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 508 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 TGGGTGCCTTCTTGCTCCAAA 0.632000 3 5 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76246939 76246939 + Splice_Site SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr11:76246939A>G ENST00000529032.1 + 14 2195 c.2195A>G c.(2194-2196)gAt>gGt p.D732G C11orf30_ENST00000525919.1_Splice_Site_p.D733G|C11orf30_ENST00000524767.1_Splice_Site_p.D747G|C11orf30_ENST00000343878.3_Splice_Site_p.D732G|C11orf30_ENST00000334736.3_Splice_Site_p.D732G|C11orf30_ENST00000524490.1_Splice_Site_p.D648G|C11orf30_ENST00000525038.1_Splice_Site_p.D747G|C11orf30_ENST00000533248.1_Intron Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 732 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 TATAAAACAGATTCCCAGCCT 0.323000 5 19 0 0 1 0 0 OXCT1 5019 broad.mit.edu 37 5 41794171 41794171 + Silent SNP G G C rs142593804 byFrequency TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr5:41794171G>C ENST00000196371.5 - 13 1342 c.1182C>G c.(1180-1182)gtC>gtG p.V394V OXCT1_ENST00000510634.1_5'UTR|OXCT1_ENST00000512084.1_5'UTR|OXCT1_ENST00000509987.1_Silent_p.V208V|OXCT1_ENST00000513081.1_5'UTR NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 394 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) TTGTCAGATCGACGTGTCCAC 0.398000 6 143 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47030517 47030517 + Silent SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:47030517C>A ENST00000377604.3 + 4 1034 c.292C>A c.(292-294)Cga>Aga p.R98R RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 98 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 AGGCTTCCCCCGAGACGGCGA 0.682000 7 12 5.18039e-06 5.40481e-06 1 1 0 SMCHD1 23347 broad.mit.edu 37 18 2743850 2743850 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr18:2743850C>G ENST00000320876.6 + 29 4063 c.3725C>G c.(3724-3726)tCt>tGt p.S1242C RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1242C NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1242 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 CGTGAGTTTTCTGACTTTATT 0.408000 6 24 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143806804 143806804 + Silent SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:143806804C>A ENST00000408979.2 + 1 198 c.129C>A c.(127-129)gtC>gtA p.V43V NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GGAATGGGGTCATCTTTGGGA 0.507000 47 71 1.83081e-24 2.08308e-24 1 1 0 PEG3 5178 broad.mit.edu 37 19 57325246 57325246 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:57325246C>A ENST00000326441.9 - 10 4927 c.4564G>T c.(4564-4566)Gaa>Taa p.E1522* PEG3_ENST00000598410.1_Nonsense_Mutation_p.E1398*|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.E1522*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.E1396*|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1522 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTCAGGTGTTCACTGAATGCT 0.483000 19 52 3.99206e-14 4.38671e-14 1 1 0 ACP2 53 broad.mit.edu 37 11 47266901 47266901 + Silent SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr11:47266901C>T ENST00000256997.3 - 6 710 c.594G>A c.(592-594)ctG>ctA p.L198L ACP2_ENST00000533929.1_Silent_p.L170L|ACP2_ENST00000529444.1_Intron|ACP2_ENST00000530453.1_Intron|ACP2_ENST00000527256.1_Silent_p.L166L|ACP2_ENST00000537863.1_Silent_p.L11L NM_001610.2 NP_001601.1 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal 198 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 TCTCCAGTGTCAGGTCTGTAA 0.527000 27 50 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63057902 63057902 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr11:63057902C>T ENST00000332793.6 + 1 267 c.265C>T c.(265-267)Cgt>Tgt p.R89C SLC22A10_ENST00000526800.1_Missense_Mutation_p.R37C|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_5'UTR NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 89 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGAGAAGTGTCGTCGCTTTGT 0.488000 31 32 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 120008050 120008050 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr11:120008050C>G ENST00000341846.5 - 1 1111 c.690G>C c.(688-690)aaG>aaC p.K230N NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 230 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GCTCCATCGTCTTGCCATGCA 0.607000 3 25 0 0 1 0 0 ZNF34 80778 broad.mit.edu 37 8 145999978 145999978 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr8:145999978C>T ENST00000429371.2 - 6 446 c.293G>A c.(292-294)aGa>aAa p.R98K ZNF34_ENST00000343459.4_Missense_Mutation_p.R119K NM_030580.3 NP_085057.3 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 119 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) GTACTCAGTTCTGGTCCCAAG 0.507000 30 117 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580724 140580724 + Silent SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr5:140580724C>T ENST00000354757.3 + 1 1377 c.1377C>T c.(1375-1377)ttC>ttT p.F459F PCDHB11_ENST00000536699.1_Silent_p.F94F NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 459 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCTGTTCGTCCGCGAGA 0.587000 46 91 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50200673 50200673 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:50200673G>C ENST00000392518.4 + 4 604 c.232G>C c.(232-234)Gat>Cat p.D78H CPT1C_ENST00000405931.2_Missense_Mutation_p.D78H|CPT1C_ENST00000323446.5_Missense_Mutation_p.D78H|CPT1C_ENST00000598293.1_Missense_Mutation_p.D78H|CPT1C_ENST00000354199.5_Missense_Mutation_p.D78H NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 78 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CCTCCAGCTGGATCCTTCCTT 0.562000 18 46 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188245282 188245282 + Missense_Mutation SNP T T G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:188245282T>G ENST00000409998.1 - 8 1101 c.320A>C c.(319-321)cAa>cCa p.Q107P CALCRL_ENST00000410068.1_Missense_Mutation_p.Q107P|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.Q107P|AC007319.1_ENST00000412276.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 107 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GTTTCCATCTTGGTCACAGAT 0.323000 45 59 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142627456 142627456 + Missense_Mutation SNP C C T rs140202697 TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:142627456C>T ENST00000265310.1 - 2 562 c.214G>A c.(214-216)Gtt>Att p.V72I TRPV5_ENST00000442623.1_Missense_Mutation_p.V72I NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 72 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CTTTGTCGAACGTCACAGGTG 0.502000 25 44 0 0 1 0 0 VPS9D1 9605 broad.mit.edu 37 16 89774289 89774289 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr16:89774289G>A ENST00000561976.1 - 14 2043 c.1666C>T c.(1666-1668)Cgg>Tgg p.R556W VPS9D1_ENST00000389386.3_Missense_Mutation_p.R626W VPS9 domain containing 1 AGGCCTCCCCGGGGCAGCAGC 0.657000 16 26 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7574021 7574021 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:7574021C>A ENST00000269305.4 - 10 1195 c.1006G>T c.(1006-1008)Gag>Tag p.E336* TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E336*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 336 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCGAAGCGCTCACGCCCACGG 0.517000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 5 0.000958276 0.000975147 1 1 0 GRIP1 23426 broad.mit.edu 37 12 66935686 66935686 + Missense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr12:66935686C>A ENST00000359742.4 - 3 421 c.181G>T c.(181-183)Ggc>Tgc p.G61C GRIP1_ENST00000286445.7_Missense_Mutation_p.G61C|GRIP1_ENST00000398016.3_Missense_Mutation_p.G61C Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 61 PDZ 1. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) AGGGTAGTGCCTTCCTTCTTC 0.458000 35 139 1.49673e-21 1.6831e-21 1 1 0 IGKV1-6 28943 broad.mit.edu 37 2 89265952 89265952 + RNA SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:89265952C>T ENST00000464162.1 - 0 208 TCCCTGGTTTCTGCTGATACC 0.517000 63 152 0 0 1 0 0 LPIN2 9663 broad.mit.edu 37 18 2928621 2928621 + Missense_Mutation SNP T T A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr18:2928621T>A ENST00000261596.4 - 11 1826 c.1588A>T c.(1588-1590)Agc>Tgc p.S530C NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 530 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) ACTTGCAAGCTAAGGATCATG 0.463000 10 28 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43958673 43958673 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:43958673G>C ENST00000282406.4 + 19 2985 c.2875G>C c.(2875-2877)Gga>Cga p.G959R NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 959 MyTH4. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CAGTAAAGAAGGAATCATTTC 0.353000 16 75 0 0 1 0 0 ST5 6764 broad.mit.edu 37 11 8739391 8739391 + Missense_Mutation SNP C C T rs147807666 TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr11:8739391C>T ENST00000534127.1 - 8 1911 c.1526G>A c.(1525-1527)cGa>cAa p.R509Q ST5_ENST00000526757.1_Missense_Mutation_p.R89Q|ST5_ENST00000357665.1_Missense_Mutation_p.R509Q|ST5_ENST00000313726.6_Missense_Mutation_p.R509Q|ST5_ENST00000530438.1_Missense_Mutation_p.R89Q|ST5_ENST00000526099.1_Missense_Mutation_p.R22Q|ST5_ENST00000530991.1_5'UTR NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 509 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TCCTGCTCTTCGGCTCTTTAA 0.517000 9 26 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23156440 23156440 + Silent SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr8:23156440G>A ENST00000389131.3 - 13 2523 c.2154C>T c.(2152-2154)ttC>ttT p.F718F NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 718 Lysyl-oxidase like. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity p.F718F(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) CTGCAACCTCGAAGTTGGGGT 0.557000 32 43 0 0 1 0 0 SNX16 64089 broad.mit.edu 37 8 82751898 82751898 + Silent SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr8:82751898A>G ENST00000396330.2 - 3 830 c.324T>C c.(322-324)tcT>tcC p.S108S SNX16_ENST00000353788.4_Silent_p.S108S|SNX16_ENST00000345957.4_Silent_p.S108S NM_022133.3 NP_071416.2 P57768 SNX16_HUMAN sorting nexin 16 108 PX. cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding large_intestine(1)|ovary(1)|pancreas(1)|skin(2) 5 TAGTAGGTGTAGATGGTCTAT 0.368000 26 102 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228157946 228157946 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:228157946G>A ENST00000396578.3 + 38 3412 c.3250G>A c.(3250-3252)Gaa>Aaa p.E1084K AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1084 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AAAGAAAGGAGAAATGGGGCA 0.507000 10 25 0 0 1 0 0 TFG 10342 broad.mit.edu 37 3 100432568 100432568 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr3:100432568C>G ENST00000240851.4 + 2 379 c.39C>G c.(37-39)atC>atG p.I13M TFG_ENST00000476228.1_Missense_Mutation_p.I13M|TFG_ENST00000418917.2_Missense_Mutation_p.I13M|TFG_ENST00000490574.1_Missense_Mutation_p.I13M NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene 13 I -> V (in Ref. 1; CAA69264 and 8; CAA59936). positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 AGCTAATCATCAAAGCTCAAC 0.378000 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 7 183 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153225380 153225380 + Silent SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:153225380C>A ENST00000310441.7 - 8 2283 c.1317G>T c.(1315-1317)ccG>ccT p.P439P HCFC1_ENST00000354233.3_Intron|HCFC1_ENST00000369984.4_Silent_p.P439P NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 439 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTTGGGTCAGCGGCTGCACAG 0.667000 13 35 4.36969e-10 4.67719e-10 1 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18721562 18721562 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr9:18721562G>C ENST00000380548.4 + 15 2244 c.1905G>C c.(1903-1905)ttG>ttC p.L635F ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L635F NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 635 TSP type-1 5. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TGAGCTGCTTGAACAAACAGA 0.582000 8 170 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35984768 35984768 + Missense_Mutation SNP A A T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:35984768A>T ENST00000297866.5 + 9 1563 c.1497A>T c.(1495-1497)gaA>gaT p.E499D NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 499 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TGGCAGAAGAAGATTTGCAAT 0.348000 3 59 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25236370 25236370 + Silent SNP T T C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr12:25236370T>C ENST00000354454.3 + 9 1087 c.258T>C c.(256-258)gcT>gcC p.A86A LRMP_ENST00000547044.1_Silent_p.A86A|LRMP_ENST00000548766.1_Silent_p.A86A NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 142 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) CAAGTCCAGCTCATGATAATA 0.423000 6 56 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1016687 1016687 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr11:1016687G>C ENST00000421673.2 - 31 6164 c.6114C>G c.(6112-6114)atC>atG p.I2038M NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 2038 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCGTTGAGTGGATGGAGGCAG 0.567000 9 268 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924059 188924059 + Missense_Mutation SNP G G T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:188924059G>T ENST00000326866.4 + 4 506 c.98G>T c.(97-99)aGc>aTc p.S33I ZFP42_ENST00000509524.1_Missense_Mutation_p.S33I NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 33 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GGCAAGTCAAGCCAAGACCTG 0.577000 17 34 2.48551e-13 2.72087e-13 1 1 0 MMD 23531 broad.mit.edu 37 17 53491515 53491515 + Silent SNP G G A rs143668131 TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:53491515G>A ENST00000262065.3 - 2 401 c.105C>T c.(103-105)caC>caT p.H35H NM_012329.2 NP_036461.2 Q15546 PAQRB_HUMAN monocyte to macrophage differentiation-associated 35 cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 TACTCACTGCGTGTGTGTAAC 0.463000 20 62 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75866132 75866132 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:75866132G>A ENST00000322507.8 - 15 3400 c.3091C>T c.(3091-3093)Cgc>Tgc p.R1031C COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1031C|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1031C NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1031 Fibronectin type-III 7. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCATGAGGGCGATAGACAACA 0.473000 17 50 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32346562 32346562 + Silent SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr20:32346562C>T ENST00000375200.1 + 7 1343 c.978C>T c.(976-978)taC>taT p.Y326Y ZNF341_ENST00000342427.2_Silent_p.Y319Y NM_001282933.1 NP_001269862.1 Q9BYN7 ZN341_HUMAN zinc finger protein 341 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 AGTGCTCATACTGTGACAAGT 0.562000 28 82 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159573102 159573102 + Missense_Mutation SNP G G T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:159573102G>T ENST00000307765.5 + 18 2420 c.2169G>T c.(2167-2169)tgG>tgT p.W723C RXFP1_ENST00000448688.2_Missense_Mutation_p.W618C|RXFP1_ENST00000343542.5_Missense_Mutation_p.W675C|RXFP1_ENST00000470033.1_Missense_Mutation_p.W690C|RXFP1_ENST00000460056.2_Missense_Mutation_p.W642C NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 723 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TGGAAATGTGGCCACTGCAGG 0.413000 77 14 5.82419e-33 6.65293e-33 1 1 0 APOB 338 broad.mit.edu 37 2 21229722 21229722 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:21229722C>G ENST00000233242.1 - 26 10145 c.10018G>C c.(10018-10020)Gat>Cat p.D3340H NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 3340 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AAGGAGAAATCATAGGTAATA 0.368000 19 96 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56392509 56392509 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:56392509C>G ENST00000370754.5 - 68 17610 c.17611G>C c.(17611-17613)Gat>Cat p.D5871H DST_ENST00000370788.2_Missense_Mutation_p.D3496H|DST_ENST00000361203.3_Missense_Mutation_p.D5582H|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.D3279H|DST_ENST00000446842.2_Missense_Mutation_p.D5367H|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.D3605H|DST_ENST00000370769.4_Missense_Mutation_p.D5693H Q03001 DYST_HUMAN dystonin 5691 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCCAATTTATCTTGAATTATT 0.393000 11 22 0 0 1 0 0 TIMP1 7076 broad.mit.edu 37 X 47442865 47442865 + Silent SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:47442865G>C ENST00000456754.2 + 2 126 c.51G>C c.(49-51)ctG>ctC p.L17L TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377018.2_5'UTR|SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000218388.4_Silent_p.L17L P01033 TIMP1_HUMAN TIMP metallopeptidase inhibitor 1 17 erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation platelet alpha granule lumen metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(1)|large_intestine(2) 3 TGCTGTGGCTGATAGCCCCCA 0.652000 14 22 0 0 1 0 0 MPP3 4356 broad.mit.edu 37 17 41907061 41907061 + Silent SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:41907061C>G ENST00000398393.1 - 5 737 c.477G>C c.(475-477)tcG>tcC p.S159S MPP3_ENST00000398389.4_Silent_p.S134S Q13368 MPP3_HUMAN membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 134 PDZ. signal transduction cell surface|integral to plasma membrane guanylate kinase activity endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) CGATCTTCACCGATTCCTCAT 0.557000 9 32 0 0 1 0 0 U2AF1 7307 broad.mit.edu 37 21 44520596 44520596 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr21:44520596G>C ENST00000291552.4 - 3 258 c.166C>G c.(166-168)Caa>Gaa p.Q56E U2AF1_ENST00000486519.1_Intron|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Intron NM_006758.2 NP_006749.1 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 56 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 GAAGAGTTTTGAGGGTTACGG 0.458000 Mis """CLL, MDS""" 17 28 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990550 63990550 + Silent SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:63990550G>A ENST00000370657.4 - 4 939 c.906C>T c.(904-906)ttC>ttT p.F302F LGSN_ENST00000370658.5_Intron Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 302 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TCTCAATGAAGAAGCTGGCAA 0.418000 17 49 0 0 1 0 0 LOC101927648 101927648 broad.mit.edu 37 1 143403554 143403554 + RNA SNP T T G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:143403554T>G ENST00000423249.1 - 0 59 GGAACAGGATTTCTTTGGCCA 0.468000 3 10 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133884047 133884047 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:133884047G>A ENST00000285928.2 + 14 1690 c.1621G>A c.(1621-1623)Gag>Aag p.E541K NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 541 Guanylate kinase-like. ATP binding|kinase activity p.E541K(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 GGAAAAATATGAGGGATATTT 0.363000 49 110 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119434462 119434462 + Nonsense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr3:119434462C>G ENST00000273390.5 + 6 631 c.554C>G c.(553-555)tCa>tGa p.S185* MAATS1_ENST00000463700.1_Nonsense_Mutation_p.S185* NM_033364.3 NP_203528 MYCBP-associated, testis expressed 1 TCCATCCCTTCAAAGTCTACT 0.413000 59 171 0 0 1 0 0 TUSC1 286319 broad.mit.edu 37 9 25677755 25677755 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr9:25677755C>T ENST00000358022.3 - 1 1101 c.565G>A c.(565-567)Gag>Aag p.E189K NM_001004125.2 NP_001004125.1 Q2TAM9 TUSC1_HUMAN tumor suppressor candidate 1 189 kidney(1) 1 all_hematologic(1;0.197) all_neural(3;5.42e-18)|Glioma(3;5.54e-17) GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11) GGCTGCTCCTCCTTGTCCCCG 0.716000 3 1 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1409376 1409376 + Missense_Mutation SNP A A T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:1409376A>T ENST00000381524.3 + 7 806 c.620A>T c.(619-621)gAt>gTt p.D207V CSF2RA_ENST00000355805.2_Missense_Mutation_p.D207V|CSF2RA_ENST00000381529.3_Missense_Mutation_p.D207V|CSF2RA_ENST00000381500.1_Missense_Mutation_p.D207V|CSF2RA_ENST00000381509.3_Missense_Mutation_p.D207V|CSF2RA_ENST00000361536.3_Missense_Mutation_p.D207V|CSF2RA_ENST00000417535.2_Missense_Mutation_p.D207V|CSF2RA_ENST00000432318.2_Missense_Mutation_p.D207V|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.D74V|CSF2RA_ENST00000355432.3_Missense_Mutation_p.D207V P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 207 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CAATTCTTTGATTCACTTTTG 0.383000 112 189 0 0 1 0 0 SHKBP1 92799 broad.mit.edu 37 19 41083150 41083150 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:41083150C>G ENST00000291842.5 + 2 149 c.100C>G c.(100-102)Cgc>Ggc p.R34G SHKBP1_ENST00000600733.1_Missense_Mutation_p.R34G NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 34 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity p.R34S(1) breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAGTACCTCTCGCCAGACTCT 0.617000 16 56 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52325719 52325719 + Missense_Mutation SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr8:52325719A>G ENST00000356297.4 - 15 1995 c.1895T>C c.(1894-1896)tTg>tCg p.L632S PXDNL_ENST00000543296.1_Missense_Mutation_p.L632S NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 632 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTGTGAAAACAAATGTCTTCG 0.353000 7 34 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22840333 22840333 + Silent SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr15:22840333A>G ENST00000283645.4 + 4 529 c.399A>G c.(397-399)aaA>aaG p.K133K TUBGCP5_ENST00000453949.2_Silent_p.K133K NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 133 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CAAGAAATAAAGAAGTGGGTA 0.333000 156 127 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57169898 57169898 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:57169898C>G ENST00000371244.4 + 7 1109 c.1043C>G c.(1042-1044)tCt>tGt p.S348C NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 348 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 AGTCCTCCATCTGGTTCTTTT 0.478000 19 36 0 0 1 0 0 CYP2D6 1565 broad.mit.edu 37 22 42524798 42524798 + Silent SNP G G T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr22:42524798G>T ENST00000360608.5 - 4 768 c.654C>A c.(652-654)ggC>ggA p.G218G NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.G218G|CYP2D6_ENST00000359033.4_Silent_p.G167G NM_000106.5 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 218 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CGCGCAGAAAGCCCGACTCCT 0.667000 10 1 5.16669e-11 5.55083e-11 1 1 0 IRS4 8471 broad.mit.edu 37 X 107978337 107978337 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:107978337C>G ENST00000372129.2 - 1 1314 c.1238G>C c.(1237-1239)aGa>aCa p.R413T NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 413 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CAGGTGCAGTCTTCCTCGCCT 0.642000 19 22 0 0 1 0 0 OR6C3 254786 broad.mit.edu 37 12 55725743 55725743 + Nonsense_Mutation SNP A A T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr12:55725743A>T ENST00000379667.1 + 1 259 c.259A>T c.(259-261)Aag>Tag p.K87* NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 CACCAGGAATAAGACTATTTC 0.403000 22 60 0 0 1 0 0 ZNF551 90233 broad.mit.edu 37 19 58199365 58199365 + Silent SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:58199365C>G ENST00000282296.5 + 3 1907 c.1722C>G c.(1720-1722)ctC>ctG p.L574L ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Silent_p.L558L|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron Q7Z340 ZN551_HUMAN zinc finger protein 551 574 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GTGCTAGCCTCATTCAACACC 0.468000 31 65 0 0 1 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26124046 26124046 + Silent SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:26124046C>T ENST00000314332.5 - 1 92 c.87G>A c.(85-87)aaG>aaA p.K29K HIST1H2BC_ENST00000396984.1_Silent_p.K29K P62807 H2B1C_HUMAN histone cluster 1, H2bc 29 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16 TGCGCTTGCGCTTCTTGCCAT 0.552000 31 115 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47886602 47886602 + Silent SNP T T C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:47886602T>C ENST00000289672.2 - 32 5078 c.5028A>G c.(5026-5028)ttA>ttG p.L1676L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1676 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CTGCCTTAGCTAAATATCTGT 0.393000 11 32 0 0 1 0 0 EXOSC6 118460 broad.mit.edu 37 16 70284999 70284999 + Missense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr16:70284999C>A ENST00000435634.1 - 1 834 c.805G>T c.(805-807)Gcc>Tcc p.A269S NM_058219.2 NP_478126.1 Q5RKV6 EXOS6_HUMAN exosome component 6 269 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing cytosol|exosome (RNase complex)|nucleolus RNA binding GGCTgggcggcggcgcccctg 0.726000 7 7 0.00198382 0.00200463 1 1 0 ENOX2 10495 broad.mit.edu 37 X 129801557 129801557 + Missense_Mutation SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:129801557A>G ENST00000338144.3 - 9 1358 c.941T>C c.(940-942)aTg>aCg p.M314T ENOX2_ENST00000394363.1_Missense_Mutation_p.M285T|ENOX2_ENST00000370935.1_Missense_Mutation_p.M285T|ENOX2_ENST00000370927.1_Missense_Mutation_p.M314T NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 314 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 TGCTTCTTCCATATCTTTCTC 0.483000 97 148 0 0 1 0 0 C17orf53 78995 broad.mit.edu 37 17 42230048 42230048 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:42230048G>A ENST00000319977.4 + 5 1589 c.1352G>A c.(1351-1353)cGa>cAa p.R451Q C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Missense_Mutation_p.R451Q NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 451 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) GATTTTGGGCGAGGGCCCTGG 0.542000 16 49 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117758546 117758546 + Silent SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:117758546A>G ENST00000276204.6 + 32 3590 c.3516A>G c.(3514-3516)ggA>ggG p.G1172G DOCK11_ENST00000276202.7_Silent_p.G1172G Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1172 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CCTTTGTTGGACTACTTTTGG 0.333000 57 142 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6182806 6182806 + Missense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:6182806C>A ENST00000588304.1 + 9 1247 c.801C>A c.(799-801)ttC>ttA p.F267L ACSBG2_ENST00000586696.1_Missense_Mutation_p.F317L|ACSBG2_ENST00000588485.1_Missense_Mutation_p.F130L|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Missense_Mutation_p.F317L|ACSBG2_ENST00000252669.5_Missense_Mutation_p.F317L Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 317 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTACTGTCTTCATTGGAGTGC 0.478000 12 32 4.3838e-07 4.64073e-07 1 1 0 SGPP2 130367 broad.mit.edu 37 2 223339442 223339442 + Missense_Mutation SNP G G T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:223339442G>T ENST00000321276.7 + 2 461 c.375G>T c.(373-375)tgG>tgT p.W125C NM_152386.2 NP_689599.2 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphatase 2 125 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 18 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) TCATCATATGGGTTGTAAGTA 0.333000 17 49 1.33834e-09 1.42198e-09 1 1 0 SLC12A4 6560 broad.mit.edu 37 16 67995562 67995562 + Silent SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr16:67995562G>C ENST00000422611.2 - 2 303 c.264C>G c.(262-264)ctC>ctG p.L88L SLC12A4_ENST00000541864.2_Silent_p.L55L|SLC12A4_ENST00000572037.1_Silent_p.L38L|SLC12A4_ENST00000338335.3_Silent_p.L86L|SLC12A4_ENST00000537830.2_Silent_p.L80L|SLC12A4_ENST00000576616.1_Silent_p.L86L|SLC12A4_ENST00000316341.3_Silent_p.L86L|SLC12A4_ENST00000572010.1_5'UTR NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 86 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGTAGCTGACGAGCTTTCCCA 0.637000 40 4 0 0 1 0 0 SIL1 64374 broad.mit.edu 37 5 138362489 138362489 + Splice_Site SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr5:138362489C>G ENST00000394817.2 - 6 785 c.e6+1 SIL1_ENST00000265195.5_Splice_Site|SIL1_ENST00000509534.1_Splice_Site|CTB-46B19.2_ENST00000512875.2_RNA NM_022464.4 NP_071909.1 Q9H173 SIL1_HUMAN SIL1 nucleotide exchange factor intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AAATACAGTACCTGATGGACA 0.403000 Marinesco-Sjgren syndrome 19 25 0 0 1 0 0 ZNF397 84307 broad.mit.edu 37 18 32823181 32823181 + Missense_Mutation SNP A A T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr18:32823181A>T ENST00000330501.7 + 3 633 c.480A>T c.(478-480)caA>caT p.Q160H ZNF397_ENST00000261333.6_Missense_Mutation_p.Q160H|ZNF397_ENST00000592264.1_Missense_Mutation_p.Q160H|ZNF397_ENST00000585800.1_Missense_Mutation_p.Q160H|ZNF397_ENST00000589420.1_3'UTR|ZNF397_ENST00000355632.4_Missense_Mutation_p.Q160H|ZNF397_ENST00000591206.1_Missense_Mutation_p.Q160H NM_001135178.2 NP_001128650.1 Q8NF99 ZN397_HUMAN zinc finger protein 397 160 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 12 GAGCATCCCAAGAGTCAACAG 0.468000 19 49 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10406195 10406195 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:10406195C>T ENST00000226207.5 - 24 3065 c.2971G>A c.(2971-2973)Gaa>Aaa p.E991K RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 991 muscle myosin complex|myofibril|myosin filament actin binding|ATP 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 GCAATGGTTTCATCCAGACCC 0.517000 44 132 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27685103 27685103 + Splice_Site SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:27685103C>G ENST00000493901.1 - 21 2823 c.e21-1 MAP3K6_ENST00000357582.2_Splice_Site|MAP3K6_ENST00000374040.3_Splice_Site NM_004672.3 NP_004663.3 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ACATACCCACCTGTGGGGGGA 0.617000 11 28 0 0 1 0 0 CCP110 9738 broad.mit.edu 37 16 19559276 19559276 + Splice_Site SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr16:19559276G>C ENST00000396212.2 + 14 3276 c.e14-1 CCP110_ENST00000396208.2_Splice_Site|CCP110_ENST00000381396.5_Splice_Site NM_014711.4 NP_055526 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 TTTGTCAACAGAGTCCTTCAG 0.368000 46 65 0 0 1 0 0 GFI1B 8328 broad.mit.edu 37 9 135865219 135865219 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr9:135865219C>T ENST00000339463.3 + 10 1558 c.739C>T c.(739-741)Ccc>Tcc p.P247S GFI1B_ENST00000372122.1_Missense_Mutation_p.P247S|GFI1B_ENST00000450530.1_Missense_Mutation_p.P247S|GFI1B_ENST00000372123.1_Missense_Mutation_p.P201S|GFI1B_ENST00000534944.1_Missense_Mutation_p.P201S|GFI1B_ENST00000372124.1_Missense_Mutation_p.P201S Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 247 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) AGACACGCGGCCCTACCCCTG 0.622000 7 10 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786407 19786407 + Missense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr9:19786407C>A ENST00000341998.2 - 1 519 c.458G>T c.(457-459)tGt>tTt p.C153F SLC24A2_ENST00000286344.3_Missense_Mutation_p.C153F NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 153 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) GAACTCATCACAGACAATGGC 0.463000 17 27 3.45872e-05 3.59557e-05 1 1 0 C19orf47 126526 broad.mit.edu 37 19 40842073 40842073 + Missense_Mutation SNP T T C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:40842073T>C ENST00000582783.1 - 4 289 c.277A>G c.(277-279)Acc>Gcc p.T93A C19orf47_ENST00000392035.2_Missense_Mutation_p.T26A NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 93 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) CCCACCACGGTCACGCCCAGC 0.572000 15 36 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111398779 111398779 + Silent SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:111398779C>A ENST00000428084.1 - 41 4502 c.4230G>T c.(4228-4230)ccG>ccT p.P1410P DOCK4_ENST00000494651.2_Silent_p.P284P|DOCK4_ENST00000437633.1_Silent_p.P1401P Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1401 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TGATGTTGTCCGGAACACCCT 0.438000 10 36 7.48243e-07 7.86335e-07 1 1 0 TUBB8P7 197331 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr16:90162462A>G ENST00000564451.1 + 0 1815 TUBB8P7_ENST00000567960.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 4 103 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38350536 38350536 + Silent SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr3:38350536C>T ENST00000273173.4 + 4 958 c.867C>T c.(865-867)atC>atT p.I289I SLC22A14_ENST00000448498.1_Silent_p.I289I NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 289 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) TGACAGGGATCGCCTACAGTC 0.567000 18 40 0 0 1 0 0 CXCR3 2833 broad.mit.edu 37 X 70837175 70837175 + Silent SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:70837175C>T ENST00000373691.4 - 2 451 c.288G>A c.(286-288)ctG>ctA p.L96L CXCR3_ENST00000373693.3_Silent_p.L49L NM_001142797.1 NP_001136269.1 P49682 CXCR3_HUMAN chemokine (C-X-C motif) receptor 3 49 cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2) 10 Renal(35;0.156) GGTCGAAGTTCAGGCTGAAGT 0.632000 3 9 0 0 1 0 0 S1PR5 53637 broad.mit.edu 37 19 10625003 10625003 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:10625003G>A ENST00000439028.3 - 2 810 c.685C>T c.(685-687)Cgg>Tgg p.R229W S1PR5_ENST00000333430.4_Missense_Mutation_p.R229W NM_001166215.1 NP_001159687.1 Q9H228 S1PR5_HUMAN sphingosine-1-phosphate receptor 5 229 integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 12 GTCCCGGGCCGTGCCGGCAGG 0.716000 3 4 0 0 1 0 0 B4GALT3 8703 broad.mit.edu 37 1 161144881 161144881 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:161144881G>A ENST00000319769.5 - 4 613 c.391C>T c.(391-393)Cat>Tat p.H131Y B4GALT3_ENST00000367998.1_Missense_Mutation_p.H131Y|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron NM_001199873.1|NM_003779.3 NP_001186802.1|NP_003770.1 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 131 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) CGGGCACGATGAGGCACAATG 0.627000 18 90 0 0 1 0 0 ZPBP 11055 broad.mit.edu 37 7 50121395 50121395 + Silent SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:50121395A>G ENST00000046087.2 - 3 378 c.309T>C c.(307-309)taT>taC p.Y103Y ZPBP_ENST00000419417.1_Silent_p.Y103Y NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 103 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) CTTTAGGCCCATACCATTGGA 0.358000 34 31 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45499950 45499950 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr21:45499950G>C ENST00000291574.4 + 13 1840 c.1665G>C c.(1663-1665)gaG>gaC p.E555D NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 555 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 CTGAAGAGGAGCGCAAGCACT 0.522000 3 9 0 0 1 0 0 ASCL1 429 broad.mit.edu 37 12 103352303 103352303 + Missense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr12:103352303C>A ENST00000266744.3 + 1 840 c.281C>A c.(280-282)cCc>cAc p.P94H NM_004316.3 NP_004307.2 P50553 ASCL1_HUMAN achaete-scute family bHLH transcription factor 1 94 cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity NS(3)|large_intestine(1)|lung(1) 5 TCGTCTTCGCCCGAACTGATG 0.706000 3 7 0.150653 0.150653 1 1 0 CAPN5 726 broad.mit.edu 37 11 76830153 76830153 + Silent SNP G G T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr11:76830153G>T ENST00000278559.3 + 9 1434 c.1245G>T c.(1243-1245)cgG>cgT p.R415R CAPN5_ENST00000529629.1_Silent_p.R415R|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Silent_p.R455R NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 415 Domain III. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 CTACGCGCCGGGAGGGCAAGG 0.597000 8 17 5.18039e-06 5.40481e-06 1 1 0 SLC22A2 6582 broad.mit.edu 37 6 160664753 160664753 + Missense_Mutation SNP T T G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:160664753T>G ENST00000366953.3 - 7 1388 c.1130A>C c.(1129-1131)tAc>tCc p.Y377S SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 377 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GAAATCCAGGTAGATATTGTC 0.532000 4 71 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60584123 60584123 + Silent SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr20:60584123G>A ENST00000252996.4 - 5 1868 c.1869C>T c.(1867-1869)ctC>ctT p.L623L NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) AATTCTGCACGAGCTCTTTCA 0.443000 11 53 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14801753 14801753 + Silent SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr9:14801753G>A ENST00000380881.4 - 21 4409 c.3594C>T c.(3592-3594)atC>atT p.I1198I FREM1_ENST00000422223.2_Silent_p.I1197I|FREM1_ENST00000380880.3_Silent_p.I1197I Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1197 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) ACCCCCTATCGATGAGGAGGC 0.522000 31 86 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55143772 55143772 + Silent SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr18:55143772C>T ENST00000491143.2 + 2 1364 c.1332C>T c.(1330-1332)atC>atT p.I444I NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 444 organ morphogenesis nucleus sequence-specific DNA binding p.I444M(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) TCTTCGCCATCTTCAAGGAGA 0.527000 28 23 0 0 1 0 0 CHI3L1 1116 broad.mit.edu 37 1 203149636 203149636 + Missense_Mutation SNP G G A rs138989209 TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:203149636G>A ENST00000255409.3 - 8 981 c.856C>T c.(856-858)Cgg>Tgg p.R286W NM_001276.2 NP_001267.2 P36222 CH3L1_HUMAN chitinase 3-like 1 (cartilage glycoprotein-39) 286 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 TTGGTGAACCGGCCTGGAATT 0.582000 11 33 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427729 197427729 + Missense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr3:197427729C>A ENST00000273582.5 - 7 1381 c.836G>T c.(835-837)tGt>tTt p.C279F KIAA0226_ENST00000296343.5_Missense_Mutation_p.C339F|KIAA0226_ENST00000389665.5_Missense_Mutation_p.C339F|KIAA0226_ENST00000449205.1_Missense_Mutation_p.C339F NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 339 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding p.C279S(1)|p.C339S(1)|p.C172S(1) NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) GTGACTCTGACAGCTGGCAGT 0.592000 11 37 6.40141e-05 6.63085e-05 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38109344 38109344 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr22:38109344G>C ENST00000406386.3 + 5 637 c.382G>C c.(382-384)Gag>Cag p.E128Q NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 128 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CAGCTGCAACGAGGACCCCGG 0.642000 4 76 0 0 1 0 0 DANCR 57291 broad.mit.edu 37 4 53579432 53579432 + RNA SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:53579432G>C ENST00000411630.2 + 0 234 SNORA26_ENST00000391286.1_RNA NR_024031.1 TTTTAAGGTTGACCCAGTGCT 0.433000 20 58 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228462097 228462097 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:228462097G>A ENST00000570156.2 + 23 6834 c.6760G>A c.(6760-6762)Gtg>Atg p.V2254M OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1879M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V1879M|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V726M NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1237 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGGGAGTACGTGTGTGAGAG 0.657000 55 6 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27023921 27023921 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:27023921G>A ENST00000314616.6 + 30 4313 c.4030G>A c.(4030-4032)Gaa>Aaa p.E1344K SUPT6H_ENST00000347486.4_Missense_Mutation_p.E1344K NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1344 SH2. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CAAGCAAGCAGAAAAGATGAT 0.488000 20 71 0 0 1 0 0 YARS2 51067 broad.mit.edu 37 12 32908665 32908665 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr12:32908665G>C ENST00000324868.8 - 1 171 c.144C>G c.(142-144)ttC>ttG p.F48L NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 48 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) AGAAGTCCTTGAACAGACCTC 0.577000 OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 60 0 0 1 0 0 COMMD9 29099 broad.mit.edu 37 11 36300114 36300114 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr11:36300114G>C ENST00000263401.5 - 3 246 c.230C>G c.(229-231)tCc>tGc p.S77C COMMD9_ENST00000452374.2_Missense_Mutation_p.S35C|COMMD9_ENST00000532705.1_Missense_Mutation_p.S77C NM_014186.3 NP_054905.2 Q9P000 COMD9_HUMAN COMM domain containing 9 77 kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 5 all_lung(20;0.211) all_hematologic(20;0.107) CTCGGCAGAGGACAGGTCACG 0.502000 16 18 0 0 1 0 0 GLIPR1 11010 broad.mit.edu 37 12 75889386 75889386 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr12:75889386G>C ENST00000266659.3 + 4 764 c.563G>C c.(562-564)aGa>aCa p.R188T NM_006851.2 NP_006842.2 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 188 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 CCATATAAGAGAGGAGCCACC 0.378000 12 15 0 0 1 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52854017 52854017 + RNA SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr13:52854017G>A ENST00000451298.1 - 0 520 CCCGAAGATGGAAACGACATA 0.308000 3 8 0 0 1 0 0 DPY19L4 286148 broad.mit.edu 37 8 95793322 95793322 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr8:95793322G>C ENST00000414645.2 + 16 1742 c.1643G>C c.(1642-1644)aGa>aCa p.R548T NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 548 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) TTTTTTCCCAGATTAATGACA 0.313000 15 54 0 0 1 0 0 ZNF692 55657 broad.mit.edu 37 1 249150752 249150752 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:249150752G>C ENST00000451251.1 - 5 845 c.500C>G c.(499-501)tCt>tGt p.S167C ZNF692_ENST00000366469.5_Missense_Mutation_p.S162C|ZNF692_ENST00000366471.3_Missense_Mutation_p.S162C|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000427146.1_Missense_Mutation_p.S162C|ZNF692_ENST00000306601.4_Missense_Mutation_p.S162C NM_001136036.2 NP_001129508.1 Q9BU19 ZN692_HUMAN zinc finger protein 692 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(6)|lung(7)|stomach(1) 17 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) ATCATGCTCAGATTCCAAATC 0.502000 9 77 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56868057 56868057 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr16:56868057G>A ENST00000564887.1 + 12 1815 c.1186G>A c.(1186-1188)Gac>Aac p.D396N NUP93_ENST00000308159.5_Missense_Mutation_p.D519N|NUP93_ENST00000569842.1_Missense_Mutation_p.D519N|NUP93_ENST00000542526.1_Missense_Mutation_p.D396N NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 519 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CGAGCCTGGTGACCCTCCTTG 0.582000 31 45 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 29 0 0 1 0 0 TTC14 151613 broad.mit.edu 37 3 180320991 180320991 + Missense_Mutation SNP T T A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr3:180320991T>A ENST00000412756.2 + 3 435 c.366T>A c.(364-366)gaT>gaA p.D122E TTC14_ENST00000382584.4_Missense_Mutation_p.D122E|TTC14_ENST00000296015.4_Missense_Mutation_p.D122E NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 122 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTTTCCGAGATATTGAGCGTG 0.358000 28 131 0 0 1 0 0 DEFB110 245913 broad.mit.edu 37 6 49986803 49986803 + Silent SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:49986803A>G ENST00000371148.2 - 2 136 c.91T>C c.(91-93)Ttg>Ctg p.L31L DEFB110_ENST00000393660.2_Intron NM_001037497.1 NP_001032586.1 Q30KQ9 DB110_HUMAN defensin, beta 110 locus 31 defense response to bacterium extracellular region endometrium(1)|lung(1)|ovary(1) 3 Lung NSC(77;0.042) TCTCTCCTCAAGTCCAAGCTA 0.373000 18 68 0 0 1 0 0 RTCB 51493 broad.mit.edu 37 22 32792233 32792233 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr22:32792233G>A ENST00000216038.5 - 8 916 c.818C>T c.(817-819)gCg>gTg p.A273V RTCB_ENST00000451746.2_Intron NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase AGCTACCAGCGCATCTGGAAC 0.448000 3 49 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48313878 48313878 + Missense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:48313878C>A ENST00000435803.1 + 17 4639 c.4615C>A c.(4615-4617)Cag>Aag p.Q1539K NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1539 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AATTCCTAATCAGTTTCAAAA 0.308000 25 14 4.4004e-07 4.6413e-07 1 1 0 ARHGAP12 94134 broad.mit.edu 37 10 32197750 32197750 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr10:32197750G>A ENST00000375250.5 - 3 275 c.34C>T c.(34-36)Cca>Tca p.P12S ARHGAP12_ENST00000396144.4_Missense_Mutation_p.P12S|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.P12S|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.P12S|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.P12S NM_001270696.1|NM_001270698.1 NP_001257625.1|NP_001257627.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 12 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) ACTTGTCCTGGAATAATCTTC 0.353000 96 59 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345756 33345756 + Silent SNP T T C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr20:33345756T>C ENST00000374796.2 - 8 3365 c.795A>G c.(793-795)caA>caG p.Q265Q NCOA6_ENST00000359003.2_Silent_p.Q265Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 265 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.Q265Q(1) 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 gttgttgttgttgctgctgct 0.537000 11 27 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156634301 156634301 + Silent SNP T T C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:156634301T>C ENST00000296518.7 + 7 1347 c.1138T>C c.(1138-1140)Ttg>Ctg p.L380L GUCY1A3_ENST00000511507.1_Silent_p.L380L|GUCY1A3_ENST00000506455.1_Silent_p.L380L|GUCY1A3_ENST00000455639.2_Silent_p.L380L|GUCY1A3_ENST00000513574.1_Silent_p.L380L|GUCY1A3_ENST00000393832.3_Silent_p.L122L|GUCY1A3_ENST00000511108.1_Silent_p.L380L Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 380 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CAGTGCAATCTTGTTTTTGGG 0.433000 20 23 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76063816 76063816 + Silent SNP T T C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr11:76063816T>C ENST00000260045.3 - 5 483 c.378A>G c.(376-378)gaA>gaG p.E126E PRKRIR_ENST00000531878.1_5'UTR NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 126 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TATGTTTTTGTTCCTGCTCAG 0.363000 11 16 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27421758 27421758 + Silent SNP G G T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:27421758G>T ENST00000527372.1 - 30 4800 c.4620C>A c.(4618-4620)gtC>gtA p.V1540V MYO18A_ENST00000354329.4_Silent_p.V1540V|MYO18A_ENST00000533112.1_Silent_p.V1540V|MYO18A_ENST00000531253.1_Silent_p.V1540V NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1540 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GCTGTTTCTTGACCTTGGCCA 0.547000 68 51 1.10782e-18 1.24093e-18 1 1 0 SUCO 51430 broad.mit.edu 37 1 172501623 172501623 + Missense_Mutation SNP T T G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:172501623T>G ENST00000367723.4 + 1 135 c.11T>G c.(10-12)tTc>tGc p.F4C SUCO_ENST00000608151.1_Missense_Mutation_p.F4C NM_016227.2 NP_057311.3 SUN domain containing ossification factor ATGAGAGGATTCTTGGCACGC 0.498000 16 13 0 0 1 0 0 NBPF18P 441908 broad.mit.edu 37 1 151991000 151991000 + RNA SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:151991000C>G ENST00000432386.1 + 0 2162 NR_103561.1 ACGTTTTTCTCAACAGTAAGC 0.443000 5 10 0 0 1 0 0 IBTK 25998 broad.mit.edu 37 6 82883150 82883150 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:82883150G>C ENST00000306270.7 - 27 4280 c.3731C>G c.(3730-3732)tCt>tGt p.S1244C IBTK_ENST00000510291.1_Missense_Mutation_p.S1229C|IBTK_ENST00000503631.1_Missense_Mutation_p.S1043C NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 1244 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) ACCATGGGTAGAGCATCTGCA 0.373000 7 83 0 0 1 0 0 STX4 6810 broad.mit.edu 37 16 31045559 31045559 + Silent SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr16:31045559C>A ENST00000394998.1 + 4 482 c.139C>A c.(139-141)Cgg>Agg p.R47R STX4_ENST00000313843.3_Silent_p.R49R|STX4_ENST00000493902.1_3'UTR NM_001272096.1 NP_001259025.1 Q12846 STX4_HUMAN syntaxin 4 49 intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity p.R49R(1) NS(2)|breast(1)|large_intestine(3)|lung(3) 9 CCGGACAATTCGGCAGACTAT 0.577000 37 67 4.67007e-22 5.27207e-22 1 1 0 CHST4 10164 broad.mit.edu 37 16 71571339 71571339 + Silent SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr16:71571339G>A ENST00000338482.5 + 3 1102 c.759G>A c.(757-759)caG>caA p.Q253Q CHST4_ENST00000539698.3_Silent_p.Q253Q|CHST4_ENST00000572450.1_Silent_p.Q253Q|ZNF19_ENST00000568446.1_Intron Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 253 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 GCCAAAGCCAGCTGGAGATCT 0.547000 OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 9 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27324309 27324309 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr10:27324309C>T ENST00000376087.4 - 24 3235 c.3070G>A c.(3070-3072)Gag>Aag p.E1024K ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1040K|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E581K NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1023 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TTTGATGTCTCACTTTGATCA 0.373000 54 158 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28525375 28525375 + Silent SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr15:28525375G>A ENST00000261609.7 - 5 489 c.381C>T c.(379-381)gcC>gcT p.A127A NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 127 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTGACTGGACGGCCAGGGCCT 0.493000 22 35 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187549443 187549443 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:187549443C>T ENST00000441802.2 - 9 4884 c.4675G>A c.(4675-4677)Gcc>Acc p.A1559T NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1559 Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AACCACGGGGCGTGGTCATTC 0.498000 HNSCC(5;0.00058) 4 14 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3788650 3788650 + Missense_Mutation SNP T T C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr16:3788650T>C ENST00000262367.5 - 26 5113 c.4304A>G c.(4303-4305)gAt>gGt p.D1435G CREBBP_ENST00000382070.3_Missense_Mutation_p.D1397G NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1435 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.D1435G(2) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ATGAATACTATCCAGATAAGA 0.433000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 11 5 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141806708 141806708 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:141806708C>G ENST00000389484.3 - 11 2607 c.1636G>C c.(1636-1638)Gat>Cat p.D546H NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 546 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGTATTCATCAGCTATCTTG 0.418000 TSP Lung(27;0.18) 43 53 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112326041 112326041 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr3:112326041C>G ENST00000206423.3 - 7 3441 c.2488G>C c.(2488-2490)Gaa>Caa p.E830Q CCDC80_ENST00000439685.2_Missense_Mutation_p.E830Q NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 830 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 GGGAACAGTTCTAACACTCCC 0.388000 14 62 0 0 1 0 0 NEIL3 55247 broad.mit.edu 37 4 178243665 178243665 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:178243665G>A ENST00000264596.3 + 2 327 c.209G>A c.(208-210)gGa>gAa p.G70E NM_018248.2 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 70 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CTGTTTAATGGATATGTTTAC 0.413000 Base excision repair (BER), DNA glycosylases 40 111 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125131850 125131850 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr8:125131850G>A ENST00000522917.1 + 41 5599 c.5393G>A c.(5392-5394)cGc>cAc p.R1798H FER1L6_ENST00000399018.1_Missense_Mutation_p.R1798H|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1798 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCCCTCAGCCGCCCAGACACC 0.473000 26 111 0 0 1 0 0 TMEM104 54868 broad.mit.edu 37 17 72815897 72815897 + Silent SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:72815897C>T ENST00000335464.5 + 9 807 c.645C>T c.(643-645)ttC>ttT p.F215F TMEM104_ENST00000582330.1_Silent_p.F215F|TMEM104_ENST00000417024.2_Silent_p.F228F|TMEM104_ENST00000582773.1_Silent_p.F215F NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 215 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) AGGCGATCTTCACTCTCCTCC 0.582000 21 40 0 0 1 0 0 SEPSECS 51091 broad.mit.edu 37 4 25146650 25146650 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:25146650G>A ENST00000382103.2 - 7 982 c.910C>T c.(910-912)Cag>Tag p.Q304* SEPSECS_ENST00000302922.3_Nonsense_Mutation_p.Q225* NM_016955.3 NP_058651.3 Q9HD40 SPCS_HUMAN Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 304 selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding endometrium(1)|large_intestine(4)|lung(2)|stomach(1) 8 Breast(46;0.173) Pyridoxal Phosphate(DB00114) CTGATTTCCTGAATGAATGAA 0.333000 9 27 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49230467 49230467 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr12:49230467C>T ENST00000308025.3 - 10 1200 c.1121G>A c.(1120-1122)cGt>cAt p.R374H NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 374 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 GTAGTCCTCACGGAAGATCCG 0.517000 34 103 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128797294 128797294 + Missense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr5:128797294C>A ENST00000274487.4 + 2 718 c.573C>A c.(571-573)ttC>ttA p.F191L NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 191 Pro-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CGCCGCGCTTCGCAGTGGAAC 0.711000 3 2 0.004672 0.00470456 1 1 0 MARVELD2 153562 broad.mit.edu 37 5 68737416 68737416 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr5:68737416C>T ENST00000325631.5 + 7 1686 c.1612C>T c.(1612-1614)Cac>Tac p.H538Y MARVELD2_ENST00000413223.2_Missense_Mutation_p.H422Y NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 538 sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) TAAACTTTCTCACATAAAGCA 0.289000 26 36 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62254703 62254703 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:62254703C>T ENST00000258991.3 - 6 2658 c.2574G>A c.(2572-2574)atG>atA p.M858I TEX2_ENST00000584379.1_Missense_Mutation_p.M851I|TEX2_ENST00000583097.1_Missense_Mutation_p.M851I Q8IWB9 TEX2_HUMAN testis expressed 2 851 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TGCTGAGTTTCATTTGGATCT 0.388000 29 96 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36221296 36221296 + Silent SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:36221296C>T ENST00000222270.7 + 24 5130 c.5130C>T c.(5128-5130)ttC>ttT p.F1710F KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.F1710F NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B ATGTGGACTTCGAGGGCATCA 0.562000 21 290 0 0 1 0 0 SNW1 22938 broad.mit.edu 37 14 78217738 78217738 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr14:78217738G>A ENST00000261531.7 - 3 316 c.254C>T c.(253-255)gCg>gTg p.A85V SNW1_ENST00000554775.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A85V|SLIRP_ENST00000557431.1_Intron NM_012245.2 NP_036377.1 Q13573 SNW1_HUMAN SNW domain containing 1 85 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) AATGGCCAGCGCATTCGACAT 0.423000 23 39 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56400352 56400352 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:56400352C>A ENST00000355701.3 - 8 2023 c.1153G>T c.(1153-1155)Gag>Tag p.E385* BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.E325*|BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.E385* NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 385 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CGGGAGTTCTCCTCCACCAGG 0.642000 4 9 0.00909568 0.00912726 1 1 0 AIM1 202 broad.mit.edu 37 6 106967051 106967051 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:106967051G>C ENST00000369066.3 + 2 1231 c.744G>C c.(742-744)aaG>aaC p.K248N NM_001624.2 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 248 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AAACCCCTAAGAATCTTGACA 0.398000 10 28 0 0 1 0 0 C17orf53 78995 broad.mit.edu 37 17 42230004 42230004 + Splice_Site SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:42230004G>A ENST00000319977.4 + 5 1545 c.e5-1 C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Splice_Site NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) TGTGGTACCAGATTGTTGCTA 0.532000 21 50 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73749267 73749267 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:73749267C>T ENST00000276033.5 + 5 1778 c.1612C>T c.(1612-1614)Ccc>Tcc p.P538S SLC16A2_ENST00000587091.1_Missense_Mutation_p.P464S P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 464 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) TGCTGGGCCCCCCATTGCAGG 0.587000 4 0 0 0 1 0 0 PGK1 5230 broad.mit.edu 37 X 77373557 77373557 + Silent SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:77373557A>G ENST00000373316.4 + 6 698 c.531A>G c.(529-531)gtA>gtG p.V177V PGK1_ENST00000537456.1_Silent_p.V149V|PGK1_ENST00000442431.1_Intron NM_000291.3 NP_000282.1 P00558 PGK1_HUMAN phosphoglycerate kinase 1 177 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 24 GCTCCATGGTAGGAGTCAATC 0.463000 15 49 0 0 1 0 0 ZNF154 7710 broad.mit.edu 37 19 58213424 58213424 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:58213424G>A ENST00000512439.2 - 3 1089 c.893C>T c.(892-894)tCc>tTc p.S298F ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.S298F Q13106 ZN154_HUMAN zinc finger protein 154 298 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ATAAGGCCTGGATCCACTGTG 0.453000 7 74 0 0 1 0 0 ZNF317 57693 broad.mit.edu 37 19 9268013 9268013 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:9268013C>G ENST00000247956.6 + 4 537 c.232C>G c.(232-234)Cag>Gag p.Q78E ZNF317_ENST00000360385.3_Missense_Mutation_p.Q78E NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 78 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 GGATTCTTCTCAGAGAAAACT 0.478000 5 81 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 107862948 107862948 + Silent SNP G G T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr13:107862948G>T ENST00000375915.2 - 2 1209 c.1071C>A c.(1069-1071)tcC>tcA p.S357S NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 357 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 AGATGAAACTGGAGAGGCCTC 0.468000 14 22 0.000219431 0.000224878 1 1 0 INTS8 55656 broad.mit.edu 37 8 95837288 95837288 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr8:95837288G>C ENST00000523731.1 + 2 431 c.298G>C c.(298-300)Gag>Cag p.E100Q INTS8_ENST00000447247.1_Missense_Mutation_p.E100Q NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 100 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) AGACATATTAGAGAAAAGGTA 0.318000 17 54 0 0 1 0 0 CRYBG3 131544 broad.mit.edu 37 3 97596216 97596216 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr3:97596216G>A ENST00000182096.4 + 1 398 c.334G>A c.(334-336)Gag>Aag p.E112K NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 TAAATTAGGTGAGACATTTGA 0.403000 6 194 0 0 1 0 0 SSPN 8082 broad.mit.edu 37 12 26383790 26383790 + Silent SNP G G A rs147508239 TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr12:26383790G>A ENST00000242729.2 + 3 690 c.513G>A c.(511-513)ccG>ccA p.P171P SSPN_ENST00000540266.1_Silent_p.P68P|SSPN_ENST00000535504.1_Intron|RP11-283G6.5_ENST00000537525.1_RNA|RP11-283G6.5_ENST00000540625.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000422622.2_Silent_p.P68P NM_005086.4 NP_005077.2 Q14714 SSPN_HUMAN sarcospan 171 cell adhesion|muscle contraction cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 Colorectal(261;0.0847) CCTCGGAGCCGCTCAGCAGGA 0.532000 3 49 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 5 97 0 0 1 0 0 TMEM194A 23306 broad.mit.edu 37 12 57464502 57464502 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr12:57464502C>G ENST00000300128.4 - 3 450 c.427G>C c.(427-429)Gag>Cag p.E143Q TMEM194A_ENST00000379391.3_Intron|TMEM194A_ENST00000553654.1_5'UTR NM_001130963.1 NP_001124435.1 O14524 T194A_HUMAN transmembrane protein 194A 143 integral to membrane endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TCTATAATCTCAACTTTGAGG 0.383000 3 5 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126784811 126784811 + Missense_Mutation SNP T T G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr5:126784811T>G ENST00000274473.6 + 23 3144 c.2877T>G c.(2875-2877)ttT>ttG p.F959L MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Missense_Mutation_p.F959L NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 959 Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ATCAACTGTTTGTGAATCTTA 0.448000 29 38 0 0 1 0 0 TPP1 1200 broad.mit.edu 37 11 6638990 6638990 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr11:6638990C>G ENST00000299427.6 - 4 307 c.247G>C c.(247-249)Gag>Cag p.E83Q TPP1_ENST00000534644.1_5'UTR|TPP1_ENST00000533371.1_5'UTR NM_000391.3 NP_000382.3 O14773 TPP1_HUMAN tripeptidyl peptidase I 83 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) GCCACATTCTCTAGGGTCAGG 0.527000 16 35 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389077 1389077 + Missense_Mutation SNP G G A rs71299249 TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:1389077G>A ENST00000324803.4 + 1 3738 c.778G>A c.(778-780)Gcc>Acc p.A260T NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 260 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGGAGTGCCCGCCTGCTCACA 0.692000 95 52 0 0 1 0 0 TMEM59L 25789 broad.mit.edu 37 19 18727876 18727876 + Silent SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:18727876C>A ENST00000600490.1 + 6 813 c.628C>A c.(628-630)Cga>Aga p.R210R TMEM59L_ENST00000262817.3_Silent_p.R210R Q9UK28 TM59L_HUMAN transmembrane protein 59-like 210 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 GGTGACCTGGCGAGGCTCCCA 0.642000 29 54 2.65835e-16 2.96626e-16 1 1 0 TCP10 6953 broad.mit.edu 37 6 167796307 167796307 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:167796307C>T ENST00000366827.2 - 2 266 c.55G>A c.(55-57)Gag>Aag p.E19K TCP10_ENST00000397829.4_Missense_Mutation_p.E19K|TCP10_ENST00000476779.2_Missense_Mutation_p.E19K Q12799 TCP10_HUMAN t-complex 10 46 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) ACCGGCATCTCCCCGGCATTG 0.647000 6 15 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55780086 55780086 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr10:55780086C>G ENST00000373965.2 - 21 3032 c.2638G>C c.(2638-2640)Gaa>Caa p.E880Q PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E851Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.E873Q|PCDH15_ENST00000409834.1_Missense_Mutation_p.E484Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.E873Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.E880Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.E873Q|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E873Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.E878Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.E802Q|PCDH15_ENST00000373955.1_Missense_Mutation_p.E873Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.E836Q NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 873 Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AGCGATAGTTCTCCTGTAAAT 0.408000 HNSCC(58;0.16) 35 55 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96436024 96436024 + Missense_Mutation SNP G G T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr9:96436024G>T ENST00000359246.4 + 18 2873 c.2506G>T c.(2506-2508)Ggc>Tgc p.G836C PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 836 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) GAATGGGGGTGGCAGTGGCAA 0.642000 15 13 0.000422831 0.000431796 1 1 0 TMBIM1 64114 broad.mit.edu 37 2 219146760 219146760 + Silent SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:219146760C>T ENST00000444881.1 - 3 830 c.105G>A c.(103-105)ggG>ggA p.G35G TMBIM1_ENST00000258412.3_Silent_p.G35G|TMBIM1_ENST00000445635.1_Intron|TMBIM1_ENST00000396809.2_Silent_p.G35G|PNKD_ENST00000472650.1_Intron|PNKD_ENST00000273077.4_Intron Q969X1 TMBI1_HUMAN transmembrane BAX inhibitor motif containing 1 35 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2) 9 Renal(207;0.0474) Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGCAGGATACCCTCCTGGCA 0.677000 4 3 0 0 1 0 0 UBA3 9039 broad.mit.edu 37 3 69104646 69104646 + Missense_Mutation SNP G G A rs147779512 TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr3:69104646G>A ENST00000361055.4 - 18 1388 c.1334C>T c.(1333-1335)gCg>gTg p.A445V UBA3_ENST00000540295.1_Missense_Mutation_p.A268V|UBA3_ENST00000349511.4_Missense_Mutation_p.A431V|CTD-2013N24.2_ENST00000595925.1_RNA|UBA3_ENST00000415609.2_Missense_Mutation_p.A404V NM_003968.3 NP_003959.3 Q8TBC4 UBA3_HUMAN ubiquitin-like modifier activating enzyme 3 445 Interaction with UBE2M core domain. protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) ATCAGCAACCGCCAGTTCTTG 0.328000 15 11 0 0 1 0 0 SNX14 57231 broad.mit.edu 37 6 86227732 86227732 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:86227732C>G ENST00000314673.3 - 22 2318 c.2142G>C c.(2140-2142)atG>atC p.M714I SNX14_ENST00000505648.1_Missense_Mutation_p.M662I|SNX14_ENST00000369627.2_Missense_Mutation_p.M705I|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.M433I|SNX14_ENST00000346348.3_Missense_Mutation_p.M661I NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 714 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) TCACCTCTTTCATTAGTTTTC 0.259000 20 88 0 0 1 0 0 SLC5A5 6528 broad.mit.edu 37 19 17988654 17988654 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:17988654C>T ENST00000222248.3 + 6 1168 c.821C>T c.(820-822)aCa>aTa p.T274I NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 274 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GCTTGCCGCACAGAGAAGCAG 0.602000 21 46 0 0 1 0 0 RPL13 6137 broad.mit.edu 37 16 89629387 89629387 + Silent SNP C C G rs16966725 TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr16:89629387C>G ENST00000393099.3 + 5 822 c.573C>G c.(571-573)ctC>ctG p.L191L RPL13_ENST00000311528.5_Silent_p.L191L|RPL13_ENST00000452368.3_Silent_p.L144L|RPL13_ENST00000567815.1_Silent_p.L191L NM_033251.2 NP_150254.1 P26373 RL13_HUMAN ribosomal protein L13 191 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic ribosome protein binding|RNA binding|structural constituent of ribosome lung(3)|skin(1)|upper_aerodigestive_tract(2) 6 all_hematologic(23;0.0748) all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139) ACGCCCGGCTCTTCGGCATAC 0.502000 65 9 0 0 1 0 0 ABHD6 57406 broad.mit.edu 37 3 58271096 58271096 + Silent SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr3:58271096C>G ENST00000478253.1 + 9 1254 c.753C>G c.(751-753)gtC>gtG p.V251V ABHD6_ENST00000295962.4_Silent_p.V251V Q9BV23 ABHD6_HUMAN abhydrolase domain containing 6 251 integral to membrane acylglycerol lipase activity NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) TGGAAATCGTCAGTGAGAAGT 0.473000 11 39 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169138967 169138967 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr5:169138967G>A ENST00000256935.8 + 16 1591 c.1511G>A c.(1510-1512)aGg>aAg p.R504K DOCK2_ENST00000520908.1_Missense_Mutation_p.G31R|DOCK2_ENST00000540750.1_5'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 504 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACATGCAGAGGATCCATCTG 0.512000 18 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179454900 179454900 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:179454900C>G ENST00000589042.1 - 304 61776 c.61552G>C c.(61552-61554)Gtc>Ctc p.V20518L TTN_ENST00000342175.6_Missense_Mutation_p.V11645L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V18877L|TTN_ENST00000342992.6_Missense_Mutation_p.V17950L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V11453L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V11578L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18877 Fibronectin type-III 49. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTCTCGGACCAATACTTTG 0.438000 21 44 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700911 136700911 + Missense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:136700911C>A ENST00000445907.2 + 3 1827 c.1299C>A c.(1297-1299)agC>agA p.S433R hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S433R|CHRM2_ENST00000397608.3_Missense_Mutation_p.S433R|CHRM2_ENST00000401861.1_Missense_Mutation_p.S433R|CHRM2_ENST00000402486.3_Missense_Mutation_p.S433R|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S433R|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000586239.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 433 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ACATCAACAGCACTATCAACC 0.453000 55 78 1.17673e-23 1.33363e-23 1 1 0 SYK 6850 broad.mit.edu 37 9 93607847 93607847 + Silent SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr9:93607847G>C ENST00000375754.4 + 3 697 c.549G>C c.(547-549)ctG>ctC p.L183L SYK_ENST00000375746.1_Silent_p.L183L|SYK_ENST00000375751.4_Silent_p.L183L|SYK_ENST00000375747.1_Silent_p.L183L NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 183 SH2 2. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 AAATTGTCCTGATAGGATCAA 0.483000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 21 23 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35608220 35608220 + Missense_Mutation SNP T T A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr8:35608220T>A ENST00000287272.2 + 12 1869 c.1849T>A c.(1849-1851)Tgt>Agt p.C617S UNC5D_ENST00000449677.1_Missense_Mutation_p.C262S|UNC5D_ENST00000416672.1_Missense_Mutation_p.C691S|UNC5D_ENST00000420357.1_Missense_Mutation_p.C619S|UNC5D_ENST00000453357.2_Missense_Mutation_p.C681S|UNC5D_ENST00000404895.2_Missense_Mutation_p.C686S Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 686 ZU5. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AATCACAGACTGTGCCGTGAA 0.507000 40 58 0 0 1 0 0 ISL1 3670 broad.mit.edu 37 5 50685631 50685631 + Missense_Mutation SNP G G T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr5:50685631G>T ENST00000230658.7 + 4 1215 c.630G>T c.(628-630)atG>atT p.M210I ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.M210I NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 210 generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) ATGCGCTCATGAAGGAGCAAC 0.592000 16 15 6.94344e-10 7.40463e-10 1 1 0 ZNF518A 9849 broad.mit.edu 37 10 97917738 97917738 + RNA SNP G G T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr10:97917738G>T ENST00000534948.1 + 0 2516 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) TATCTTCTTTGTCAGCAACAT 0.343000 17 42 4.14922e-12 4.525e-12 1 1 0 SPATA20 64847 broad.mit.edu 37 17 48627416 48627416 + Silent SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:48627416G>A ENST00000006658.6 + 8 1053 c.933G>A c.(931-933)caG>caA p.Q311Q SPATA20_ENST00000356488.4_Silent_p.Q295Q|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.Q251Q NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 295 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) GGGCCCAGCAGATGGCCTTGC 0.617000 108 72 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44222934 44222934 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:44222934G>A ENST00000244314.5 + 2 423 c.224G>A c.(223-225)cGt>cAt p.R75H NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 75 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) AATGCCCTGCGTGGCCTGGAG 0.682000 23 45 0 0 1 0 0 ZNF653 115950 broad.mit.edu 37 19 11598656 11598656 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:11598656C>G ENST00000293771.5 - 4 758 c.622G>C c.(622-624)Gag>Cag p.E208Q CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 GGAGACTCCTCAGAGTCAGAG 0.652000 4 19 0 0 1 0 0 SQSTM1 8878 broad.mit.edu 37 5 179260685 179260685 + Silent SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr5:179260685A>G ENST00000389805.4 + 7 1246 c.1068A>G c.(1066-1068)ctA>ctG p.L356L SQSTM1_ENST00000510187.1_Intron|SQSTM1_ENST00000360718.5_Silent_p.L272L|SQSTM1_ENST00000376929.3_Silent_p.L272L|SQSTM1_ENST00000402874.3_Silent_p.L272L NM_003900.4 NP_003891.1 Q13501 SQSTM_HUMAN sequestosome 1 356 Interaction with NTRK1 (By similarity). anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCAGTCCCTACAGATGCCAG 0.562000 17 22 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540611 55540611 + Missense_Mutation SNP A A T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr8:55540611A>T ENST00000220676.1 + 4 4317 c.4169A>T c.(4168-4170)cAt>cTt p.H1390L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1390 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTGGTGTCACATCAAAATGTC 0.323000 19 83 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108363559 108363559 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr3:108363559C>T ENST00000361582.3 + 14 1920 c.1690C>T c.(1690-1692)Cag>Tag p.Q564* DZIP3_ENST00000463306.1_Nonsense_Mutation_p.Q564* NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 564 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 TGATTACCATCAGCTATCTGT 0.383000 20 86 0 0 1 0 0 TMEM120A 83862 broad.mit.edu 37 7 75616574 75616574 + RNA SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:75616574G>C ENST00000338761.4 - 0 1036 TMEM120A_ENST00000493111.2_RNA Q9BXJ8 T120A_HUMAN transmembrane protein 120A integral to membrane CGAGGAAAAGGAGGAGGAAGG 0.607000 6 12 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107978819 107978819 + Silent SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:107978819G>C ENST00000372129.2 - 1 832 c.756C>G c.(754-756)ggC>ggG p.G252G NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 252 IRS-type PTB. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GCCGGAACACGCCGCTCAGCT 0.622000 12 30 0 0 1 0 0 CD274 29126 broad.mit.edu 37 9 5465595 5465595 + Missense_Mutation SNP G G A rs148141792 TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr9:5465595G>A ENST00000381577.3 + 5 865 c.779G>A c.(778-780)cGt>cAt p.R260H CD274_ENST00000381573.4_Missense_Mutation_p.R146H|CD274_ENST00000498261.1_Intron NM_014143.3 NP_054862.1 Q9NZQ7 PD1L1_HUMAN CD274 molecule 260 cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation endomembrane system|integral to membrane receptor activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111) TTCATCTTCCGTTTAAGAAAA 0.458000 T CIITA """PMBL, Hodgkin Lymphona, """ 12 44 0 0 1 0 0 YARS2 51067 broad.mit.edu 37 12 32908747 32908747 + Nonsense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr12:32908747G>C ENST00000324868.8 - 1 89 c.62C>G c.(61-63)tCa>tGa p.S21* NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 21 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) CAACAATACTGAGAGATTTAG 0.607000 OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 25 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049257 36049257 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr5:36049257C>G ENST00000282507.3 - 4 678 c.577G>C c.(577-579)Gat>Cat p.D193H UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.D159H|UGT3A2_ENST00000545528.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 193 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCCATGTGATCAGTCAGCAAG 0.453000 14 51 0 0 1 0 0 INA 9118 broad.mit.edu 37 10 105048381 105048381 + Silent SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr10:105048381G>A ENST00000369849.4 + 3 1504 c.1455G>A c.(1453-1455)gaG>gaA p.E485E NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 485 Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) AGAAAACCGAGAAATCAAATA 0.348000 12 32 0 0 1 0 0 FZD1 8321 broad.mit.edu 37 7 90895249 90895249 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:90895249G>A ENST00000287934.2 + 1 1467 c.1054G>A c.(1054-1056)Gag>Aag p.E352K NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 352 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CAGCTACCCGGAGCGGCCCAT 0.607000 22 97 0 0 1 0 0 GDAP2 54834 broad.mit.edu 37 1 118441780 118441780 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:118441780C>T ENST00000369443.5 - 7 944 c.695G>A c.(694-696)cGa>cAa p.R232Q GDAP2_ENST00000369442.3_Missense_Mutation_p.R232Q NM_017686.3 NP_060156.1 Q9NXN4 GDAP2_HUMAN ganglioside induced differentiation associated protein 2 kidney(2)|large_intestine(3)|lung(9)|ovary(2) 16 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) GGGCAATGATCGATTCTCCTC 0.433000 52 12 0 0 1 0 0 GKN1 56287 broad.mit.edu 37 2 69204645 69204645 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:69204645C>G ENST00000377938.2 + 2 136 c.73C>G c.(73-75)Ctt>Gtt p.L25V NM_019617.3 NP_062563.3 Q9NS71 GKN1_HUMAN gastrokine 1 25 digestion|positive regulation of cell division extracellular region breast(2)|large_intestine(4)|lung(5) 11 TGCTGGACTTCTTGGAGTCTT 0.373000 32 62 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96506730 96506730 + Splice_Site SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr13:96506730C>G ENST00000376747.3 - 35 4079 c.e35-1 NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 GTCTCACAATCTAAATAATTA 0.343000 4 14 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26500945 26500945 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr10:26500945G>C ENST00000543632.1 + 17 2010 c.1950G>C c.(1948-1950)caG>caC p.Q650H MYO3A_ENST00000265944.5_3'UTR Q8NEV4 MYO3A_HUMAN myosin IIIA 0 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CTGCGGGGCAGCAGGGGCCAA 0.697000 5 15 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 41 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166963285 166963285 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:166963285C>T ENST00000367872.4 + 5 746 c.502C>T c.(502-504)Cga>Tga p.R168* MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Nonsense_Mutation_p.R137* NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 168 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 ACGAGGATTTCGATTTCATTG 0.338000 19 23 0 0 1 0 0 HPD 3242 broad.mit.edu 37 12 122295275 122295275 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr12:122295275C>T ENST00000543163.1 - 5 485 c.40G>A c.(40-42)Ggt>Agt p.G14S HPD_ENST00000289004.4_Missense_Mutation_p.G53S NM_001171993.1 NP_001165464.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 53 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) TCCCGGGAACCGGTCTCCAGG 0.587000 55 53 0 0 1 0 0 AXIN2 8313 broad.mit.edu 37 17 63554379 63554379 + Missense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:63554379C>A ENST00000307078.5 - 2 673 c.360G>T c.(358-360)atG>atT p.M120I AXIN2_ENST00000375702.5_Missense_Mutation_p.M120I|CTD-2535L24.2_ENST00000577662.1_3'UTR NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 120 RGS. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 CCTTCAGGTTCATCTGCCTGA 0.478000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 75 69 1.92445e-52 2.20701e-52 1 1 0 RDH12 145226 broad.mit.edu 37 14 68191897 68191897 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr14:68191897C>G ENST00000551171.1 + 5 593 c.269C>G c.(268-270)tCc>tGc p.S90C RDH12_ENST00000267502.3_Missense_Mutation_p.S90C|RDH12_ENST00000539142.1_Missense_Mutation_p.S90C NM_152443.2 NP_689656.2 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 90 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4) 12 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) ACAAAGAACTCCCAGGTGCTG 0.517000 22 44 0 0 1 0 0 CYTH1 9267 broad.mit.edu 37 17 76676294 76676294 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:76676294C>G ENST00000589297.1 - 13 1611 c.919G>C c.(919-921)Gag>Cag p.E307Q CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Missense_Mutation_p.E366Q|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000361101.4_Missense_Mutation_p.E366Q|CYTH1_ENST00000591455.1_Missense_Mutation_p.E365Q|CYTH1_ENST00000585509.1_Missense_Mutation_p.E307Q Q15438 CYH1_HUMAN cytohesin 1 366 PH. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 ATCCACTCCTCCTTCTCCTCG 0.562000 18 14 0 0 1 0 0 GLUD2 2747 broad.mit.edu 37 X 120182836 120182836 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:120182836G>C ENST00000328078.1 + 1 1375 c.1298G>C c.(1297-1299)gGa>gCa p.G433A NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 433 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) TTGAATGCTGGAGGAGTGACA 0.418000 63 109 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34016339 34016339 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr15:34016339C>G ENST00000389232.4 + 45 6944 c.6874C>G c.(6874-6876)Ctt>Gtt p.L2292V RYR3_ENST00000415757.3_Missense_Mutation_p.L2292V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2292 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTATTCGGCCCTTATAGATCT 0.463000 7 16 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3240328 3240328 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:3240328G>A ENST00000355072.5 + 65 9191 c.9046G>A c.(9046-9048)Gtg>Atg p.V3016M NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 3016 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GGCCACCGTGGTGTATAAGGT 0.557000 20 11 0 0 1 0 0 OSBPL7 114881 broad.mit.edu 37 17 45894223 45894223 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:45894223C>A ENST00000007414.3 - 9 909 c.718G>T c.(718-720)Gaa>Taa p.E240* OSBPL7_ENST00000392507.3_Nonsense_Mutation_p.E240* NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 240 lipid transport lipid binding p.E240K(1) autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 TTGGGTCTTTCGGTTGTCACT 0.582000 19 52 3.5997e-14 3.97066e-14 1 1 0 MTM1 4534 broad.mit.edu 37 X 149807418 149807418 + Silent SNP A A G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:149807418A>G ENST00000370396.2 + 7 501 c.447A>G c.(445-447)ccA>ccG p.P149P MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Silent_p.P112P|MTM1_ENST00000542741.1_Silent_p.P54P|MTM1_ENST00000543350.1_Silent_p.P34P NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 149 endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) TTTTCTAGCCATTATTTGCAT 0.328000 32 32 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123342482 123342482 + Silent SNP T T C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:123342482T>C ENST00000296513.2 + 12 1739 c.1554T>C c.(1552-1554)ttT>ttC p.F518F ADAD1_ENST00000388725.2_Silent_p.F500F|ADAD1_ENST00000388724.2_Silent_p.F507F NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 518 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TAAGTCGGTTTAACCTGCTTG 0.343000 17 70 0 0 1 0 0 C17orf53 78995 broad.mit.edu 37 17 42230091 42230091 + Silent SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:42230091G>A ENST00000319977.4 + 5 1632 c.1395G>A c.(1393-1395)gaG>gaA p.E465E C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Silent_p.E465E NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 465 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) GCCTGGATGAGAGAGACCCTA 0.532000 22 59 0 0 1 0 0 HMGN4 10473 broad.mit.edu 37 6 26545615 26545615 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:26545615G>A ENST00000377575.2 + 2 358 c.181G>A c.(181-183)Gat>Aat p.D61N NM_006353.2 NP_006344.1 O00479 HMGN4_HUMAN high mobility group nucleosomal binding domain 4 61 chromatin|nucleus DNA binding lung(2)|skin(1) 3 GGGGAAAGCAGATGCTGGAAA 0.517000 29 54 0 0 1 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118006244 118006244 + Missense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:118006244C>A ENST00000310754.4 - 1 492 c.306G>T c.(304-306)ttG>ttT p.L102F NM_152402.2 NP_689615.2 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 1 102 protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 TAATTTTATCCAACACATATT 0.368000 27 35 7.92952e-12 8.58289e-12 1 1 0 TRAPPC12 51112 broad.mit.edu 37 2 3482678 3482678 + Missense_Mutation SNP T T G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:3482678T>G ENST00000324266.5 + 11 2134 c.1939T>G c.(1939-1941)Tta>Gta p.L647V TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L647V NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 647 binding CACAGAGATCTTAAGGATGGA 0.522000 11 39 0 0 1 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145726134 145726134 + Silent SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr8:145726134G>A ENST00000292539.4 + 8 1814 c.897G>A c.(895-897)gaG>gaA p.E299E PPP1R16A_ENST00000435887.1_Silent_p.E299E Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 299 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGATGGACGAGACGCCCCTTG 0.706000 7 11 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206587351 206587351 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr2:206587351G>A ENST00000360409.3 + 4 1374 c.583G>A c.(583-585)Gac>Aac p.D195N NRP2_ENST00000540178.1_Missense_Mutation_p.D195N|NRP2_ENST00000357118.4_Missense_Mutation_p.D195N|NRP2_ENST00000417189.1_Missense_Mutation_p.D195N|NRP2_ENST00000357785.5_Missense_Mutation_p.D195N|NRP2_ENST00000272849.3_Missense_Mutation_p.D195N|NRP2_ENST00000355117.4_Missense_Mutation_p.D195N|NRP2_ENST00000412873.2_Missense_Mutation_p.D195N|NRP2_ENST00000540841.1_Missense_Mutation_p.D195N NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 195 CUB 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 CCTGATCTTTGACCTGGAGCA 0.522000 15 37 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148800826 148800826 + Silent SNP G G A rs142180575 TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:148800826G>A ENST00000378061.2 - 4 2269 c.2137C>T c.(2137-2139)Ctg>Ttg p.L713L NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 713 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGAAGGCACAGATGGGCCTTC 0.552000 19 52 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43689045 43689045 + Missense_Mutation SNP G G T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:43689045G>T ENST00000404580.1 - 2 407 c.319C>A c.(319-321)Ctg>Atg p.L107M PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Missense_Mutation_p.L107M|PSG5_ENST00000599812.1_Missense_Mutation_p.L107M|PSG5_ENST00000366175.3_Missense_Mutation_p.L107M|PSG5_ENST00000342951.6_Missense_Mutation_p.L107M|PSG5_ENST00000407356.1_Missense_Mutation_p.L107M Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 107 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TGGATCAGCAGGGATGCATTG 0.433000 66 269 4.90955e-16 5.43625e-16 1 1 0 MGME1 92667 broad.mit.edu 37 20 17968833 17968833 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr20:17968833G>C ENST00000377710.5 + 4 1044 c.756G>C c.(754-756)tgG>tgC p.W252C MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377704.4_Intron|MGME1_ENST00000377709.1_Missense_Mutation_p.W172C NM_052865.2 NP_443097.1 mitochondrial genome maintenance exonuclease 1 TGATTGATTGGAAGACATCAG 0.398000 31 30 0 0 1 0 0 KIF17 57576 broad.mit.edu 37 1 20991117 20991117 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:20991117C>G ENST00000247986.2 - 15 3360 c.3050G>C c.(3049-3051)cGt>cCt p.R1017P KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Missense_Mutation_p.R1016P|KIF17_ENST00000375044.1_Missense_Mutation_p.R917P Q9P2E2 KIF17_HUMAN kinesin family member 17 1017 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) GCTTTTCTTACGCTTGGCCTT 0.592000 22 93 0 0 1 0 0 INA 9118 broad.mit.edu 37 10 105048340 105048340 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr10:105048340G>C ENST00000369849.4 + 3 1463 c.1414G>C c.(1414-1416)Gaa>Caa p.E472Q NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 472 Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) AAGTTTTGAAGAAATATTAGA 0.383000 12 27 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79933322 79933322 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr9:79933322G>C ENST00000360280.3 + 41 5388 c.5128G>C c.(5128-5130)Gct>Cct p.A1710P VPS13A_ENST00000376636.3_Missense_Mutation_p.A1671P|VPS13A_ENST00000376634.4_Missense_Mutation_p.A1710P|VPS13A_ENST00000357409.5_Missense_Mutation_p.A1710P|VPS13A_ENST00000423463.2_3'UTR NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1710 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TGAAAAAATAGCTCCCACAAC 0.348000 22 46 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997644 19997644 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr18:19997644C>G ENST00000391403.2 - 1 234 c.131G>C c.(130-132)aGa>aCa p.R44T NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 44 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) CTTTTTCTCTCTTCTCACATA 0.378000 13 32 0 0 1 0 0 ZNF324 25799 broad.mit.edu 37 19 58983384 58983384 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:58983384G>A ENST00000536459.2 + 4 2234 c.1525G>A c.(1525-1527)Gtc>Atc p.V509I ZNF324_ENST00000535298.1_Missense_Mutation_p.V286I|ZNF324_ENST00000196482.3_Missense_Mutation_p.V509I O75467 Z324A_HUMAN zinc finger protein 324 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CGAGAAGACCGTCCGGCGATC 0.682000 7 30 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123184656 123184656 + Missense_Mutation SNP G G T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr4:123184656G>T ENST00000264501.4 + 44 7415 c.7042G>T c.(7042-7044)Gtg>Ttg p.V2348L KIAA1109_ENST00000455637.1_Missense_Mutation_p.V2348L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.V2348L Q2LD37 K1109_HUMAN KIAA1109 2348 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GCCATCATCTGTGAGTTTCTA 0.358000 18 94 9.7654e-05 0.000100793 1 1 0 SDCCAG8 10806 broad.mit.edu 37 1 243480113 243480113 + Missense_Mutation SNP C C G rs35859404 byFrequency TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:243480113C>G ENST00000366541.3 + 9 1104 c.986C>G c.(985-987)aCg>aGg p.T329R SDCCAG8_ENST00000391846.1_Missense_Mutation_p.T329R|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.T184R|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.T286R NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 329 Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TTGGCAGATACGCAGCAAAGA 0.393000 23 61 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32141468 32141468 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr10:32141468G>C ENST00000375250.5 - 6 1388 c.1147C>G c.(1147-1149)Cgg>Ggg p.R383G ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R383G|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R336G|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.R383G|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R336G NM_001270696.1|NM_001270698.1 NP_001257625.1|NP_001257627.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 383 WW 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) CATTCTGACCGAGATCCGTCT 0.328000 6 245 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72667206 72667206 + Silent SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr12:72667206C>G ENST00000261180.4 + 1 744 c.648C>G c.(646-648)gtC>gtG p.V216V TRHDE-AS1_ENST00000426250.3_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 216 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AAACCCAGGTCTTAGTGGTGG 0.567000 14 43 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43411978 43411978 + Missense_Mutation SNP G G C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr19:43411978G>C ENST00000187910.2 - 4 800 c.735C>G c.(733-735)atC>atG p.I245M PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.I245M NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) TTAAGTTGTTGATGGTGATGT 0.483000 13 202 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10209920 10209920 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr17:10209920C>G ENST00000418404.3 - 36 5485 c.5322G>C c.(5320-5322)aaG>aaC p.K1774N RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.K1774N Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1774 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CCTGTTCCTTCTTTAGCTCCT 0.577000 23 56 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84636119 84636119 + Splice_Site SNP T T C TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:84636119T>C ENST00000284136.6 - 16 1950 c.1907A>G c.(1906-1908)gAg>gGg p.E636G SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 636 Ig-like C2-type. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 ACAGCTTACCTCCTCTCGATG 0.373000 48 155 0 0 1 0 0 PGK1 5230 broad.mit.edu 37 X 77373556 77373556 + Missense_Mutation SNP T T A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:77373556T>A ENST00000373316.4 + 6 697 c.530T>A c.(529-531)gTa>gAa p.V177E PGK1_ENST00000537456.1_Missense_Mutation_p.V149E|PGK1_ENST00000442431.1_Intron NM_000291.3 NP_000282.1 P00558 PGK1_HUMAN phosphoglycerate kinase 1 177 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 24 AGCTCCATGGTAGGAGTCAAT 0.468000 14 50 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70608902 70608902 + Missense_Mutation SNP C C A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr6:70608902C>A ENST00000322773.4 + 3 256 c.154C>A c.(154-156)Ctt>Att p.L52I NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 52 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CATAAACAAACTTGAAGTTTC 0.313000 21 62 1.42536e-11 1.53704e-11 1 1 0 KIAA1524 57650 broad.mit.edu 37 3 108308158 108308158 + Missense_Mutation SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr3:108308158G>A ENST00000295746.8 - 1 141 c.65C>T c.(64-66)tCa>tTa p.S22L KIAA1524_ENST00000487834.1_5'UTR NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 22 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GTTCGCCTCTGACTTCACGGC 0.582000 8 35 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325695 79325695 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr9:79325695C>T ENST00000428286.1 - 8 1618 c.418G>A c.(418-420)Gca>Aca p.A140T PRUNE2_ENST00000376718.3_Missense_Mutation_p.A499T Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 499 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GCCATGGGTGCTGGGTCAAAA 0.557000 5 17 0 0 1 0 0 TRIP13 9319 broad.mit.edu 37 5 916041 916041 + Missense_Mutation SNP C C T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr5:916041C>T ENST00000166345.3 + 12 1512 c.1156C>T c.(1156-1158)Cgg>Tgg p.R386W TRIP13_ENST00000510412.1_3'UTR NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 386 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) CCTCAGCGGCCGGGTCCTGAG 0.537000 36 94 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135453571 135453571 + Missense_Mutation SNP T T G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chrX:135453571T>G ENST00000394143.1 + 14 7772 c.7481T>G c.(7480-7482)gTt>gGt p.V2494G GPR112_ENST00000370652.1_Missense_Mutation_p.V2494G|GPR112_ENST00000412101.1_Missense_Mutation_p.V2289G|GPR112_ENST00000287534.4_Missense_Mutation_p.V2292G|GPR112_ENST00000394141.1_Missense_Mutation_p.V2289G NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2494 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AAGATTATTGTTTCTAAAATA 0.323000 25 42 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22161405 22161405 + Missense_Mutation SNP G G T TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr1:22161405G>T ENST00000374695.3 - 77 10566 c.10487C>A c.(10486-10488)tCt>tAt p.S3496Y NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3496 Ig-like C2-type 21. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGTCTGCACAGAGGTCCGGAT 0.637000 12 31 0.000151284 0.000155592 1 1 0 CCDC81 60494 broad.mit.edu 37 11 86111823 86111823 + Silent SNP G G A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr11:86111823G>A ENST00000278487.3 + 7 1289 c.210G>A c.(208-210)ggG>ggA p.G70G CCDC81_ENST00000528728.1_Silent_p.G70G|CCDC81_ENST00000354755.1_Silent_p.G197G|CCDC81_ENST00000445632.2_Silent_p.G287G Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 287 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) AGAGTGGTGGGAAGATTATGA 0.393000 27 61 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1057623 1057624 + Frame_Shift_Ins INS - - A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr5:1057623_1057624insA ENST00000264930.5 - 22 3031_3032 c.2988_2989insT c.(2986-2991)accagcfs p.S997fs NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 997 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CCAGATAGGCTGGTGTCTCTGC 0.619 37 95 --- --- --- --- POR 5447 broad.mit.edu 37 7 75615257 75615272 + Frame_Shift_Del DEL GACGCTGCTGTACTAC GACGCTGCTGTACTAC - TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr7:75615257_75615272delGACGCTGCTGTACTAC ENST00000394893.1 + 14 1706_1721 c.1686_1701delGACGCTGCTGTACTAC c.(1684-1701)gagacgctgctgtactacfs p.ETLLYY562fs POR_ENST00000439269.1_Frame_Shift_Del_p.ETLLYY300fs|POR_ENST00000545601.1_Frame_Shift_Del_p.ETLLYY370fs|POR_ENST00000450476.1_Frame_Shift_Del_p.ETLLYY461fs|POR_ENST00000461988.1_Frame_Shift_Del_p.ETLLYY562fs|POR_ENST00000419840.1_Intron P16435 NCPR_HUMAN P450 (cytochrome) oxidoreductase 559 cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1) 9 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) AGGTGGGGGAGACGCTGCTGTACTACGGCTGCCGCC 0.704 2 4 --- --- --- --- ADCY4 196883 broad.mit.edu 37 14 24793385 24793385 + Frame_Shift_Del DEL G G - TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr14:24793385delG ENST00000310677.4 - 17 2042 c.1929delC c.(1927-1929)cccfs p.P643fs ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P643fs|ADCY4_ENST00000396747.3_Frame_Shift_Del_p.P336fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P643fs NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 643 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GCAGCATCTTGGGGCCTTTCA 0.617 7 14 --- --- --- --- ALPK2 115701 broad.mit.edu 37 18 56246940 56246941 + Frame_Shift_Ins INS - - A TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr18:56246940_56246941insA ENST00000361673.3 - 4 1280_1281 c.1067_1068insT c.(1066-1068)ttafs p.L356fs NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 356 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CGCTTTCTAATAAAAAAACATG 0.480 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 61 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62f8e164-aaa1-41ff-8144-907daa8f629a 520341c0-cca5-4824-828a-a809e019d2a7 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-147)aaatatfs p.KY48fs FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 9 117 --- --- --- ---