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 APOB 338 broad.mit.edu 37 2 21228981 21228981 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:21228981C>T ENST00000233242.1 - 26 10886 c.10759G>A c.(10759-10761)Gcc>Acc p.A3587T NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3587 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) TCCAGGGTGGCTTTGCTTGTA 0.502000 14 93 0 0 1 0 0 SIAH3 283514 broad.mit.edu 37 13 46357982 46357982 + Missense_Mutation SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr13:46357982A>G ENST00000400405.2 - 2 452 c.346T>C c.(346-348)Tgg>Cgg p.W116R NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 116 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 CGGCCTTCCCACTGGCAGGAG 0.667000 9 96 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11022970 11022970 + Silent SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr5:11022970C>G ENST00000304623.8 - 17 3099 c.2910G>C c.(2908-2910)gtG>gtC p.V970V CTNND2_ENST00000511377.1_Silent_p.V879V|CTNND2_ENST00000503622.1_Silent_p.V633V|CTNND2_ENST00000458100.2_Silent_p.V537V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.V912V NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 970 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TCTTGGTAATCACTTCGTGCA 0.517000 8 152 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69692180 69692180 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr4:69692180G>A ENST00000265403.7 + 4 1079 c.1052G>A c.(1051-1053)cGa>cAa p.R351Q UGT2B10_ENST00000458688.2_Missense_Mutation_p.R267Q NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 351 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 CTCAATACTCGACTGTACAAG 0.383000 6 170 0 0 1 0 0 ADAM33 80332 broad.mit.edu 37 20 3654462 3654462 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr20:3654462G>A ENST00000356518.2 - 9 1076 c.835C>T c.(835-837)Ctc>Ttc p.L279F ADAM33_ENST00000379861.4_Missense_Mutation_p.L279F|ADAM33_ENST00000350009.2_Missense_Mutation_p.L279F NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 279 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 AAGGCCCAGAGCGTGGCGTTG 0.721000 5 7 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5462044 5462044 + Missense_Mutation SNP G G C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr5:5462044G>C ENST00000296564.7 + 13 2819 c.2597G>C c.(2596-2598)aGa>aCa p.R866T NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 866 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AAACAGACAAGACCTGAAAAG 0.418000 48 111 0 0 1 0 0 RCHY1 25898 broad.mit.edu 37 4 76439452 76439452 + Splice_Site SNP T T G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr4:76439452T>G ENST00000512706.1 - 1 188 c.24_splice c.e1+1 p.E8_splice RCHY1_ENST00000514021.1_Intron|RCHY1_ENST00000451788.1_Silent_p.R15R|RCHY1_ENST00000324439.5_Silent_p.R15R|RCHY1_ENST00000513257.1_Silent_p.R15R|RCHY1_ENST00000380840.2_Silent_p.R15R Q96PM5 ZN363_HUMAN ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase 30 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nuclear speck|ubiquitin ligase complex electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|pancreas(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CCCGCTGACCTCGCTCTTGAC 0.617000 6 66 0 0 1 0 0 DCAF17 80067 broad.mit.edu 37 2 172305291 172305291 + Missense_Mutation SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:172305291T>C ENST00000375255.3 + 4 749 c.422T>C c.(421-423)cTt>cCt p.L141P DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.L141P NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 141 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 GGAAAAATCCTTGAGAAAATA 0.333000 66 229 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 6 117 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140871102 140871102 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr5:140871102G>A ENST00000252087.1 + 1 2295 c.2295G>A c.(2293-2295)cgG>cgA p.R765R PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 765 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACGCTGCGGCCCACAGACT 0.617000 18 52 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156723768 156723768 + Missense_Mutation SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr5:156723768T>C ENST00000347377.6 + 5 804 c.373T>C c.(373-375)Ttc>Ctc p.F125L CYFIP2_ENST00000541131.1_Missense_Mutation_p.F50L|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Missense_Mutation_p.F99L|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.F125L|CYFIP2_ENST00000318218.6_Missense_Mutation_p.F125L NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 125 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCTCATGAAGTTCATGTATTT 0.517000 28 52 0 0 1 0 0 SLC29A2 3177 broad.mit.edu 37 11 66136979 66136979 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:66136979C>T ENST00000357440.2 - 3 364 c.136G>A c.(136-138)Gcc>Acc p.A46T SLC29A2_ENST00000311161.7_Missense_Mutation_p.A46T|SLC29A2_ENST00000546034.1_Missense_Mutation_p.A46T|SLC29A2_ENST00000544554.1_Missense_Mutation_p.A46T NM_001532.2 NP_001523.2 Q14542 S29A2_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 2 46 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 CTGTTGCCGGCCCCGGCCAGT 0.642000 33 550 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153184627 153184627 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chrX:153184627G>A ENST00000370028.3 - 7 969 c.912C>T c.(910-912)gaC>gaT p.D304D ARHGAP4_ENST00000370016.1_Silent_p.D243D|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000350060.5_Silent_p.D264D|ARHGAP4_ENST00000537206.1_Silent_p.D241D NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 264 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGTCCAAGACGTCATGCAGGT 0.567000 52 79 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127622436 127622436 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr5:127622436C>T ENST00000508053.1 - 61 7960 c.6986G>A c.(6985-6987)cGa>cAa p.R2329Q FBN2_ENST00000262464.4_Missense_Mutation_p.R2329Q P35556 FBN2_HUMAN fibrillin 2 2329 EGF-like 39; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.R2329Q(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ATCGGGCCTTCGGGCCATTCC 0.512000 7 51 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10470230 10470230 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr8:10470230C>T ENST00000382483.3 - 4 1601 c.1378G>A c.(1378-1380)Ggc>Agc p.G460S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 460 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCGGGGAGGCCGGTGCTGGAG 0.726000 5 68 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134896129 134896129 + Silent SNP T T G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr10:134896129T>G ENST00000607359.1 + 6 1215 c.1215T>G c.(1213-1215)tcT>tcG p.S405S Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) AGAAGGTATCTGAGGCCCAGC 0.582000 4 27 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105359965 105359965 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr14:105359965G>A ENST00000453495.1 + 15 4480 c.4252G>A c.(4252-4254)Gcc>Acc p.A1418T CEP170B_ENST00000418279.1_Missense_Mutation_p.A1312T|CEP170B_ENST00000414716.3_Missense_Mutation_p.A1382T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A1347T centrosomal protein 170B CTGTGAGGACGCCCTGGCCAA 0.677000 3 24 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51914710 51914710 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr15:51914710G>A ENST00000251076.5 - 1 320 c.33C>T c.(31-33)gtC>gtT p.V11V DMXL2_ENST00000449909.3_Silent_p.V11V|DMXL2_ENST00000543779.2_Silent_p.V11V NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 11 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CTCCAGGGTTGACAGCTCCGG 0.677000 3 7 0 0 1 0 0 CACNG8 59283 broad.mit.edu 37 19 54485394 54485394 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr19:54485394C>T ENST00000270458.2 + 4 672 c.569C>T c.(568-570)cCg>cTg p.P190L NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 190 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) GAGCCGGGCCCGAAGCGGGAC 0.657000 6 26 0 0 1 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840240 1840240 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:1840240G>A ENST00000331238.5 - 2 894 c.876C>T c.(874-876)gaC>gaT p.D292D NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 292 LRRCT. axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 GCAGCTTCAGGTCCTGGCCGT 0.692000 9 25 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45224886 45224886 + Missense_Mutation SNP A A T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr20:45224886A>T ENST00000279027.4 - 5 722 c.704T>A c.(703-705)cTc>cAc p.L235H SLC13A3_ENST00000495082.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000290317.5_Missense_Mutation_p.L188H|SLC13A3_ENST00000472148.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000413164.2_Missense_Mutation_p.S213T|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000396360.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000372121.1_Missense_Mutation_p.S213T NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 235 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) GATGGAGATGAGGAAGCCCTT 0.567000 26 73 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8789598 8789598 + Silent SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:8789598G>T ENST00000447110.1 - 14 2200 c.2076C>A c.(2074-2076)atC>atA p.I692I PIK3R5_ENST00000581552.1_Silent_p.I692I|PIK3R5_ENST00000584803.1_Silent_p.I691I NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 692 Interaction with G beta gamma proteins (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CCAAGGAGTGGATGAAGATCT 0.607000 15 34 1.3612e-06 1.44329e-06 1 1 0 ZFAT 57623 broad.mit.edu 37 8 135614102 135614102 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr8:135614102G>A ENST00000520727.1 - 7 2123 c.1824C>T c.(1822-1824)caC>caT p.H608H ZFAT_ENST00000377838.3_Silent_p.H620H|ZFAT_ENST00000523399.1_Silent_p.H558H|ZFAT_ENST00000520356.1_Silent_p.H608H|ZFAT_ENST00000520214.1_Silent_p.H608H|ZFAT_ENST00000429442.2_Silent_p.H608H NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 620 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTGAGCTTCTGTGCTGCATGT 0.537000 37 118 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059008 248059008 + Silent SNP A A C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr1:248059008A>C ENST00000537741.1 + 3 377 c.120A>C c.(118-120)gtA>gtC p.V40V OR2W3_ENST00000360358.3_Silent_p.V40V Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGACCCTCGTAGGCAACACCA 0.572000 91 167 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77386244 77386244 + Silent SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:77386244C>T ENST00000308488.6 - 14 3701 c.3399G>A c.(3397-3399)ccG>ccA p.P1133P RSF1_ENST00000480887.1_Silent_p.P881P|RSF1_ENST00000360355.2_Silent_p.P1102P Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1133 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CATTAGATGGCGGATCTTCTT 0.448000 38 36 0 0 1 0 0 LOC101243545 101243545 broad.mit.edu 37 3 161146958 161146958 + RNA SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr3:161146958T>C ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 AGCATCGTAATCAGGAGCCAG 0.403000 4 206 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 154996991 154996991 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:154996991G>A ENST00000392825.3 + 4 851 c.284G>A c.(283-285)aGa>aAa p.R95K GALNT13_ENST00000409237.1_Missense_Mutation_p.R95K NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 95 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GCCCTTAATAGAAGTCTGCCA 0.328000 24 97 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 67 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152832197 152832197 + Silent SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr6:152832197G>T ENST00000367255.5 - 7 952 c.351C>A c.(349-351)ggC>ggA p.G117G SYNE1_ENST00000448038.1_Silent_p.G124G|SYNE1_ENST00000423061.1_Silent_p.G124G|SYNE1_ENST00000341594.5_Silent_p.G117G|SYNE1_ENST00000367248.3_Silent_p.G124G|SYNE1_ENST00000265368.4_Silent_p.G117G|SYNE1_ENST00000413186.2_Silent_p.G117G|SYNE1_ENST00000367253.4_Silent_p.G117G|SYNE1_ENST00000466159.2_Silent_p.G117G NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 117 Actin-binding.|CH 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTGAGGGTCGGCCATCAGCTA 0.348000 HNSCC(10;0.0054) 5 186 0.0215528 0.021759 1 1 0 INSIG1 3638 broad.mit.edu 37 7 155093399 155093399 + Splice_Site SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr7:155093399C>T ENST00000340368.4 + 3 747 c.537_splice c.e3+1 p.A179_splice INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Intron NM_005542.4 NP_005533.2 O15503 INSI1_HUMAN insulin induced gene 1 179 cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 19 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CACGCCAGTGCTGTATCCTTA 0.403000 30 163 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43233953 43233953 + Missense_Mutation SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr19:43233953T>C ENST00000327495.5 - 4 1149 c.965A>G c.(964-966)tAc>tGc p.Y322C PSG3_ENST00000595140.1_Missense_Mutation_p.Y322C NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 322 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GGTGACTGGGTAACTGCGGAT 0.493000 59 168 0 0 1 0 0 MOGS 7841 broad.mit.edu 37 2 74689354 74689354 + Missense_Mutation SNP T T G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:74689354T>G ENST00000233616.4 - 4 1724 c.1562A>C c.(1561-1563)cAt>cCt p.H521P MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.H415P NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 521 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 CTCTAGCATATGGGCTACAGG 0.602000 11 94 0 0 1 0 0 TMX4 56255 broad.mit.edu 37 20 7964485 7964485 + Missense_Mutation SNP T T G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr20:7964485T>G ENST00000246024.2 - 7 850 c.635A>C c.(634-636)gAa>gCa p.E212A NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 212 cell redox homeostasis|electron transport chain|transport integral to membrane endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 ATAGAAACATTCTGATATTAC 0.388000 21 58 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 25 84 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176637097 176637097 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr5:176637097G>A ENST00000439151.2 + 5 1742 c.1697G>A c.(1696-1698)gGa>gAa p.G566E NSD1_ENST00000354179.4_Missense_Mutation_p.G297E|NSD1_ENST00000361032.4_Missense_Mutation_p.G463E|NSD1_ENST00000347982.4_Missense_Mutation_p.G297E NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 566 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) ACTGCCCCAGGAAGTTTTCTG 0.438000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 11 73 0 0 1 0 0 C2CD4B 388125 broad.mit.edu 37 15 62456205 62456205 + Missense_Mutation SNP C C A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr15:62456205C>A ENST00000380392.3 - 2 1107 c.979G>T c.(979-981)Gac>Tac p.D327Y NM_001007595.2 NP_001007596.2 A6NLJ0 C2C4B_HUMAN C2 calcium-dependent domain containing 4B 327 C2. nucleus skin(1) 1 CGCACCTCGTCTTCCGAGAGG 0.726000 6 15 8.12818e-05 8.53257e-05 1 1 0 CC2D2A 57545 broad.mit.edu 37 4 15529187 15529187 + Nonsense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr4:15529187C>T ENST00000424120.1 + 12 1521 c.1267C>T c.(1267-1269)Cga>Tga p.R423* CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.R374*|CC2D2A_ENST00000503292.1_Nonsense_Mutation_p.R423*|CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.R423* Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 423 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 CTGTTTTAGCCGAGAGCATGT 0.443000 7 22 0 0 1 0 0 FKBP14 55033 broad.mit.edu 37 7 30066235 30066235 + Translation_Start_Site SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr7:30066235G>T ENST00000222803.5 - 0 65 NM_017946.3 NP_060416.1 Q9NWM8 FKB14_HUMAN FK506 binding protein 14, 22 kDa protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|large_intestine(2)|lung(2) 5 GACAAGTTCAGGACTCCCCCT 0.473000 5 9 0.014758 0.0149708 1 1 0 PCDHB13 56123 broad.mit.edu 37 5 140594564 140594564 + Missense_Mutation SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr5:140594564G>T ENST00000341948.4 + 1 1056 c.869G>T c.(868-870)gGc>gTc p.G290V NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 290 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAGAGATTGGCAAAACCTTT 0.418000 64 104 1.31171e-36 1.52071e-36 1 1 0 ZNF525 170958 broad.mit.edu 37 19 53884803 53884803 + Missense_Mutation SNP A A T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr19:53884803A>T ENST00000467003.1 + 4 1064 c.863A>T c.(862-864)gAg>gTg p.E288V ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.E324V|ZNF525_ENST00000355326.3_Missense_Mutation_p.E42V zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 CATACTGGAGAGAAACCACAT 0.403000 25 72 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43242949 43242949 + Silent SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr19:43242949G>T ENST00000327495.5 - 2 541 c.357C>A c.(355-357)tcC>tcA p.S119S PSG3_ENST00000595140.1_Silent_p.S119S|PSG3_ENST00000490592.1_5'UTR NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 119 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GTAAGGTGTAGGATCCTGCGT 0.478000 9 588 5.4927e-09 5.91306e-09 1 1 0 IGKV3D-20 28874 broad.mit.edu 37 2 90078112 90078112 + RNA SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:90078112G>A ENST00000390270.2 + 0 246 CAGAGTGTTAGCAGCAGCTAC 0.587000 13 139 0 0 1 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919351 142919351 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr7:142919351G>A ENST00000408947.3 + 1 222 c.180G>A c.(178-180)atG>atA p.M60I AC073342.1_ENST00000595842.1_Missense_Mutation_p.H4Y NM_176882.1 NP_795363.1 P59535 T2R40_HUMAN taste receptor, type 2, member 40 60 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) ACCGCATTATGTTGATGCTGA 0.488000 37 85 0 0 1 0 0 SENP6 26054 broad.mit.edu 37 6 76333615 76333615 + Splice_Site SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr6:76333615G>A ENST00000370014.3 + 3 765 c.e3-1 SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site|SENP6_ENST00000447266.2_Splice_Site NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) TTTCTGTGTAGTGGGACAAAT 0.333000 12 52 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94485948 94485948 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr9:94485948G>A ENST00000375708.3 - 9 3026 c.2828C>T c.(2827-2829)gCt>gTt p.A943V ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 943 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TGCCACTCAAGCTTCCAGCTG 0.612000 15 79 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20833114 20833114 + Missense_Mutation SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr12:20833114C>G ENST00000359062.3 + 16 3375 c.3335C>G c.(3334-3336)tCt>tGt p.S1112C PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 1112 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CAGTCGCACTCTTCAGAACAG 0.478000 25 145 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27950061 27950061 + Silent SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr9:27950061G>T ENST00000379992.2 - 6 1058 c.609C>A c.(607-609)ctC>ctA p.L203L LINGO2_ENST00000308675.3_Silent_p.L203L NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 203 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GCAGGCTGATGAGGCTGCGGA 0.478000 19 44 2.35188e-11 2.59815e-11 1 1 0 SRRM4 84530 broad.mit.edu 37 12 119583316 119583316 + Nonsense_Mutation SNP C C A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr12:119583316C>A ENST00000267260.4 + 9 1290 c.902C>A c.(901-903)tCa>tAa p.S301* NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 301 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CAAACCAGCTCAGCCAGGTCT 0.612000 9 28 0.000274275 0.000285084 1 1 0 RPTN 126638 broad.mit.edu 37 1 152128693 152128693 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr1:152128693G>A ENST00000316073.3 - 3 946 c.882C>T c.(880-882)caC>caT p.H294H NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 294 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCTGACCGTAGTGGGAACTCT 0.498000 187 548 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47663601 47663601 + Missense_Mutation SNP A A C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr21:47663601A>C ENST00000397708.1 - 25 5328 c.5074T>G c.(5074-5076)Tac>Gac p.Y1692D MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Y1692D|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1692 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TGGGAGGCGTACTGGACAACC 0.547000 11 51 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65350190 65350190 + Missense_Mutation SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr5:65350190G>T ENST00000284037.5 + 21 3433 c.3044G>T c.(3043-3045)aGc>aTc p.S1015I ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1011I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1015I NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 1015 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) AGATCAGAGAGCACAGAAAAT 0.398000 19 37 1.33834e-09 1.44815e-09 1 1 0 RBM14 10432 broad.mit.edu 37 11 66392848 66392848 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:66392848G>A ENST00000310137.4 + 2 1640 c.1501G>A c.(1501-1503)Gca>Aca p.A501T RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 501 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 CTATGGTGCCGCAGCAGCCTA 0.622000 5 304 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11422597 11422597 + RNA SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr12:11422597G>A ENST00000381842.3 - 0 44 PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) AGCAGAATCAGTAGCATCTTG 0.542000 43 60 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 5934609 5934609 + Silent SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr1:5934609G>T ENST00000378156.4 - 22 3418 c.3153C>A c.(3151-3153)ctC>ctA p.L1051L NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 1051 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) GGCGCAGGTAGAGCTGGGGGG 0.657000 5 17 0.184627 0.185506 1 1 0 C9orf3 84909 broad.mit.edu 37 9 97718211 97718211 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr9:97718211C>T ENST00000375315.2 + 8 1786 c.1786C>T c.(1786-1788)Ctt>Ttt p.L596F C9orf3_ENST00000297979.5_Missense_Mutation_p.L497F NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 596 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) TCTTCGGTTTCTTGCCAAAAG 0.373000 39 132 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397154 125397154 + Silent SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr12:125397154C>G ENST00000536769.1 - 1 2740 c.1164G>C c.(1162-1164)ctG>ctC p.L388L UBC_ENST00000546120.1_Silent_p.L312L|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.L388L P0CG48 UBC_HUMAN ubiquitin C 388 Ubiquitin-like 6. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCTTACCAGTCAGGGTCTTCA 0.527000 13 298 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139611102 139611102 + Nonsense_Mutation SNP C C A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr8:139611102C>A ENST00000303045.6 - 61 4671 c.4225G>T c.(4225-4227)Gga>Tga p.G1409* COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Nonsense_Mutation_p.G1389* NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1409 Collagen-like 14.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGGCCTTTTCCACCAGGAGGT 0.577000 HNSCC(7;0.00092) 17 73 1.99824e-07 2.12943e-07 1 1 0 PCCA 5095 broad.mit.edu 37 13 100962097 100962097 + Missense_Mutation SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr13:100962097A>G ENST00000376285.1 + 16 1402 c.1364A>G c.(1363-1365)tAt>tGt p.Y455C PCCA_ENST00000376279.3_Missense_Mutation_p.Y455C|PCCA_ENST00000376286.4_Missense_Mutation_p.Y429C NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 455 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) CTAATCACATATGGCTCTGAT 0.289000 20 51 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129835643 129835643 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr6:129835643G>A ENST00000421865.2 + 64 9163 c.9114G>A c.(9112-9114)gaG>gaA p.E3038E NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 3038 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACCGCATTGAGCTCACAGTCG 0.517000 13 107 0 0 1 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67069049 67069049 + Missense_Mutation SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:67069049G>T ENST00000447274.2 + 13 2353 c.1178G>T c.(1177-1179)cGg>cTg p.R393L ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R130L|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R393L|ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R480L|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R393L Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 393 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GAGCCCCTCCGGGACGAGGAC 0.657000 5 236 0.014758 0.0149708 1 1 0 LGI1 9211 broad.mit.edu 37 10 95557169 95557169 + Missense_Mutation SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr10:95557169A>G ENST00000371418.4 + 8 1543 c.1283A>G c.(1282-1284)aAc>aGc p.N428S LGI1_ENST00000542308.1_Missense_Mutation_p.N380S|LGI1_ENST00000371413.3_Intron NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 428 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) GACATTCCTAACATGGAGGAT 0.413000 11 105 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38523656 38523656 + Missense_Mutation SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr5:38523656C>G ENST00000263409.4 - 5 588 c.426G>C c.(424-426)ttG>ttC p.L142F LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.L142F NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 142 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CAGACAAATTCAAGATCTCTG 0.343000 T PLAG1 salivary adenoma 62 109 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171693381 171693381 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:171693381C>T ENST00000358196.3 + 6 1176 c.626C>T c.(625-627)gCc>gTc p.A209V GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.A209V|GAD1_ENST00000344257.5_Missense_Mutation_p.A209V NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 209 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ACATCAACGGCCAATACCAAC 0.403000 39 79 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726627 63726627 + Missense_Mutation SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr7:63726627C>G ENST00000421025.1 + 5 885 c.616C>G c.(616-618)Cat>Gat p.H206D ZNF679_ENST00000255746.4_Missense_Mutation_p.H206D NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 TCAGATAATTCATACTAGGGA 0.348000 4 9 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55593237 55593237 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr19:55593237G>A ENST00000201647.6 + 9 927 c.871G>A c.(871-873)Ggc>Agc p.G291S EPS8L1_ENST00000245618.5_Missense_Mutation_p.G164S|EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000586329.1_Missense_Mutation_p.G273S|EPS8L1_ENST00000540810.1_Missense_Mutation_p.G227S|EPS8L1_ENST00000592824.1_3'UTR NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 291 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CCGGGAACGCGGCCGCAGGAG 0.672000 10 25 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209188978 209188978 + Missense_Mutation SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:209188978G>T ENST00000264380.4 + 18 2461 c.2303G>T c.(2302-2304)gGc>gTc p.G768V NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 768 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TTGGAACATGGCATTACTTTG 0.348000 59 160 4.09106e-26 4.66602e-26 1 1 0 LCA5L 150082 broad.mit.edu 37 21 40778134 40778134 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr21:40778134C>T ENST00000358268.2 - 10 2215 c.1687G>A c.(1687-1689)Gag>Aag p.E563K LCA5L_ENST00000380671.2_Missense_Mutation_p.E563K|LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.E563K O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 563 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) TCCATTTCCTCTCTGTTACTG 0.463000 13 107 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20929552 20929552 + Missense_Mutation SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr9:20929552G>T ENST00000380249.1 + 29 3638 c.3274G>T c.(3274-3276)Gct>Tct p.A1092S FOCAD_ENST00000605086.1_Missense_Mutation_p.A528S|FOCAD_ENST00000338382.6_Missense_Mutation_p.A1092S NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1092 integral to membrane binding CATGGGCCTTGCTTTAGGGAT 0.423000 36 88 5.04308e-16 5.66005e-16 1 1 0 COL18A1 80781 broad.mit.edu 37 21 46930061 46930061 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr21:46930061G>A ENST00000359759.4 + 39 4845 c.4824G>A c.(4822-4824)gcG>gcA p.A1608A COL18A1_ENST00000400337.2_Silent_p.A1193A|COL18A1_ENST00000355480.5_Silent_p.A1373A|SLC19A1_ENST00000567670.1_Intron P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1608 Nonhelical region 11 (NC11). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) TCCAGCAGGCGCGGGCCGTGG 0.736000 7 8 0 0 1 0 0 TBX22 50945 broad.mit.edu 37 X 79281235 79281235 + Missense_Mutation SNP C C A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chrX:79281235C>A ENST00000442340.1 + 5 722 c.232C>A c.(232-234)Cgc>Agc p.R78S TBX22_ENST00000373294.5_Missense_Mutation_p.R198S|TBX22_ENST00000373291.1_Missense_Mutation_p.R78S|TBX22_ENST00000373296.3_Missense_Mutation_p.R198S NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 198 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CAGCTTTGATCGCATGAAACT 0.527000 10 12 0.000442599 0.000457787 1 1 0 PAX5 5079 broad.mit.edu 37 9 36882055 36882055 + Missense_Mutation SNP G G C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr9:36882055G>C ENST00000358127.4 - 8 1032 c.958C>G c.(958-960)Ccc>Gcc p.P320A PAX5_ENST00000522003.1_Missense_Mutation_p.P212A|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.P277A|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.P320A|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.P277A|PAX5_ENST00000523145.1_Intron NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 320 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(22) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) CCAGCGGGGGGGACGTGTGGA 0.647000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 13 17 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117149100 117149100 + Silent SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr7:117149100A>G ENST00000003084.6 + 3 309 c.177A>G c.(175-177)agA>agG p.R59R CFTR_ENST00000454343.1_Silent_p.R59R NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 59 respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AATGGGATAGAGAGCTGGCTT 0.343000 Cystic Fibrosis 5 155 0 0 1 0 0 CPO 130749 broad.mit.edu 37 2 207825638 207825638 + Silent SNP C C A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:207825638C>A ENST00000272852.3 + 6 592 c.546C>A c.(544-546)ctC>ctA p.L182L NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 182 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) GGACGGATCTCAATCGAAATT 0.388000 52 180 3.84483e-29 4.40902e-29 1 1 0 TYRO3 7301 broad.mit.edu 37 15 41870397 41870397 + Nonsense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr15:41870397C>T ENST00000263798.3 + 19 2820 c.2596C>T c.(2596-2598)Cag>Tag p.Q866* TYRO3_ENST00000559066.1_Nonsense_Mutation_p.Q821* NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 866 integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGCAGAGCACCAGCCAGAGAG 0.632000 12 61 0 0 1 0 0 DHODH 1723 broad.mit.edu 37 16 72048493 72048493 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr16:72048493G>A ENST00000572887.1 + 3 533 c.356G>A c.(355-357)aGt>aAt p.S119N DHODH_ENST00000219240.4_Missense_Mutation_p.S119N|DHODH_ENST00000573922.1_3'UTR Q02127 PYRD_HUMAN dihydroorotate dehydrogenase (quinone) 119 'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1) 10 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) GAGATAGGAAGTGTGACTCCA 0.493000 19 55 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102545 168102545 + Missense_Mutation SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:168102545T>C ENST00000409195.1 + 9 4732 c.4643T>C c.(4642-4644)aTt>aCt p.I1548T XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I1548T|XIRP2_ENST00000409273.1_Missense_Mutation_p.I1326T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1373 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATAGAAATTATTGGCAAGAGC 0.368000 9 112 0 0 1 0 0 MTG2 26164 broad.mit.edu 37 20 60776031 60776031 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr20:60776031G>A ENST00000370823.3 + 7 1137 c.1119G>A c.(1117-1119)ttG>ttA p.L373L MTG2_ENST00000436421.2_Silent_p.L215L|MTG2_ENST00000536470.1_Silent_p.L145L NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 TGTCGGCGTTGACCGGCGAGA 0.627000 8 79 0 0 1 0 0 KLHL23 151230 broad.mit.edu 37 2 170598008 170598008 + Missense_Mutation SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:170598008A>G ENST00000392647.2 + 3 1571 c.1327A>G c.(1327-1329)Atc>Gtc p.I443V KLHL23_ENST00000272797.4_Missense_Mutation_p.I443V|KLHL23_ENST00000602521.1_5'UTR NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 443 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 CAATTCCGATATCAACGAATG 0.428000 37 133 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47559834 47559834 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr4:47559834C>T ENST00000273859.3 + 12 2247 c.1978C>T c.(1978-1980)Ctc>Ttc p.L660F AC092597.3_ENST00000508081.1_RNA NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 660 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TGTGAGCAGACTCCCTCTCTT 0.517000 29 108 0 0 1 0 0 HEXIM2 124790 broad.mit.edu 37 17 43246481 43246481 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:43246481G>A ENST00000307275.3 + 4 602 c.166G>A c.(166-168)Gaa>Aaa p.E56K RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E56K|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E56K NM_144608.1 NP_653209.1 Q96MH2 HEXI2_HUMAN hexamethylene bis-acetamide inducible 2 56 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding endometrium(1)|large_intestine(3)|lung(1) 5 CTCAGAGGATGAAGATCTTGC 0.672000 52 150 0 0 1 0 0 ZKSCAN8 7745 broad.mit.edu 37 6 28121663 28121663 + Silent SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr6:28121663A>G ENST00000330236.6 + 6 1789 c.1605A>G c.(1603-1605)caA>caG p.Q535Q ZKSCAN8_ENST00000457389.2_Silent_p.Q535Q NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2 NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2 zinc finger with KRAB and SCAN domains 8 GTCTCATTCAACACCTGAGAA 0.433000 9 89 0 0 1 0 0 ENOSF1 55556 broad.mit.edu 37 18 688598 688598 + Missense_Mutation SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr18:688598T>C ENST00000383578.3 - 8 587 c.383A>G c.(382-384)cAg>cGg p.Q128R ENOSF1_ENST00000340116.7_Missense_Mutation_p.Q231R|ENOSF1_ENST00000251101.7_Missense_Mutation_p.Q210R|ENOSF1_ENST00000580982.1_Missense_Mutation_p.Q134R NM_001126123.3 NP_001119595.1 Q7L5Y1 ENOF1_HUMAN enolase superfamily member 1 210 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 CTTCAGCGCCTGGGCACAGAG 0.562000 3 43 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043419 20043419 + Missense_Mutation SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr16:20043419T>C ENST00000570682.1 - 2 1000 c.700A>G c.(700-702)Acc>Gcc p.T234A NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 234 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 AAGATGGAGGTAATGGTGAAC 0.522000 30 97 0 0 1 0 0 NADSYN1 55191 broad.mit.edu 37 11 71164411 71164411 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:71164411G>A ENST00000319023.2 + 1 257 c.69G>A c.(67-69)ttG>ttA p.L23L NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 23 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AGGGCAATTTGCAAAGAATTT 0.672000 28 30 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74764516 74764516 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr9:74764516G>A ENST00000358399.3 + 1 134 c.41G>A c.(40-42)cGa>cAa p.R14Q GDA_ENST00000376989.3_5'UTR|GDA_ENST00000376986.1_5'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.R14Q|GDA_ENST00000545168.1_Intron NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 14 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) CACATCTTCCGAGGGACGTTC 0.701000 10 24 0 0 1 0 0 ZNF398 57541 broad.mit.edu 37 7 148876142 148876142 + Missense_Mutation SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr7:148876142C>G ENST00000420008.2 + 6 1453 c.665C>G c.(664-666)gCc>gGc p.A222G ZNF398_ENST00000426851.2_Missense_Mutation_p.A222G|ZNF398_ENST00000483892.1_Missense_Mutation_p.A222G|ZNF398_ENST00000475153.1_Missense_Mutation_p.A393G|ZNF398_ENST00000540950.1_Missense_Mutation_p.A398G|ZNF398_ENST00000335901.4_Missense_Mutation_p.A222G|ZNF398_ENST00000491174.1_Missense_Mutation_p.A222G NM_170686.2 NP_733787.1 Q8TD17 ZN398_HUMAN zinc finger protein 398 393 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) CAGGACCATGCCAGCGAGACA 0.577000 38 141 0 0 1 0 0 TBC1D3C 414060 broad.mit.edu 37 17 34587271 34587271 + Nonsense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:34587271G>A ENST00000336331.5 - 6 1237 c.484C>T c.(484-486)Cga>Tga p.R162* TBC1D3C_ENST00000308078.7_Nonsense_Mutation_p.R162*|TBC1D3C_ENST00000457979.3_Nonsense_Mutation_p.R162*|TBC1D3H_ENST00000400684.4_Intron|TBC1D3C_ENST00000451448.2_Nonsense_Mutation_p.R162*|TBC1D3H_ENST00000535446.1_Intron Q6IPX1 TBC3C_HUMAN TBC1 domain family, member 3C 162 Rab-GAP TBC. intracellular Rab GTPase activator activity kidney(5)|pancreas(1) 6 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTTCCGTATCGATCCCTGAAG 0.557000 126 699 0 0 1 0 0 ZNF594 84622 broad.mit.edu 37 17 5086290 5086290 + Missense_Mutation SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:5086290C>G ENST00000399604.4 - 1 1402 c.1262G>C c.(1261-1263)aGa>aCa p.R421T ZNF594_ENST00000575779.1_Missense_Mutation_p.R421T Q96JF6 ZN594_HUMAN zinc finger protein 594 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R421I(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TCTATGATGTCTCAGAAGGTC 0.403000 85 271 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8085846 8085846 + Missense_Mutation SNP A A T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr18:8085846A>T ENST00000332175.8 + 10 2766 c.1729A>T c.(1729-1731)Aac>Tac p.N577Y PTPRM_ENST00000444013.1_Missense_Mutation_p.N364Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.N515Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.N577Y|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400060.4_Missense_Mutation_p.N577Y NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 577 Fibronectin type-III 3. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) TCCAGCAACAAACCAGTTCAC 0.418000 4 107 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897038 175897038 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr4:175897038G>A ENST00000359240.3 + 5 1032 c.362G>A c.(361-363)gGg>gAg p.G121E ADAM29_ENST00000445694.1_Missense_Mutation_p.G121E|ADAM29_ENST00000514159.1_Missense_Mutation_p.G121E|ADAM29_ENST00000404450.4_Missense_Mutation_p.G121E NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 121 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ACCTGTTTTGGGGGTTTTCAA 0.428000 57 133 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165555991 165555991 + Silent SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:165555991T>C ENST00000375458.2 - 10 1700 c.1479A>G c.(1477-1479)gtA>gtG p.V493V COBLL1_ENST00000194871.6_Silent_p.V598V|COBLL1_ENST00000342193.4_Silent_p.V532V|COBLL1_ENST00000409184.3_Silent_p.V531V|COBLL1_ENST00000392717.2_Silent_p.V570V NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 570 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 TTGTATCATATACTACACTGT 0.373000 48 164 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23902406 23902406 + Nonsense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr14:23902406G>A ENST00000355349.3 - 4 394 c.232C>T c.(232-234)Cag>Tag p.Q78* NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 78 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGGTTCTGCTGCATCACCTGG 0.587000 28 83 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 82 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80744748 80744748 + Missense_Mutation SNP A A T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr6:80744748A>T ENST00000509894.1 + 15 2487 c.1658A>T c.(1657-1659)tAt>tTt p.Y553F TTK_ENST00000369798.2_Missense_Mutation_p.Y554F|TTK_ENST00000230510.3_Missense_Mutation_p.Y553F P33981 TTK_HUMAN TTK protein kinase 554 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) GCTATAAAATATGTGAACTTA 0.308000 37 132 0 0 1 0 0 HBG2 3048 broad.mit.edu 37 11 5275545 5275545 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:5275545G>A ENST00000380259.2 - 7 1532 c.292C>T c.(292-294)Cat>Tat p.H98Y HBG2_ENST00000336906.4_Missense_Mutation_p.H98Y|HBG2_ENST00000380252.1_Missense_Mutation_p.H88Y hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGATCCACATGCAGCTTGTCA 0.498000 29 256 0 0 1 0 0 PROCA1 147011 broad.mit.edu 37 17 27031202 27031202 + Nonsense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:27031202C>T ENST00000581289.1 - 2 206 c.120G>A c.(118-120)tgG>tgA p.W40* PROCA1_ENST00000301039.2_Missense_Mutation_p.A129T|PROCA1_ENST00000439862.3_Missense_Mutation_p.A131T|PROCA1_ENST00000579650.1_5'UTR Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 0 lipid catabolic process calcium ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) TGGATCACTGCCACAGAGACA 0.562000 36 79 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50530982 50530982 + Missense_Mutation SNP C C A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr10:50530982C>A ENST00000374144.3 + 3 680 c.392C>A c.(391-393)tCc>tAc p.S131Y C10orf71_ENST00000323868.4_Missense_Mutation_p.S131Y Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 131 endometrium(1) 1 GTGCCAGTTTCCGGCCTAAGG 0.537000 14 92 0.00316338 0.00325597 1 1 0 CDK5 1020 broad.mit.edu 37 7 150754047 150754047 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr7:150754047C>T ENST00000485972.1 - 3 823 c.142G>A c.(142-144)Gcc>Acc p.A48T CDK5_ENST00000297518.4_Missense_Mutation_p.A48T NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 48 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity p.A48T(1) central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) TCCCGGAGGGCGGAACTCGGC 0.662000 18 58 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18846140 18846140 + RNA SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr22:18846140T>C ENST00000412938.1 + 0 3498 TAGGGCACCTTGGACCTCTCT 0.617000 8 32 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11892651 11892651 + Missense_Mutation SNP A A G rs138221659 TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr19:11892651A>G ENST00000357901.4 + 4 2114 c.2012A>G c.(2011-2013)tAt>tGt p.Y671C ZNF441_ENST00000454339.2_Missense_Mutation_p.Y604C NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 671 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GAGAAACCCTATAAGTGTAAA 0.398000 31 65 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149191090 149191090 + Silent SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr7:149191090C>T ENST00000461958.2 - 3 592 c.396G>A c.(394-396)ctG>ctA p.L132L ZNF746_ENST00000458143.2_Silent_p.L132L|ZNF746_ENST00000340622.3_Silent_p.L132L Q6NUN9 ZN746_HUMAN zinc finger protein 746 132 KRAB. negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CCAGGGAGACCAGCGTCTCGT 0.502000 40 118 0 0 1 0 0 ZRANB2 9406 broad.mit.edu 37 1 71532495 71532495 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr1:71532495C>T ENST00000370920.3 - 9 1194 c.893G>A c.(892-894)cGc>cAc p.R298H ZRANB2_ENST00000477096.1_5'UTR|ZRANB2-AS1_ENST00000426999.1_RNA|ZRANB2-AS1_ENST00000450461.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.R298H NM_203350.2 NP_976225.1 O95218 ZRAB2_HUMAN zinc finger, RAN-binding domain containing 2 298 Required for nuclear targeting. mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1) 15 TCTTTTTTTGCGATCACCAGA 0.388000 4 165 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121282323 121282323 + Nonsense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr8:121282323G>A ENST00000297848.3 + 26 3393 c.3123G>A c.(3121-3123)tgG>tgA p.W1041* COL14A1_ENST00000309791.4_Nonsense_Mutation_p.W1041*|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.W946* NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1041 VWFA 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ATGGATCCTGGAGCATTGGAG 0.428000 27 132 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170090032 170090032 + Missense_Mutation SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:170090032G>T ENST00000263816.3 - 30 5272 c.4987C>A c.(4987-4989)Cgt>Agt p.R1663S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1663 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATAACCCGACGAGTAGCACGG 0.493000 20 73 3.62473e-10 3.94236e-10 1 1 0 BPIFB2 80341 broad.mit.edu 37 20 31601626 31601626 + Missense_Mutation SNP C C A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr20:31601626C>A ENST00000170150.3 + 5 514 c.319C>A c.(319-321)Ccc>Acc p.P107T NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 107 extracellular region lipid binding CGCCCCAGAGCCCCTGGAGCT 0.612000 22 71 1.55795e-14 1.73929e-14 1 1 0 SFTPA2 729238 broad.mit.edu 37 10 81319204 81319204 + Silent SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr10:81319204C>T ENST00000372325.2 - 3 120 c.36G>A c.(34-36)ttG>ttA p.L12L SFTPA2_ENST00000372327.5_Silent_p.L12L NM_001098668.2 NP_001092138.1 Q8IWL1 SFPA2_HUMAN surfactant protein A2 12 L -> W. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding p.L12L(1) endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) AGGCTGCCATCAAGATGAGGG 0.652000 Pulmonary Fibrosis, Idiopathic 27 131 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18721646 18721646 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr9:18721646G>A ENST00000380548.4 + 15 2328 c.1989G>A c.(1987-1989)ttG>ttA p.L663L ADAMTSL1_ENST00000276935.6_Silent_p.L663L NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 663 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) CCTGCAATTTGGATCCCTGCC 0.592000 23 41 0 0 1 0 0 C14orf28 122525 broad.mit.edu 37 14 45373697 45373697 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr14:45373697G>A ENST00000325192.3 + 4 989 c.714G>A c.(712-714)gcG>gcA p.A238A C14orf28_ENST00000557112.1_Silent_p.A208A|RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000553841.1_3'UTR NM_001017923.1 NP_001017923.1 Q4W4Y0 CN028_HUMAN chromosome 14 open reading frame 28 238 endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2) 11 AAGATCTGGCGTATGTACCCT 0.348000 23 108 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922482 24922482 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr15:24922482G>A ENST00000329468.2 + 1 1942 c.1468G>A c.(1468-1470)Gca>Aca p.A490T NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AGTCGTAGGAGCAGCGCCTCT 0.517000 65 216 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185958709 185958709 + Silent SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr1:185958709T>C ENST00000271588.4 + 21 3367 c.3138T>C c.(3136-3138)agT>agC p.S1046S HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.S1046S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1046 Ig-like C2-type 7. 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 GAGAGGAGAGTGGGGAGTATG 0.488000 35 69 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41306562 41306562 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr20:41306562C>T ENST00000373198.3 - 7 1332 c.1097G>A c.(1096-1098)gGt>gAt p.G366D PTPRT_ENST00000373193.3_Missense_Mutation_p.G366D|PTPRT_ENST00000373190.1_Missense_Mutation_p.G366D|PTPRT_ENST00000356100.2_Missense_Mutation_p.G366D|PTPRT_ENST00000373201.1_Missense_Mutation_p.G366D|PTPRT_ENST00000373184.1_Missense_Mutation_p.G366D|PTPRT_ENST00000373187.1_Missense_Mutation_p.G366D NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 366 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.G366V(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ACCCCCCTCACCTGGTCGTGT 0.562000 7 139 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17688742 17688742 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr6:17688742G>A ENST00000262077.2 - 2 218 c.219C>T c.(217-219)agC>agT p.S73S NUP153_ENST00000537253.1_Silent_p.S73S NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 73 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GTGGAACCTCGCTTGTGTCTG 0.448000 43 114 0 0 1 0 0 HCAR2 338442 broad.mit.edu 37 12 123187644 123187644 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr12:123187644G>A ENST00000328880.5 - 1 246 c.187C>T c.(187-189)Cgg>Tgg p.R63W RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 63 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) AGGAAAATCCGGCTGGATTTC 0.537000 20 49 0 0 1 0 0 RP11-468E2.4 0 broad.mit.edu 37 14 24629157 24629157 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr14:24629157C>T ENST00000558468.1 + 11 1409 c.1409C>T c.(1408-1410)gCc>gTc p.A470V RNF31_ENST00000559275.1_Missense_Mutation_p.A844V|RNF31_ENST00000382687.3_Missense_Mutation_p.A844V|RNF31_ENST00000324103.6_Missense_Mutation_p.A995V GCTGGCTATGCCGGCCTGTGC 0.592000 4 123 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154396174 154396174 + Nonsense_Mutation SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr5:154396174G>T ENST00000435029.4 + 1 2915 c.2755G>T c.(2755-2757)Gag>Tag p.E919* NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 919 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTTACAAGCTGAGCTGGTCAG 0.468000 19 60 4.96729e-08 5.3203e-08 1 1 0 ADCY2 108 broad.mit.edu 37 5 7766898 7766898 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr5:7766898G>A ENST00000338316.4 + 17 2282 c.2193G>A c.(2191-2193)gcG>gcA p.A731A ADCY2_ENST00000537121.1_Silent_p.A551A NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 731 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|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TTCTGCGTGCGCAGAATTTAT 0.428000 6 373 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23603613 23603613 + Silent SNP C C A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr22:23603613C>A ENST00000305877.8 + 4 2389 c.1638C>A c.(1636-1638)atC>atA p.I546I BCR_ENST00000359540.3_Silent_p.I546I NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 546 DH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 TCGAGACCATCTTCTTCAAAG 0.592000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 78 85 5.02462e-34 5.79342e-34 1 1 0 UBC 7316 broad.mit.edu 37 12 125397148 125397148 + Silent SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr12:125397148A>G ENST00000536769.1 - 1 2746 c.1170T>C c.(1168-1170)ggT>ggC p.G390G UBC_ENST00000546120.1_Silent_p.G314G|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.G390G P0CG48 UBC_HUMAN ubiquitin C 390 Ubiquitin-like 6. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGATGGTCTTACCAGTCAGGG 0.532000 21 306 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209803174 209803174 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr1:209803174C>T ENST00000391911.1 - 9 1429 c.1040G>A c.(1039-1041)cGg>cAg p.R347Q LAMB3_ENST00000356082.4_Missense_Mutation_p.R347Q|LAMB3_ENST00000367030.3_Missense_Mutation_p.R347Q NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 347 Laminin EGF-like 2. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGTGTGGTCCCGGCAATTGTC 0.592000 5 178 0 0 1 0 0 FBXO3 26273 broad.mit.edu 37 11 33768700 33768700 + Silent SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:33768700T>C ENST00000530401.1 - 10 1220 c.1200A>G c.(1198-1200)acA>acG p.T400T FBXO3_ENST00000531080.1_Silent_p.T92T|FBXO3_ENST00000534136.1_Silent_p.T405T|FBXO3_ENST00000532057.1_Silent_p.T92T|FBXO3_ENST00000448981.2_Silent_p.T405T|FBXO3_ENST00000526785.1_Silent_p.T292T|FBXO3_ENST00000265651.3_Silent_p.T405T Q9UK99 FBX3_HUMAN F-box protein 3 405 ApaG. proteolysis nucleus ubiquitin-protein ligase activity NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) ACACCCTGAATGTTGGACATG 0.383000 26 56 0 0 1 0 0 SFTPA1 653509 broad.mit.edu 37 10 81371617 81371617 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr10:81371617G>A ENST00000398636.3 + 3 174 c.36G>A c.(34-36)ttG>ttA p.L12L SFTPA1_ENST00000419470.2_Silent_p.L27L|SFTPA1_ENST00000372308.3_Silent_p.L12L|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000428376.2_Silent_p.L12L NM_001164644.1|NM_001164646.1|NM_005411.4 NP_001158116.1|NP_001158118.1|NP_005402.3 Q8IWL2 SFTA1_HUMAN surfactant protein A1 12 cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) ACCTCATCTTGATGGCAGCCT 0.637000 14 172 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61986738 61986738 + Missense_Mutation SNP C C A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr13:61986738C>A ENST00000409186.1 - 5 3599 c.1494G>T c.(1492-1494)gaG>gaT p.E498D PCDH20_ENST00000409204.4_Missense_Mutation_p.E498D Q8N6Y1 PCD20_HUMAN protocadherin 20 471 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) ACTGCTGTAGCTCATAGTCCA 0.393000 42 145 2.24893e-16 2.53757e-16 1 1 0 AGTR1 185 broad.mit.edu 37 3 148459459 148459459 + Missense_Mutation SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr3:148459459A>G ENST00000542281.1 + 4 1083 c.637A>G c.(637-639)Aca>Gca p.T213A AGTR1_ENST00000349243.3_Missense_Mutation_p.T213A|AGTR1_ENST00000475347.1_Missense_Mutation_p.T213A|AGTR1_ENST00000404754.2_Missense_Mutation_p.T213A|AGTR1_ENST00000418473.2_Missense_Mutation_p.T213A|AGTR1_ENST00000474935.1_Missense_Mutation_p.T213A|AGTR1_ENST00000497524.1_Missense_Mutation_p.T213A|AGTR1_ENST00000461609.1_Missense_Mutation_p.T213A|AGTR1_ENST00000402260.1_Missense_Mutation_p.T213A NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 213 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) GATCATTCTTACAAGTTATAC 0.363000 4 102 0 0 1 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209953904 209953904 + Missense_Mutation SNP G G C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr1:209953904G>C ENST00000367024.1 + 15 1918 c.1402G>C c.(1402-1404)Gac>Cac p.D468H TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.D468H|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.D448H|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.D448H|TRAF3IP3_ENST00000477431.1_Intron Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 468 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) GGATCTCAGAGACCAGCTGCA 0.507000 60 78 0 0 1 0 0 ART4 420 broad.mit.edu 37 12 14994042 14994042 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr12:14994042C>T ENST00000228936.4 - 2 571 c.190G>A c.(190-192)Gat>Aat p.D64N RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron NM_021071.2 NP_066549.2 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 64 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 TGGTACTGATCATCAAAAGAA 0.358000 37 203 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129739989 129739989 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:129739989C>T ENST00000446488.3 - 23 3034 c.2931G>A c.(2929-2931)atG>atA p.M977I NFRKB_ENST00000524794.1_Missense_Mutation_p.M1002I|NFRKB_ENST00000304521.5_Missense_Mutation_p.M977I|NFRKB_ENST00000524746.1_Missense_Mutation_p.M977I NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 977 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) CCAATGTGGCCATCATGTCCG 0.557000 62 75 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 155026 155026 + RNA SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr4:155026C>G ENST00000510175.1 + 0 461 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) CACGTGCTCTCACGCCTAACT 0.333000 13 17 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77406606 77406606 + Silent SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr15:77406606C>G ENST00000560626.2 - 7 5608 c.5133G>C c.(5131-5133)ctG>ctC p.L1711L PEAK1_ENST00000312493.4_Silent_p.L1711L Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1711 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding CTTCCCTGTCCAGGGACTTCT 0.502000 40 92 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50376688 50376688 + Silent SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chrX:50376688A>G ENST00000376020.2 - 4 2410 c.2385T>C c.(2383-2385)caT>caC p.H795H SHROOM4_ENST00000289292.7_Silent_p.H795H|SHROOM4_ENST00000460112.3_Silent_p.H679H NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 795 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TCTTGTTGCTATGAGTGGTTA 0.453000 51 44 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184294876 184294876 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr3:184294876G>A ENST00000330394.2 + 5 1711 c.1259G>A c.(1258-1260)cGc>cAc p.R420H EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 420 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GCCCACACGCGCTACACCTTT 0.627000 10 104 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95603800 95603800 + Silent SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr12:95603800T>C ENST00000343958.4 - 2 1483 c.1260A>G c.(1258-1260)aaA>aaG p.K420K FGD6_ENST00000549499.1_Silent_p.K420K|FGD6_ENST00000546711.1_Silent_p.K420K NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 420 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 AATTAGAGTCTTTATCAAAAG 0.388000 53 132 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28146992 28146992 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr22:28146992C>T ENST00000302326.4 - 2 4828 c.3874G>A c.(3874-3876)Gcc>Acc p.A1292T MN1_ENST00000497225.1_5'UTR NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1292 binding p.A1292T(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 CGAGCCTTGGCGTCACCCACG 0.592000 T ETV6 """AML, meningioma""" 23 89 0 0 1 0 0 ZNF682 91120 broad.mit.edu 37 19 20117799 20117799 + Missense_Mutation SNP T T A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr19:20117799T>A ENST00000397165.2 - 4 672 c.512A>T c.(511-513)aAa>aTa p.K171I ZNF682_ENST00000597972.1_Missense_Mutation_p.K177I|ZNF682_ENST00000397162.1_Missense_Mutation_p.K139I|ZNF682_ENST00000358523.5_Missense_Mutation_p.K139I|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.K95I NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 TTTGAAAAGTTTCTCTGTAGT 0.313000 24 83 0 0 1 0 0 RFXAP 5994 broad.mit.edu 37 13 37401869 37401869 + Missense_Mutation SNP G G C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr13:37401869G>C ENST00000255476.2 + 3 932 c.798G>C c.(796-798)caG>caC p.Q266H RFXAP_ENST00000472888.1_3'UTR NM_000538.3 NP_000529.1 O00287 RFXAP_HUMAN regulatory factor X-associated protein 266 C-terminal domain. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405) GACAACAGCAGTTTCCAGGAA 0.343000 9 38 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117241008 117241008 + Missense_Mutation SNP G G T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr9:117241008G>T ENST00000362057.3 - 2 830 c.662C>A c.(661-663)gCa>gAa p.A221E DFNB31_ENST00000374057.3_Missense_Mutation_p.A221E|DFNB31_ENST00000265134.6_5'UTR NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 221 PDZ 1. 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 GATGCGCCCTGCTGAGTACAC 0.642000 6 27 0.000157383 0.000164395 1 1 0 DENND4A 10260 broad.mit.edu 37 15 65989607 65989607 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr15:65989607G>A ENST00000443035.3 - 21 3160 c.2945C>T c.(2944-2946)tCc>tTc p.S982F DENND4A_ENST00000431932.2_Missense_Mutation_p.S939F NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 939 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 ATACCTACAGGAACTACAATC 0.289000 5 46 0 0 1 0 0 GALK2 2585 broad.mit.edu 37 15 49531556 49531556 + Silent SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr15:49531556C>T ENST00000327171.3 + 5 695 c.463C>T c.(463-465)Cta>Tta p.L155L GALK2_ENST00000543495.1_Silent_p.L37L|GALK2_ENST00000396509.2_Silent_p.L142L|GALK2_ENST00000560031.1_Silent_p.L166L|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000559454.1_Silent_p.L142L|GALK2_ENST00000544523.1_Silent_p.L142L NM_001001556.1 NP_001001556.1 Q01415 GALK2_HUMAN galactokinase 2 166 galactose metabolic process cytoplasm ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 all_lung(180;0.000325) all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05) GGGAAGGAATCTATCCAAGGT 0.453000 20 39 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134023256 134023256 + Missense_Mutation SNP T T A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:134023256T>A ENST00000534548.2 - 33 4319 c.4255A>T c.(4255-4257)Agc>Tgc p.S1419C NCAPD3_ENST00000526787.2_5'UTR NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1419 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TCACTGATGCTCTCTGCATAA 0.552000 64 97 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57480848 57480848 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr1:57480848G>A ENST00000371236.2 - 12 1415 c.1152C>T c.(1150-1152)ctC>ctT p.L384L DAB1_ENST00000371234.4_Silent_p.L384L|DAB1_ENST00000420954.2_Silent_p.L382L|DAB1_ENST00000439789.2_Silent_p.L298L|DAB1_ENST00000371231.1_Silent_p.L417L|DAB1_ENST00000414851.2_Silent_p.L366L|DAB1_ENST00000485760.1_5'UTR O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 417 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CAAGGGGGGTGAGGGGACCTT 0.587000 36 79 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38475887 38475887 + Missense_Mutation SNP G G C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr7:38475887G>C ENST00000356264.2 - 12 1334 c.1119C>G c.(1117-1119)caC>caG p.H373Q AMPH_ENST00000325590.5_Missense_Mutation_p.H373Q|AMPH_ENST00000428293.2_Missense_Mutation_p.H373Q NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 373 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 ACATGGGTGAGTGGGTCACTC 0.468000 15 62 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798328 55798328 + Missense_Mutation SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:55798328T>C ENST00000313555.1 + 1 434 c.434T>C c.(433-435)aTt>aCt p.I145T NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GTCTGCTTCATTGTGTTGGCA 0.458000 48 100 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67225884 67225884 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:67225884C>T ENST00000438189.2 + 6 723 c.379C>T c.(379-381)Cgg>Tgg p.R127W CABP4_ENST00000325656.5_Missense_Mutation_p.R232W P57796 CABP4_HUMAN calcium binding protein 4 232 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GGCGGAGCTGCGGGAGGCGGT 0.642000 5 207 0 0 1 0 0 TAF15 8148 broad.mit.edu 37 17 34171794 34171794 + Missense_Mutation SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:34171794C>G ENST00000588240.1 + 15 1606 c.1491C>G c.(1489-1491)gaC>gaG p.D497E TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Missense_Mutation_p.D494E NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 497 21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) atggtggagaccgaggaggct 0.612000 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 6 33 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187443 12187443 + Missense_Mutation SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr19:12187443C>G ENST00000439326.3 + 4 1683 c.1508C>G c.(1507-1509)cCt>cGt p.P503R ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P503R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCCTATGAGTGTA 0.413000 4 107 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128844460 128844460 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:128844460G>A ENST00000310343.9 - 20 2589 c.2590C>T c.(2590-2592)Cca>Tca p.P864S ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P515S|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P515S|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.P790S NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 864 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 GTAAAGAATGGACTCAGTTTC 0.458000 24 121 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46979462 46979462 + Silent SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr4:46979462T>C ENST00000264318.3 - 4 1441 c.459A>G c.(457-459)agA>agG p.R153R NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 153 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCTCATAATTCTAAAAAGCT 0.313000 22 32 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79708071 79708071 + Missense_Mutation SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr6:79708071C>G ENST00000275034.4 - 18 2084 c.1917G>C c.(1915-1917)gaG>gaC p.E639D NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 639 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) GTGGGCTGATCTCCTGGTTTG 0.398000 39 110 0 0 1 0 0 RIC3 79608 broad.mit.edu 37 11 8132318 8132318 + Missense_Mutation SNP C C A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:8132318C>A ENST00000396677.2 - 3 550 c.551G>T c.(550-552)gGg>gTg p.G184V RIC3_ENST00000335425.7_Missense_Mutation_p.G164V|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000309737.6_Missense_Mutation_p.G346V|RIC3_ENST00000343202.4_Missense_Mutation_p.G345V|RIC3_ENST00000425599.2_Missense_Mutation_p.G265V|RIC3_ENST00000539720.1_Missense_Mutation_p.G297V Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 346 endoplasmic reticulum membrane|Golgi membrane|integral to membrane p.G345V(1) breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) GATGCCCAACCCTTCATCTTT 0.488000 42 113 1.15505e-17 1.3103e-17 1 1 0 PIGQ 9091 broad.mit.edu 37 16 624441 624441 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr16:624441G>A ENST00000321878.5 + 2 526 c.367G>A c.(367-369)Gag>Aag p.E123K PIGQ_ENST00000026218.5_Missense_Mutation_p.E123K|PIGQ_ENST00000409527.2_Missense_Mutation_p.E123K|PIGQ_ENST00000470411.2_Missense_Mutation_p.E123K NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 123 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) TGCCCCTGGTGAGGACCAGGT 0.687000 5 16 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19969065 19969065 + Missense_Mutation SNP A A T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr22:19969065A>T ENST00000263207.3 - 5 856 c.565T>A c.(565-567)Ttt>Att p.F189I ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406522.1_Missense_Mutation_p.F126I|ARVCF_ENST00000401994.1_Missense_Mutation_p.F126I|ARVCF_ENST00000344269.3_Missense_Mutation_p.F126I|ARVCF_ENST00000406259.1_Missense_Mutation_p.F189I NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 189 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) CCTTCGGGAAAGCCACCCCCA 0.701000 8 40 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36978763 36978763 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr6:36978763G>A ENST00000274963.8 + 3 486 c.315G>A c.(313-315)aaG>aaA p.K105K NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 105 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CAGAGAAGAAGATCGTCCAGG 0.607000 21 56 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32148570 32148570 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr1:32148570C>T ENST00000373672.3 - 37 3019 c.2503G>A c.(2503-2505)Gtg>Atg p.V835M COL16A1_ENST00000373668.3_Missense_Mutation_p.V835M|COL16A1_ENST00000271069.6_Missense_Mutation_p.V834M NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 835 Triple-helical region 5 (COL5) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GGAGGTCCCACAGGTCCGGTG 0.567000 15 58 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 16208374 16208374 + Silent SNP C C T rs141152204 by1000genomes TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:16208374C>T ENST00000352083.6 - 5 740 c.663G>A c.(661-663)gaG>gaA p.E221E SOX6_ENST00000528429.1_Silent_p.E221E|SOX6_ENST00000316399.6_Silent_p.E221E|SOX6_ENST00000396356.3_Silent_p.E221E|SOX6_ENST00000527619.1_Silent_p.E224E|SOX6_ENST00000528252.1_Silent_p.E221E P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 221 Gln-rich. muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 GCCGTTGTTTCTCAATTTGTG 0.522000 50 190 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123844397 123844397 + Silent SNP G G C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr10:123844397G>C ENST00000369005.1 + 4 2722 c.2382G>C c.(2380-2382)acG>acC p.T794T TACC2_ENST00000453444.2_Silent_p.T794T|TACC2_ENST00000515603.1_Silent_p.T794T|TACC2_ENST00000515273.1_Silent_p.T794T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.T794T|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 794 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGGGGCTCACGGCACTCATCC 0.617000 25 48 0 0 1 0 0 GOPC 57120 broad.mit.edu 37 6 117900158 117900158 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr6:117900158C>T ENST00000535237.1 - 2 584 c.355G>A c.(355-357)Gta>Ata p.V119I GOPC_ENST00000368498.2_Missense_Mutation_p.V119I|GOPC_ENST00000052569.6_Missense_Mutation_p.V119I golgi-associated PDZ and coiled-coil motif containing GOPC/ROS1(14) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) TGATCATGTACTTCTTTCTCC 0.393000 O ROS1 glioblastoma 6 77 0 0 1 0 0 RNF19A 25897 broad.mit.edu 37 8 101299800 101299800 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr8:101299800G>A ENST00000519449.1 - 3 919 c.603C>T c.(601-603)taC>taT p.Y201Y RNF19A_ENST00000341084.2_Silent_p.Y201Y NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 201 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) TAAATTCTTCGTATTTTTCCA 0.388000 56 135 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098807 178098807 + Missense_Mutation SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:178098807T>C ENST00000397062.3 - 2 792 c.238A>G c.(238-240)Aca>Gca p.T80A NFE2L2_ENST00000446151.2_Missense_Mutation_p.T64A|NFE2L2_ENST00000423513.1_Missense_Mutation_p.T64A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.T64A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.T64A NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 80 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.T80P(5) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AATTCACCTGTCTCTTCATCT 0.438000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 30 261 0 0 1 0 0 WIPI1 55062 broad.mit.edu 37 17 66422259 66422259 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:66422259G>A ENST00000262139.5 - 12 1249 c.1250C>T c.(1249-1251)gCg>gTg p.A417V RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.A335V NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 417 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 TGGTCCCGTCGCAAACTCATG 0.507000 23 62 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39247049 39247049 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr7:39247049C>T ENST00000518318.2 + 4 383 c.341C>T c.(340-342)cCc>cTc p.P114L POU6F2_ENST00000403058.1_Missense_Mutation_p.P114L|POU6F2_ENST00000559001.1_Missense_Mutation_p.P106L|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 114 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P114H(1) NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CCGGGAGGCCCCCCAGCCCTC 0.582000 41 175 0 0 1 0 0 PABPC5 140886 broad.mit.edu 37 X 90691385 90691385 + Missense_Mutation SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chrX:90691385A>G ENST00000312600.3 + 2 1023 c.809A>G c.(808-810)tAt>tGt p.Y270C PABPC5_ENST00000373105.1_Missense_Mutation_p.Y106C NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 270 RRM 3. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 AAAGTCCTCTATGTAGGGCGA 0.488000 14 40 0 0 1 0 0 DDX5 1655 broad.mit.edu 37 17 62499311 62499311 + Missense_Mutation SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:62499311T>C ENST00000225792.5 - 7 1206 c.805A>G c.(805-807)Ata>Gta p.I269V DDX5_ENST00000450599.2_Missense_Mutation_p.I190V|DDX5_ENST00000578804.1_Missense_Mutation_p.I269V NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 269 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) CTTACTCTTATTTGATCCACA 0.363000 T ETV4 prostate 53 163 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19384466 19384466 + Silent SNP A A T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr22:19384466A>T ENST00000263208.5 - 7 754 c.498T>A c.(496-498)atT>atA p.I166I HIRA_ENST00000340170.4_Silent_p.I166I|HIRA_ENST00000541063.1_Silent_p.I122I|HIRA_ENST00000546308.1_Silent_p.I122I NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 166 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) GAGTAGCTAGAATTTCTGTGA 0.478000 18 76 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14581479 14581479 + Silent SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr19:14581479C>T ENST00000242783.6 + 20 2694 c.2529C>T c.(2527-2529)atC>atT p.I843I PKN1_ENST00000342216.4_Silent_p.I849I NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 843 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 CCGAAGCCATCGGCATCATGA 0.657000 10 41 0 0 1 0 0 BORA 79866 broad.mit.edu 37 13 73320113 73320113 + Missense_Mutation SNP G G C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr13:73320113G>C ENST00000390667.5 + 9 867 c.770G>C c.(769-771)aGt>aCt p.S257T BORA_ENST00000377815.3_Missense_Mutation_p.S187T NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 257 Ser-rich. cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding ATTCAGGCTAGTGCAAAAAAA 0.373000 38 130 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54416163 54416163 + Silent SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr19:54416163C>T ENST00000391767.1 + 2 290 c.78C>T c.(76-78)atC>atT p.I26I CACNG7_ENST00000222212.2_Silent_p.I26I|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Silent_p.I26I P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 26 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) TGGTAGGCATCGCGGTCAGCA 0.647000 18 53 0 0 1 0 0 PURG 29942 broad.mit.edu 37 8 30889481 30889481 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr8:30889481C>T ENST00000475541.1 - 1 1750 c.818G>A c.(817-819)aGg>aAg p.R273K PURG_ENST00000339382.2_Missense_Mutation_p.R273K NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 273 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) AAAGTAGAACCTTTTATTGTC 0.428000 20 76 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46000054 46000054 + Translation_Start_Site SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr3:46000054G>A ENST00000438446.1 - 0 99 FYCO1_ENST00000296137.2_Silent_p.H1215H|FYCO1_ENST00000535325.1_Silent_p.H1215H Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) TTTTGCCACCGTGCTTGCTCA 0.562000 29 52 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2120559 2120559 + Missense_Mutation SNP G G A rs45517203 byFrequency TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr16:2120559G>A ENST00000219476.3 + 17 2449 c.1819G>A c.(1819-1821)Gcg>Acg p.A607T TSC2_ENST00000568454.1_Missense_Mutation_p.A618T|TSC2_ENST00000439673.2_Missense_Mutation_p.A570T|TSC2_ENST00000350773.4_Missense_Mutation_p.A607T|TSC2_ENST00000353929.4_Missense_Mutation_p.A607T|TSC2_ENST00000382538.6_Missense_Mutation_p.A558T|TSC2_ENST00000401874.2_Missense_Mutation_p.A607T NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 607 A -> T. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity p.A607T(2) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CCTGCCAATCGCGAGCAGCAT 0.622000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 29 62 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56044041 56044041 + Silent SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:56044041A>G ENST00000313033.2 + 1 1013 c.927A>G c.(925-927)gtA>gtG p.V309V NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) ACAAAGATGTAAAGGAGGCAA 0.353000 25 100 0 0 1 0 0 RAB6C-AS1 100131320 broad.mit.edu 37 2 130725847 130725847 + RNA SNP C C T rs151288976 by1000genomes TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:130725847C>T ENST00000412425.1 - 0 771 NR_036537.1 TTGGTTTTGGCGCTTCTGTTG 0.478000 19 57 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52901042 52901042 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr1:52901042C>T ENST00000371544.3 - 27 4517 c.4255G>A c.(4255-4257)Gaa>Aaa p.E1419K ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1420K NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1419 Gln-rich. miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CTTACACATTCTGATGACTGT 0.453000 5 80 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577157 7577157 + Splice_Site SNP T T G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:7577157T>G ENST00000420246.2 - 8 915 c.e8-2 TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(11)|p.0?(8)|p.E258fs*71(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) AGATTACCACTACTCAGGATA 0.512000 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) 4 18 0 0 1 0 0 PSCA 8000 broad.mit.edu 37 8 143763539 143763539 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr8:143763539G>A ENST00000301258.4 + 3 417 c.334G>A c.(334-336)Ggc>Agc p.G112S NM_005672.4 NP_005663.2 D3DWI6 D3DWI6_HUMAN prostate stem cell antigen 112 endometrium(1)|large_intestine(1) 2 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CTGGGGACCCGGCCAGCTCTA 0.711000 4 57 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 65 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34871782 34871782 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:34871782G>A ENST00000431794.3 - 7 988 c.466C>T c.(466-468)Cct>Tct p.P156S MYO19_ENST00000586007.1_Missense_Mutation_p.P156S|MYO19_ENST00000544606.1_Missense_Mutation_p.P22S|MYO19_ENST00000268852.9_Missense_Mutation_p.P156S NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 156 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CAAGATGCAGGTGAGGTGGCC 0.537000 10 31 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77948888 77948888 + Missense_Mutation SNP C C A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr14:77948888C>A ENST00000393684.3 - 5 877 c.486G>T c.(484-486)tgG>tgT p.W162C ISM2_ENST00000412904.1_Missense_Mutation_p.W169C|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.W169C|ISM2_ENST00000342219.4_Missense_Mutation_p.W250C Q6H9L7 ISM2_HUMAN isthmin 2 250 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 TGTAGTCTCCCCAGAGGAAGG 0.607000 16 119 3.99206e-14 4.43328e-14 1 1 0 GPC3 2719 broad.mit.edu 37 X 133087078 133087078 + Splice_Site SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chrX:133087078T>C ENST00000370818.3 - 2 781 c.337_splice c.e2+1 p.Q112_splice GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Splice_Site_p.Q112_splice NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 112 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) AGAACTCACCTTGGAAAACCG 0.378000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 84 148 0 0 1 0 0 CSTF1 1477 broad.mit.edu 37 20 54972508 54972508 + Missense_Mutation SNP A A T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr20:54972508A>T ENST00000217109.4 + 3 767 c.415A>T c.(415-417)Agg>Tgg p.R139W CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 139 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) TGACACAGAGAGGATGTTGGC 0.398000 44 129 0 0 1 0 0 HES7 84667 broad.mit.edu 37 17 8025100 8025100 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:8025100G>A ENST00000541682.2 - 4 481 c.482C>T c.(481-483)cCt>cTt p.P161L HES7_ENST00000317814.4_Missense_Mutation_p.P156L NM_001165967.1|NM_032580.3 NP_001159439.1|NP_115969.2 Q9BYE0 HES7_HUMAN hes family bHLH transcription factor 7 156 Pro-rich. mesoderm development|transcription, DNA-dependent nucleus DNA binding GTGCAGCGCAGGGCCAAGGGC 0.761000 8 11 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22170647 22170647 + Silent SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr1:22170647C>T ENST00000374695.3 - 65 8689 c.8610G>A c.(8608-8610)cgG>cgA p.R2870R NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2870 Ig-like C2-type 14. 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) TTACCTGGTGCCGGGCAGGGA 0.627000 4 103 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31867888 31867888 + Missense_Mutation SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr22:31867888T>C ENST00000397525.1 - 3 335 c.112A>G c.(112-114)Ata>Gta p.I38V EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.I38V|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.I38V|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.I38V NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 38 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AGTTCTTTTATATCCAAGAGT 0.343000 33 130 0 0 1 0 0 QSOX2 169714 broad.mit.edu 37 9 139113676 139113676 + Missense_Mutation SNP T T A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr9:139113676T>A ENST00000358701.5 - 6 824 c.787A>T c.(787-789)Atc>Ttc p.I263F NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 263 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) TTTGGGTAGATCAGGTAACAC 0.552000 25 70 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1628933 1628933 + Missense_Mutation SNP C C G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:1628933C>G ENST00000399685.1 - 1 760 c.683G>C c.(682-684)tGc>tCc p.C228S NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 228 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) TGGGACACAGCAGCTGGACTG 0.597000 42 258 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47219490 47219490 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:47219490G>A ENST00000300404.2 + 3 548 c.489G>A c.(487-489)gcG>gcA p.A163A B4GALNT2_ENST00000393354.2_Silent_p.A103A|B4GALNT2_ENST00000504681.1_Silent_p.A77A NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 163 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) ACCTCCCAGCGGTGAAAGCGA 0.507000 28 81 0 0 1 0 0 CTPS2 56474 broad.mit.edu 37 X 16717105 16717105 + Missense_Mutation SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chrX:16717105A>G ENST00000443824.1 - 3 1021 c.278T>C c.(277-279)aTa>aCa p.I93T CTPS2_ENST00000380241.3_Missense_Mutation_p.I93T|CTPS2_ENST00000359276.4_Missense_Mutation_p.I93T NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 93 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) ATGCTGATATATCTTCCCCGT 0.373000 33 115 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70948979 70948979 + Missense_Mutation SNP C C T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr12:70948979C>T ENST00000334414.6 - 20 5148 c.5104G>A c.(5104-5106)Gct>Act p.A1702T PTPRB_ENST00000261266.5_Missense_Mutation_p.A1484T|PTPRB_ENST00000538708.1_Missense_Mutation_p.A1394T|PTPRB_ENST00000451516.2_Missense_Mutation_p.A1394T|PTPRB_ENST00000550857.1_Missense_Mutation_p.A1394T|PTPRB_ENST00000550358.1_Missense_Mutation_p.A1614T NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1484 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TATTTCACAGCTCCATTGGTG 0.458000 14 56 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225379381 225379381 + Nonsense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr2:225379381G>A ENST00000264414.4 - 4 825 c.487C>T c.(487-489)Caa>Taa p.Q163* CUL3_ENST00000344951.4_Nonsense_Mutation_p.Q97*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.Q139*|CUL3_ENST00000409096.1_Nonsense_Mutation_p.Q139*|CUL3_ENST00000432260.2_5'UTR NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 163 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) AATAGAGTTTGCCGTAGATGA 0.353000 26 96 0 0 1 0 0 GATA3-AS1 399717 broad.mit.edu 37 10 8092994 8092994 + RNA SNP T T C TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr10:8092994T>C ENST00000355358.1 - 0 1632 NR_024256.1 GCGCCCTGGGTCTGTAGCCCT 0.706000 3 18 0 0 1 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51044054 51044054 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr22:51044054G>A ENST00000399908.2 + 5 1824 c.1108G>A c.(1108-1110)Gag>Aag p.E370K MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.E256K|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E358K|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.E341K|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.E370K|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.E635K NM_016431.3 NP_057515.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 636 behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTGGAGGCCGAGGAGGACGA 0.662000 9 31 0 0 1 0 0 CNBD2 140894 broad.mit.edu 37 20 34611605 34611605 + Missense_Mutation SNP C C T rs151169935 TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr20:34611605C>T ENST00000373973.3 + 11 1524 c.1351C>T c.(1351-1353)Cgg>Tgg p.R451W CNBD2_ENST00000349339.1_Missense_Mutation_p.R447W|CNBD2_ENST00000538900.1_Intron cyclic nucleotide binding domain containing 2 TGAGTTGATACGGATAAGGAA 0.443000 12 100 0 0 1 0 0 KRT34 3885 broad.mit.edu 37 17 39538023 39538023 + Missense_Mutation SNP C C A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:39538023C>A ENST00000394001.1 - 2 529 c.499G>T c.(499-501)Gcc>Tcc p.A167S NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 167 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) ACCAGCCTGGCATTCTCAGCC 0.458000 27 142 2.48779e-11 2.73398e-11 1 1 0 USH2A 7399 broad.mit.edu 37 1 216251525 216251525 + Silent SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr1:216251525G>A ENST00000366943.2 - 27 5864 c.5478C>T c.(5476-5478)tcC>tcT p.S1826S RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Silent_p.S1826S|RP11-22M7.2_ENST00000446411.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1826 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCTGGTCTCCGGACTCCGATG 0.418000 HNSCC(13;0.011) 30 290 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117710803 117710803 + Missense_Mutation SNP A A G TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr6:117710803A>G ENST00000368508.3 - 12 1667 c.1469T>C c.(1468-1470)aTc>aCc p.I490T ROS1_ENST00000368507.3_Missense_Mutation_p.I499T|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 490 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GCGAGGTAGGATGAGATGGGA 0.438000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 16 65 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71732293 71732293 + Silent SNP G G A rs141785503 byFrequency TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr11:71732293G>A ENST00000393695.3 - 8 748 c.417C>T c.(415-417)gaC>gaT p.D139D NUMA1_ENST00000358965.6_Silent_p.D139D|NUMA1_ENST00000351960.6_Silent_p.D139D NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 139 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GGTTTAGCCCGTCCTCATGGT 0.478000 T RARA APL 10 131 0 0 1 0 0 UNK 85451 broad.mit.edu 37 17 73813557 73813557 + Missense_Mutation SNP G G A TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:73813557G>A ENST00000293218.3 + 10 1483 c.1483G>A c.(1483-1485)Gag>Aag p.E495K UNK_ENST00000589666.1_Missense_Mutation_p.E419K Q9C0B0 UNK_HUMAN unkempt family zinc finger 419 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCCGGCTTCGAGAGGGAAGA 0.612000 7 30 0 0 1 0 0 SNORA80E 677823 broad.mit.edu 37 1 116164598 116164598 + RNA DEL A A - TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr1:116164598delA ENST00000384771.1 - 0 28 gcccacagagaagggccccca 0.473 2 4 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 9 110 --- --- --- --- CTB-57H20.1 0 broad.mit.edu 37 5 143132079 143132079 + RNA DEL G G - TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr5:143132079delG ENST00000503323.1 + 0 379 ACTGCCCACTGATAGCTCCTC 0.562 13 28 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80744740 80744740 + Frame_Shift_Del DEL T T - TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr6:80744740delT ENST00000509894.1 + 15 2479 c.1650delT c.(1648-1650)gcfs p.A550fs TTK_ENST00000369798.2_Frame_Shift_Del_p.A551fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.A550fs P33981 TTK_HUMAN TTK protein kinase 551 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AGATATATGCTATAAAATATG 0.299 34 155 --- --- --- --- C9orf37 85026 broad.mit.edu 37 9 140510463 140510465 + In_Frame_Del DEL CCA CCA - TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr9:140510463_140510465delCCA ENST00000371417.3 - 3 727_729 c.187_189delTGG c.(187-189)del p.W63del C9orf37_ENST00000496793.1_5'UTR NM_032937.4 NP_116326.2 Q9H2J1 CI037_HUMAN chromosome 9 open reading frame 37 63 breast(1)|large_intestine(2) 3 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) GGTTCAAATTCCAGTTCTCCTTT 0.571 22 52 --- --- --- --- APAF1 317 broad.mit.edu 37 12 99042592 99042592 + Frame_Shift_Del DEL T T - TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr12:99042592delT ENST00000547743.1 + 3 533 c.327delT c.(325-327)tafs p.Y109fs APAF1_ENST00000359972.2_Intron|APAF1_ENST00000357310.1_Splice_Site_p.Y109_splice|APAF1_ENST00000550527.1_Intron|APAF1_ENST00000549007.1_Splice_Site_p.Y109_splice|APAF1_ENST00000333991.1_Splice_Site_p.Y109_splice|APAF1_ENST00000547045.1_Splice_Site_p.Y109_splice|APAF1_ENST00000552268.1_Splice_Site_p.Y109_splice|APAF1_ENST00000551964.1_Splice_Site_p.Y109_splice|APAF1_ENST00000339433.3_Splice_Site_p.Y109_splice O14727 APAF_HUMAN apoptotic peptidase activating factor 1 109 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TAACTTCGTATGGTTTGTATC 0.373 24 104 --- --- --- --- OR4Q3 441669 broad.mit.edu 37 14 20215682 20215683 + Frame_Shift_Ins INS - - T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr14:20215682_20215683insT ENST00000331723.1 + 1 96_97 c.96_97insT c.(94-99)ttttttfs p.FF32fs NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TACTATTTTTGTTTTTTTACAT 0.381 26 169 --- --- --- --- SRSF2 6427 broad.mit.edu 37 17 74733220 74733221 + Frame_Shift_Ins INS - - GA TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr17:74733220_74733221insGA ENST00000392485.2 - 1 194_195 c.22_23insTC c.(22-24)cgafs p.R8fs MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000591864.1_Intron|SRSF2_ENST00000508921.3_Frame_Shift_Ins_p.R8fs|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Frame_Shift_Ins_p.R8fs|MFSD11_ENST00000586622.1_Intron NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 8 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 CTCCACATCGGGAGGGGGGCGG 0.698 Mis """MDS, CLL""" 7 15 --- --- --- --- STMN3 50861 broad.mit.edu 37 20 62284693 62284693 + Frame_Shift_Del DEL G G - TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 115fc73e-31d9-455d-b669-9e1e1d685309 bde1491b-56ba-4a3e-90de-860e84520ae2 g.chr20:62284693delG ENST00000370053.1 - 1 87 c.6delC c.(4-6)gcfs p.A2fs NM_001276310.1|NM_015894.2 NP_001263239.1|NP_056978.2 Q9NZ72 STMN3_HUMAN stathmin-like 3 2 cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding kidney(1)|large_intestine(1)|lung(5)|prostate(1) 8 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) AAATGGTGCTGGCCATGGTGC 0.741 OREG0006921 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=STMN3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 2 4 --- --- --- ---