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 HECTD4 283450 broad.mit.edu 37 12 112690297 112690297 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr12:112690297C>T ENST00000550722.1 - 23 3440 c.3045G>A c.(3043-3045)atG>atA p.M1015I HECTD4_ENST00000377560.5_Missense_Mutation_p.M989I|HECTD4_ENST00000430131.2_Missense_Mutation_p.M739I NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GGCCACTTCTCATTTCAAAGG 0.438000 14 94 0 0 0.002450 0 0 SYDE2 84144 broad.mit.edu 37 1 85648848 85648848 + Missense_Mutation SNP A A T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:85648848A>T ENST00000341460.5 - 3 1526 c.1477T>A c.(1477-1479)Ttg>Atg p.L493M NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 493 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) ATAATTCCCAATTCAGTACTA 0.328000 12 81 0 0 0.000978 0 0 TAF1 6872 broad.mit.edu 37 X 70607298 70607298 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:70607298G>A ENST00000449580.1 + 15 2462 c.2411G>A c.(2410-2412)cGa>cAa p.R804Q TAF1_ENST00000276072.3_Missense_Mutation_p.R825Q|TAF1_ENST00000373790.4_Missense_Mutation_p.R804Q|TAF1_ENST00000423759.1_Missense_Mutation_p.R825Q P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 804 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity p.R804Q(1)|p.R825Q(1) breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) ACGCATATTCGAGACTTTCTA 0.488000 8 69 0 0 0.003080 0 0 HNRNPA1L2 144983 broad.mit.edu 37 13 53217120 53217120 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr13:53217120C>G ENST00000342657.3 + 7 1566 c.493C>G c.(493-495)Cag>Gag p.Q165E HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.Q165E|HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.Q165E NM_001011724.1 NP_001011724.1 Q32P51 RA1L2_HUMAN heterogeneous nuclear ribonucleoprotein A1-like 2 165 Globular B domain.|RRM 2. mRNA processing|mRNA transport|RNA splicing cytoplasm|spliceosomal complex nucleotide binding|RNA binding cervix(1)|large_intestine(1)|lung(5) 7 GATTGTCATTCAGAAATACCA 0.468000 7 63 0 0 0.001984 0 0 STRADB 55437 broad.mit.edu 37 2 202337702 202337702 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:202337702C>T ENST00000194530.3 + 5 583 c.218C>T c.(217-219)tCt>tTt p.S73F STRADB_ENST00000392249.2_Missense_Mutation_p.S73F NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 73 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 AACTTGACTTCTGTCCATCTT 0.358000 10 79 0 0 0.006214 0 0 LRRN3 54674 broad.mit.edu 37 7 110763864 110763864 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr7:110763864C>T ENST00000451085.1 + 4 2082 c.1036C>T c.(1036-1038)Ctc>Ttc p.L346F IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L346F|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.L346F|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 346 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) CAGCAATGCTCTCAGTGCCCT 0.453000 16 71 0 0 0.006122 0 0 TTC13 79573 broad.mit.edu 37 1 231057232 231057232 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:231057232C>G ENST00000366661.4 - 16 1840 c.1833G>C c.(1831-1833)atG>atC p.M611I TTC13_ENST00000414259.1_Missense_Mutation_p.M558I|TTC13_ENST00000366662.4_Missense_Mutation_p.M558I NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 611 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CTAGGTATCTCATGTTGATCA 0.269000 3 29 0 0 0.004672 0 0 SLC1A7 6512 broad.mit.edu 37 1 53580588 53580588 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:53580588G>A ENST00000371494.4 - 3 400 c.273C>T c.(271-273)ctC>ctT p.L91L RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Silent_p.L91L NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 91 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) ACGCCACGGTGAGGACGCCCA 0.647000 6 19 0 0 0.001168 0 0 TBC1D4 9882 broad.mit.edu 37 13 75911119 75911119 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr13:75911119C>T ENST00000377636.3 - 8 2015 c.1669G>A c.(1669-1671)Gac>Aac p.D557N TBC1D4_ENST00000377625.2_Missense_Mutation_p.D557N|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D557N NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 557 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) TTCAGAATGTCAAGTTTGAAC 0.333000 8 42 0 0 0.004482 0 0 CAP2 10486 broad.mit.edu 37 6 17551730 17551730 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:17551730G>A ENST00000229922.2 + 12 1777 c.1245G>A c.(1243-1245)aaG>aaA p.K415K CAP2_ENST00000493172.1_Silent_p.K155K|CAP2_ENST00000378990.2_Silent_p.K389K|CAP2_ENST00000465994.1_Silent_p.K351K|CAP2_ENST00000489374.1_Silent_p.K303K NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 415 C-CAP/cofactor C-like. activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) CCATTAATAAGACAGAAGGTT 0.408000 10 66 0 0 0.006214 0 0 AKAP1 8165 broad.mit.edu 37 17 55183032 55183032 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr17:55183032C>T ENST00000337714.3 + 2 440 c.207C>T c.(205-207)tcC>tcT p.S69S AKAP1_ENST00000572557.1_Silent_p.S69S|AKAP1_ENST00000571629.1_Silent_p.S69S|AKAP1_ENST00000314126.3_Silent_p.S69S|AKAP1_ENST00000539273.1_Silent_p.S69S NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 69 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) AAGTAGTGTCCACACCCCCCA 0.602000 10 45 0 0 0.008291 0 0 DNAH2 146754 broad.mit.edu 37 17 7695575 7695575 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr17:7695575G>A ENST00000572933.1 + 46 8519 c.7059G>A c.(7057-7059)acG>acA p.T2353T DNAH2_ENST00000389173.2_Silent_p.T2353T Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2353 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTTAGGACACGGTATATGAGT 0.532000 10 98 0 0 0.000978 0 0 SLC37A1 54020 broad.mit.edu 37 21 43974187 43974187 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr21:43974187G>A ENST00000352133.2 + 10 1766 c.784G>A c.(784-786)Gag>Aag p.E262K SLC37A1_ENST00000398341.3_Missense_Mutation_p.E262K P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 262 carbohydrate transport|transmembrane transport integral to membrane breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 AAAAGGCTATGAGAATGGTAC 0.388000 4 20 0 0 0.000248 0 0 C4orf19 55286 broad.mit.edu 37 4 37592483 37592483 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr4:37592483C>T ENST00000284437.6 + 3 984 c.806C>T c.(805-807)tCa>tTa p.S269L C4orf19_ENST00000381980.4_Missense_Mutation_p.S269L|C4orf19_ENST00000508175.1_Intron|RELL1_ENST00000314117.4_3'UTR NM_018302.2 NP_060772.2 Q8IY42 CD019_HUMAN chromosome 4 open reading frame 19 269 large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1) 9 GTGGTTGACTCAGGAAACAGG 0.522000 10 96 0 0 0.006214 0 0 KIAA0753 9851 broad.mit.edu 37 17 6483153 6483153 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr17:6483153C>G ENST00000361413.3 - 19 3176 c.2818G>C c.(2818-2820)Ggt>Cgt p.G940R KIAA0753_ENST00000589033.1_Missense_Mutation_p.G396R|KIAA0753_ENST00000572370.1_Missense_Mutation_p.G641R|KIAA0753_ENST00000542606.1_Missense_Mutation_p.G641R NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 940 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) GCCACAGCACCCAGAGCTTCA 0.493000 10 95 0 0 0.006214 0 0 ZFHX4 79776 broad.mit.edu 37 8 77761784 77761784 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr8:77761784G>A ENST00000521891.2 + 8 4130 c.3682G>A c.(3682-3684)Gac>Aac p.D1228N ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1183N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1183N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1202N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1183 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAATAGTAGGGACCAAAGTCG 0.413000 HNSCC(33;0.089) 8 77 0 0 0.004482 0 0 FRYL 285527 broad.mit.edu 37 4 48542543 48542543 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr4:48542543C>T ENST00000537810.1 - 46 6726 c.6122G>A c.(6121-6123)cGa>cAa p.R2041Q FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.R2041Q|FRYL_ENST00000503238.1_Missense_Mutation_p.R2041Q O94915 FRYL_HUMAN FRY-like 2041 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.R2041Q(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 AATCTTCTCTCGACTCTCTGA 0.378000 13 49 0 0 0.002450 0 0 EXD1 161829 broad.mit.edu 37 15 41476416 41476416 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr15:41476416C>T ENST00000314992.5 - 10 1448 c.1258G>A c.(1258-1260)Gag>Aag p.E420K EXD1_ENST00000458580.2_Missense_Mutation_p.E478K NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 420 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 CTCTGGTCCTCTGACCCCTTT 0.413000 21 137 0 0 0.002299 0 0 WDR13 64743 broad.mit.edu 37 X 48458093 48458093 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:48458093G>A ENST00000218056.5 + 4 1016 c.511G>A c.(511-513)Gtg>Atg p.V171M WDR13_ENST00000492715.1_3'UTR NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 171 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 TGACCAGCACGTGGATGAGGC 0.572000 11 80 0 0 0.000978 0 0 ARID2 196528 broad.mit.edu 37 12 46233280 46233280 + Splice_Site SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr12:46233280G>A ENST00000334344.6 + 11 1670 c.e11+1 ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site|ARID2_ENST00000479608.1_Splice_Site NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCTGCCCCAGGTTAGTGTTTT 0.373000 """N, S, F""" hepatocellular carcinoma 14 77 0 0 0.001855 0 0 BTK 695 broad.mit.edu 37 X 100608293 100608293 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:100608293C>G ENST00000308731.7 - 18 1960 c.1797G>C c.(1795-1797)gaG>gaC p.E599D BTK_ENST00000372880.1_Missense_Mutation_p.E423D NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 599 Protein kinase. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TAGTAAATCTCTCATATGGCA 0.423000 Agammaglobulinemia, X-linked 18 160 0 0 0.004990 0 0 MICU1 10367 broad.mit.edu 37 10 74322720 74322720 + Missense_Mutation SNP T T G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr10:74322720T>G ENST00000398761.4 - 3 395 c.263A>C c.(262-264)aAg>aCg p.K88T MICU1_ENST00000361114.5_Missense_Mutation_p.K88T|MICU1_ENST00000604025.1_5'UTR|MICU1_ENST00000401998.3_Missense_Mutation_p.K88T Q9BPX6 MICU1_HUMAN mitochondrial calcium uptake 1 88 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding ATCTGCAGTCTTTTTCTCATG 0.403000 3 24 0 0 0.004672 0 0 SERINC5 256987 broad.mit.edu 37 5 79473837 79473837 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr5:79473837C>T ENST00000507668.2 - 3 395 c.245G>A c.(244-246)tGt>tAt p.C82Y SERINC5_ENST00000512721.1_Missense_Mutation_p.C82Y|SERINC5_ENST00000512972.2_Missense_Mutation_p.C82Y|SERINC5_ENST00000509193.1_Missense_Mutation_p.C82Y|SERINC5_ENST00000513907.1_5'UTR NM_001174071.1|NM_178276.5 NP_001167542.1|NP_840060.1 Q86VE9 SERC5_HUMAN serine incorporator 5 82 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane endometrium(3)|kidney(1)|lung(3)|ovary(1) 8 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) CAGCTTCTCACAGGTGTCACC 0.398000 4 11 0 0 0.000248 0 0 RGPD3 653489 broad.mit.edu 37 2 107032306 107032306 + Splice_Site SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:107032306C>T ENST00000409886.3 - 21 5151 c.5064_splice c.e21+1 p.K1688_splice RGPD3_ENST00000304514.7_Splice_Site_p.K1688_splice NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1688 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CTGATCTCACCTTAATTTGCT 0.438000 17 179 0 0 0.001882 0 0 MAML3 55534 broad.mit.edu 37 4 140811123 140811123 + Silent SNP T T C rs62344939 TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr4:140811123T>C ENST00000509479.2 - 2 2323 c.1467A>G c.(1465-1467)caA>caG p.Q489Q MAML3_ENST00000398940.1_Silent_p.Q28Q|MAML3_ENST00000327122.5_Silent_p.Q333Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 489 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgttgctgttgct 0.547000 3 36 0 0 0.000248 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602131 138602131 + Silent SNP A A G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr7:138602131A>G ENST00000440172.1 - 2 2289 c.2241T>C c.(2239-2241)gcT>gcC p.A747A KIAA1549_ENST00000422774.1_Silent_p.A747A|KIAA1549_ENST00000242365.4_Silent_p.A697A NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 747 Ser-rich. integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TTTCAATGAAAGCTGAGGTAA 0.473000 O BRAF pilocytic astrocytoma 7 38 0 0 0.001984 0 0 PPP4R4 57718 broad.mit.edu 37 14 94693666 94693666 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr14:94693666C>T ENST00000328839.3 + 4 466 c.338C>T c.(337-339)tCa>tTa p.S113L PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000304338.3_Intron NM_020958.2 NP_066009.2 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 0 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 GTATGGATCTCACATATGTTT 0.378000 5 32 0 0 0.000602 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44609918 44609918 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr3:44609918C>T ENST00000273320.3 + 5 1233 c.804C>T c.(802-804)gcC>gcT p.A268A ZKSCAN7_ENST00000431636.1_Silent_p.A268A|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Silent_p.A268A|ZKSCAN7_ENST00000341840.3_Silent_p.A268A NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 ATAGCATGGCCTCCTTGGGTA 0.403000 8 55 0 0 0.004482 0 0 AGPAT1 10554 broad.mit.edu 37 6 32138238 32138238 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:32138238G>A ENST00000395499.1 - 4 1053 c.474C>T c.(472-474)gtC>gtT p.V158V AGPAT1_ENST00000395497.1_Silent_p.V158V|AGPAT1_ENST00000412465.2_Silent_p.V46V|AGPAT1_ENST00000395496.1_Silent_p.V158V|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Silent_p.V158V|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000375107.3_Silent_p.V158V|AGPAT1_ENST00000336984.6_Silent_p.V158V Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 158 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2) 12 CCTCAGACATGACACTGATGG 0.592000 8 75 0 0 0.003080 0 0 MAPK9 5601 broad.mit.edu 37 5 179676105 179676105 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr5:179676105C>G ENST00000452135.2 - 6 782 c.484G>C c.(484-486)Gac>Cac p.D162H MAPK9_ENST00000343111.6_Missense_Mutation_p.D162H|MAPK9_ENST00000455781.1_Missense_Mutation_p.D162H|MAPK9_ENST00000347470.4_Missense_Mutation_p.D162H|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.D162H|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000539014.1_Missense_Mutation_p.D162H|MAPK9_ENST00000393360.3_Missense_Mutation_p.D162H P45984 MK09_HUMAN mitogen-activated protein kinase 9 162 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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 cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGGTGCAGTCTGATTTCACA 0.463000 12 96 0 0 0.000978 0 0 AP3D1 8943 broad.mit.edu 37 19 2121736 2121736 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr19:2121736C>T ENST00000355272.6 - 12 1304 c.1098G>A c.(1096-1098)ggG>ggA p.G366G AP3D1_ENST00000356926.4_Silent_p.G275G|AP3D1_ENST00000345016.5_Silent_p.G366G|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Silent_p.G197G NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 366 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACGCACCATCCCATAGAGCA 0.637000 8 57 0 0 0.003080 0 0 C17orf85 55421 broad.mit.edu 37 17 3724646 3724646 + Splice_Site SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr17:3724646C>T ENST00000158149.3 - 10 952 c.56_splice c.e10-1 p.W19_splice C17orf85_ENST00000389005.4_Splice_Site_p.W299_splice Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 299 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ATCTTCGCTTCCTGCAAGAAT 0.413000 8 82 0 0 0.003080 0 0 FAM83G 644815 broad.mit.edu 37 17 18874772 18874772 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr17:18874772G>A ENST00000388995.6 - 6 2595 c.2372C>T c.(2371-2373)tCt>tTt p.S791F SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.S791F|FAM83G_ENST00000585154.2_Missense_Mutation_p.S791F|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 791 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CTTCGACTGAGACAGTTTGGA 0.632000 24 153 0 0 0.004656 0 0 DDAH1 23576 broad.mit.edu 37 1 85790448 85790448 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:85790448G>A ENST00000284031.8 - 5 810 c.716C>T c.(715-717)cCg>cTg p.P239L RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000539042.1_Missense_Mutation_p.P239L|DDAH1_ENST00000542148.1_Missense_Mutation_p.P139L|DDAH1_ENST00000426972.3_Missense_Mutation_p.P146L|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.P136L NM_012137.3 NP_036269.1 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 239 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1) 5 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) ATACTCTTCCGGGGTTCGGTG 0.473000 11 78 0 0 0.000978 0 0 NPAP1 23742 broad.mit.edu 37 15 24923550 24923550 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr15:24923550G>A ENST00000329468.2 + 1 3010 c.2536G>A c.(2536-2538)Gag>Aag p.E846K NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CAGGAAGGAGGAGTACATCCG 0.502000 12 98 0 0 0.000978 0 0 SUPT3H 8464 broad.mit.edu 37 6 44988309 44988309 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:44988309G>A ENST00000371460.1 - 6 597 c.280C>T c.(280-282)Ctt>Ttt p.L94F SUPT3H_ENST00000371459.1_Missense_Mutation_p.L83F|SUPT3H_ENST00000306867.5_Missense_Mutation_p.L83F|SUPT3H_ENST00000371461.2_Missense_Mutation_p.L94F NM_181356.2 NP_852001.1 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog (S. cerevisiae) 165 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 12 AAAAACAGAAGATCTTCAGGA 0.328000 4 32 0 0 0.000602 0 0 PARP4 143 broad.mit.edu 37 13 25049615 25049615 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr13:25049615C>T ENST00000381989.3 - 15 2014 c.1909G>A c.(1909-1911)Gcc>Acc p.A637T NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 637 VIT. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CATACCTGGGCTACAGTGTCT 0.458000 13 69 0 0 0.002450 0 0 NOTCH1 4851 broad.mit.edu 37 9 139392000 139392000 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr9:139392000G>A ENST00000277541.6 - 34 6266 c.6191C>T c.(6190-6192)cCc>cTc p.P2064L NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2064 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CAGAAACAGGGGTGTCTCCTC 0.677000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 3 20 0 0 0.004672 0 0 KIAA0100 9703 broad.mit.edu 37 17 26961608 26961608 + Silent SNP A A G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr17:26961608A>G ENST00000528896.2 - 16 3071 c.2997T>C c.(2995-2997)ccT>ccC p.P999P RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P|KIAA0100_ENST00000544884.1_Silent_p.P856P NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 999 extracellular region p.P999P(1) breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CAGGGGGAAAAGGGCTGCCTG 0.493000 3 131 0 0 0.004672 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28294045 28294045 + Missense_Mutation SNP G G C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:28294045G>C ENST00000414429.1 - 8 2022 c.1119C>G c.(1117-1119)caC>caG p.H373Q ZSCAN31_ENST00000344279.6_Missense_Mutation_p.H373Q|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.H214Q|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.H373Q|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.H373Q zinc finger and SCAN domain containing 31 TCTCACCAGTGTGGACTCGGA 0.473000 25 232 0 0 0.002780 0 0 CEP63 80254 broad.mit.edu 37 3 134251719 134251719 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr3:134251719G>A ENST00000337090.3 + 5 591 c.418G>A c.(418-420)Gag>Aag p.E140K CEP63_ENST00000513612.2_Missense_Mutation_p.E140K|CEP63_ENST00000332047.5_Missense_Mutation_p.E140K|CEP63_ENST00000383229.3_Missense_Mutation_p.E140K|CEP63_ENST00000354446.3_Missense_Mutation_p.E140K|CEP63_ENST00000606977.1_Missense_Mutation_p.E140K Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 140 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GTCTGAAATTGAGAGGTTAAC 0.363000 9 22 0 0 0.004482 0 0 DOPEY1 23033 broad.mit.edu 37 6 83841951 83841951 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:83841951G>A ENST00000349129.2 + 18 2933 c.2673G>A c.(2671-2673)caG>caA p.Q891Q DOPEY1_ENST00000237163.5_Silent_p.Q872Q|DOPEY1_ENST00000369739.3_Silent_p.Q882Q NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 891 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AGCATCACCAGAAGAGTGTGG 0.373000 5 82 0 0 0.000602 0 0 SOBP 55084 broad.mit.edu 37 6 107956508 107956508 + Missense_Mutation SNP G G T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:107956508G>T ENST00000317357.5 + 6 3119 c.2460G>T c.(2458-2460)atG>atT p.M820I SOBP_ENST00000494935.1_3'UTR NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 820 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CTCTGCGGATGCTGCCCAAGA 0.647000 18 122 9.16793e-09 1.87623e-08 0.004990 1 0 CD163 9332 broad.mit.edu 37 12 7639106 7639106 + Missense_Mutation SNP A A C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr12:7639106A>C ENST00000359156.4 - 10 2649 c.2447T>G c.(2446-2448)gTt>gGt p.V816G CD163_ENST00000396620.3_Missense_Mutation_p.V849G|CD163_ENST00000541972.1_Missense_Mutation_p.V804G|CD163_ENST00000432237.2_Missense_Mutation_p.V816G NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 816 SRCR 7. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TGAGCAGATAACTCCCGCATC 0.443000 4 130 0 0 0.000602 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44609921 44609921 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr3:44609921C>T ENST00000273320.3 + 5 1236 c.807C>T c.(805-807)tcC>tcT p.S269S ZKSCAN7_ENST00000431636.1_Silent_p.S269S|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Silent_p.S269S|ZKSCAN7_ENST00000341840.3_Silent_p.S269S NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 GCATGGCCTCCTTGGGTAATG 0.398000 8 54 0 0 0.006214 0 0 ZNF440 126070 broad.mit.edu 37 19 11943309 11943309 + Nonsense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr19:11943309C>T ENST00000304060.5 + 4 1482 c.1318C>T c.(1318-1320)Caa>Taa p.Q440* NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q440*(1) breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GAATAACCTTCAAAGTCATGA 0.398000 8 51 0 0 0.003080 0 0 PKLR 5313 broad.mit.edu 37 1 155264372 155264372 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:155264372C>T ENST00000392414.3 - 6 886 c.773G>A c.(772-774)cGg>cAg p.R258Q PKLR_ENST00000342741.4_Missense_Mutation_p.R289Q NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 289 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity p.R289L(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GCTGGCTTTCCGCACAAAGGA 0.627000 6 49 0 0 0.001984 0 0 NUP155 9631 broad.mit.edu 37 5 37327823 37327823 + Silent SNP A A C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr5:37327823A>C ENST00000231498.3 - 18 2135 c.1932T>G c.(1930-1932)acT>acG p.T644T NUP155_ENST00000381843.2_Silent_p.T585T|NUP155_ENST00000513532.1_Silent_p.T644T NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 644 Pro-rich. carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGTGGCCTGAGTTGCTGGGT 0.413000 4 36 0 0 0.000248 0 0 ISM1 140862 broad.mit.edu 37 20 13280034 13280034 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr20:13280034C>T ENST00000262487.3 + 6 1329 c.1323C>T c.(1321-1323)aaC>aaT p.N441N TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 441 AMOP. extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 CTCCCAACAACGGACAGAAGT 0.577000 10 52 0 0 0.006214 0 0 WASH3P 374666 broad.mit.edu 37 15 102516411 102516411 + RNA SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr15:102516411C>G ENST00000557932.1 + 0 1359 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TCCATCCCTCCTCTGCCGCCA 0.662000 3 27 0 0 0.000248 0 0 DCP1B 196513 broad.mit.edu 37 12 2061959 2061959 + Missense_Mutation SNP T T G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr12:2061959T>G ENST00000280665.6 - 7 1226 c.1147A>C c.(1147-1149)Aac>Cac p.N383H DCP1B_ENST00000540622.1_Missense_Mutation_p.N257H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.N281H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 383 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) CTGCTGCGGTTCAGGGCAGCT 0.572000 19 67 0 0 0.001523 0 0 OR8J3 81168 broad.mit.edu 37 11 55904603 55904603 + Missense_Mutation SNP T T C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr11:55904603T>C ENST00000301529.1 - 1 591 c.592A>G c.(592-594)Ata>Gta p.I198V NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) ATAAAGACTATTGTTTCTGGT 0.318000 12 81 0 0 0.000978 0 0 PTH2R 5746 broad.mit.edu 37 2 209308254 209308254 + Missense_Mutation SNP T T C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:209308254T>C ENST00000272847.2 + 6 904 c.691T>C c.(691-693)Tca>Cca p.S231P PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 231 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TGTGGACAAATCACAATATGT 0.363000 5 50 0 0 0.001984 0 0 PRSS3 5646 broad.mit.edu 37 9 33798053 33798053 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr9:33798053G>A ENST00000361005.5 + 3 598 c.598G>A c.(598-600)Ggc>Agc p.G200S RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.G157S|PRSS3_ENST00000379405.3_Missense_Mutation_p.G143S|PRSS3_ENST00000429677.3_Missense_Mutation_p.G136S NM_007343.3 NP_031369.2 P35030 TRY3_HUMAN protease, serine, 3 200 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) CCTCATCTCCGGCTGGGGCAA 0.567000 5 102 0 0 0.000602 0 0 PCBP3 54039 broad.mit.edu 37 21 47360032 47360032 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr21:47360032C>T ENST00000400314.1 + 15 1336 c.998C>T c.(997-999)aCg>aTg p.T333M PCBP3_ENST00000449640.1_Missense_Mutation_p.T333M|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.T323M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T307M|PCBP3_ENST00000400309.1_Missense_Mutation_p.T332M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T313M P57721 PCBP3_HUMAN poly(rC) binding protein 3 333 KH 3. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) GCCAACGCCACGGAAGGGTCC 0.527000 5 64 0 0 0.001168 0 0 UQCC2 84300 broad.mit.edu 37 6 33679329 33679329 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:33679329G>A ENST00000607484.1 - 1 175 c.135C>T c.(133-135)acC>acT p.T45T MNF1_ENST00000374214.3_Silent_p.T45T NM_032340.3 NP_115716.1 Q9BRT2 CF125_HUMAN 45 CGGTCACCTGGGTATTCTCTC 0.687000 7 43 0 0 0.001984 0 0 FANCG 2189 broad.mit.edu 37 9 35074164 35074164 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr9:35074164C>T ENST00000378643.3 - 14 2301 c.1810G>A c.(1810-1812)Gat>Aat p.D604N FANCG_ENST00000476212.1_5'UTR NM_004629.1 NP_004620.1 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 604 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCGTCACGATCAGAGGGACGG 0.517000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 7 57 0 0 0.001984 0 0 PAH 5053 broad.mit.edu 37 12 103288646 103288646 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr12:103288646C>T ENST00000553106.1 - 3 691 c.219G>A c.(217-219)aaG>aaA p.K73K PAH_ENST00000307000.2_Silent_p.K68K|PAH_ENST00000551988.1_5'UTR NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 73 ACT. catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) ACTCATCTTTCTTTAAACGAG 0.443000 14 57 0 0 0.002450 0 0 GREB1 9687 broad.mit.edu 37 2 11758602 11758602 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:11758602G>A ENST00000381486.2 + 22 3901 c.3601G>A c.(3601-3603)Gac>Aac p.D1201N GREB1_ENST00000234142.5_Missense_Mutation_p.D1201N|GREB1_ENST00000396123.1_Missense_Mutation_p.D199N NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1201 Ser-rich. integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GCCCCAGCCCGACTGTAGCCT 0.692000 8 18 0 0 0.006214 0 0 CPXM2 119587 broad.mit.edu 37 10 125530458 125530458 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr10:125530458G>A ENST00000241305.3 - 8 1230 c.1076C>T c.(1075-1077)tCa>tTa p.S359L CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 359 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) AGGGTGATCTGAGATCTCCAC 0.478000 38 258 0 0 0.003755 0 0 OR1C1 26188 broad.mit.edu 37 1 247921358 247921358 + Silent SNP C C A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:247921358C>A ENST00000408896.2 - 1 624 c.351G>T c.(349-351)gtG>gtT p.V117V NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CATACGCCATCACACACAGAA 0.488000 6 53 5.9392e-07 1.19874e-06 0.001168 1 0 AKAP17A 8227 broad.mit.edu 37 X 1720159 1720159 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:1720159G>A ENST00000313871.3 + 5 1956 c.1760G>A c.(1759-1761)cGg>cAg p.R587Q NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 587 Arg-rich. B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 AGCAAGGGCCGGGGCCGGGCC 0.687000 4 33 0 0 0.000248 0 0 SPSB3 90864 broad.mit.edu 37 16 1831369 1831369 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr16:1831369G>A ENST00000566339.1 - 2 446 c.116C>T c.(115-117)tCt>tTt p.S39F SPSB3_ENST00000301717.4_Missense_Mutation_p.S39F NM_080861.3 NP_543137.2 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box containing 3 39 intracellular signal transduction endometrium(1)|kidney(4)|lung(3)|prostate(2) 10 CTGCCCATCAGAGTCGTAGCC 0.642000 6 59 0 0 0.003080 0 0 MTMR8 55613 broad.mit.edu 37 X 63551561 63551561 + Missense_Mutation SNP T T A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:63551561T>A ENST00000374852.3 - 11 1295 c.1228A>T c.(1228-1230)Atg>Ttg p.M410L MTMR8_ENST00000453546.1_Intron|MTMR8_ENST00000478487.1_5'UTR NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 410 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 AACTGTTCCATTAATTGCCAG 0.438000 4 39 0 0 0.000248 0 0 SRCAP 10847 broad.mit.edu 37 16 30723672 30723672 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr16:30723672G>A ENST00000262518.4 + 13 2290 c.1905G>A c.(1903-1905)aaG>aaA p.K635K SRCAP_ENST00000395059.2_Silent_p.K635K|SRCAP_ENST00000344771.4_Silent_p.K635K NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 635 Helicase ATP-binding. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TGTATGAGAAGAAGCTTAATG 0.532000 11 95 0 0 0.001368 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166069 140166069 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr5:140166069G>A ENST00000504120.2 + 1 194 c.194G>A c.(193-195)cGg>cAg p.R65Q PCDHA1_ENST00000378133.3_Missense_Mutation_p.R65Q|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R65Q NM_018900.2 NP_061723.1 p.R65L(2) breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCTGTTCCGGGTGGCGTCC 0.587000 17 105 0 0 0.004990 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb 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) 8 42 0 0 0.003080 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105367220 105367220 + Missense_Mutation SNP T T G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr8:105367220T>G ENST00000297581.2 + 3 1194 c.1145T>G c.(1144-1146)gTt>gGt p.V382G DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 382 osteoclast differentiation cell surface|integral to membrane|plasma membrane CCTCTCAGTGTTATTCTTTTG 0.403000 3 77 0 0 0.004672 0 0 GALNT6 11226 broad.mit.edu 37 12 51752036 51752036 + Missense_Mutation SNP C C A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr12:51752036C>A ENST00000543196.2 - 8 1583 c.1378G>T c.(1378-1380)Ggt>Tgt p.G460C GALNT6_ENST00000356317.3_Missense_Mutation_p.G460C Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 460 protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GAAATGTCACCGAAGGATTTC 0.473000 10 89 2.80697e-09 5.77135e-09 0.000978 1 0 HRAS 3265 broad.mit.edu 37 11 534288 534288 + Missense_Mutation SNP C C T rs104894230 TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr11:534288C>T ENST00000417302.1 - 2 222 c.35G>A c.(34-36)gGc>gAc p.G12D HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G12D NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 12 G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12V(252)|p.G12D(48)|p.G12A(9) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GCCCACACCGCCGGCGCCCAC 0.647000 G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 5 40 0 0 0.000602 0 0 GLI2 2736 broad.mit.edu 37 2 121748215 121748215 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:121748215C>T ENST00000452319.1 + 14 4785 c.4725C>T c.(4723-4725)ctC>ctT p.L1575L GLI2_ENST00000361492.4_Silent_p.L1575L P10070 GLI2_HUMAN GLI family zinc finger 2 1575 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TCACCAGCCTCGCCGAGGAGA 0.647000 14 104 0 0 0.002450 0 0 FAM73A 374986 broad.mit.edu 37 1 78325024 78325024 + Missense_Mutation SNP G G C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:78325024G>C ENST00000370791.3 + 10 1173 c.1141G>C c.(1141-1143)Gac>Cac p.D381H FAM73A_ENST00000443751.2_Missense_Mutation_p.D343H NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 381 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) GTGCCTAGGAGACAGTGATTT 0.383000 8 55 0 0 0.003080 0 0 SOX13 9580 broad.mit.edu 37 1 204085730 204085730 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:204085730G>A ENST00000367204.1 + 5 623 c.514G>A c.(514-516)Gag>Aag p.E172K SOX13_ENST00000367203.4_3'UTR NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 172 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) AGCCCACTCGGAGCAGAAGAA 0.597000 7 77 0 0 0.001984 0 0 FBXO11 80204 broad.mit.edu 37 2 48035487 48035487 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:48035487C>G ENST00000403359.3 - 22 2707 c.2635G>C c.(2635-2637)Gag>Cag p.E879Q FBXO11_ENST00000402508.1_Missense_Mutation_p.E795Q|FBXO11_ENST00000316377.4_Missense_Mutation_p.E795Q|FBXO11_ENST00000405808.1_Missense_Mutation_p.E33Q|FBXO11_ENST00000434523.2_Missense_Mutation_p.E303Q NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 879 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTAATAAACTCTACATCATGT 0.353000 """Mis, F, D""" DLBCL 5 56 0 0 0.000602 0 0 DHX38 9785 broad.mit.edu 37 16 72137934 72137934 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr16:72137934C>T ENST00000268482.3 + 14 2423 c.1914C>T c.(1912-1914)ctC>ctT p.L638L DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 638 Helicase ATP-binding. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) GAGAGTCCCTCCGGGAAGCCG 0.577000 9 87 0 0 0.004482 0 0 KCNC2 3747 broad.mit.edu 37 12 75601707 75601707 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr12:75601707G>A ENST00000549446.1 - 2 737 c.57C>T c.(55-57)caC>caT p.H19H KCNC2_ENST00000341669.3_Silent_p.H19H|KCNC2_ENST00000298972.1_Silent_p.H19H|KCNC2_ENST00000350228.2_Silent_p.H19H|KCNC2_ENST00000393288.2_Silent_p.H19H|KCNC2_ENST00000548513.1_Silent_p.H19H|KCNC2_ENST00000550433.1_Silent_p.H19H|KCNC2_ENST00000540018.1_Silent_p.H19H NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 19 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 GGTAGGTTTCGTGCCGGGTGC 0.632000 5 65 0 0 0.000602 0 0 PAPOLA 10914 broad.mit.edu 37 14 96994296 96994296 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr14:96994296G>A ENST00000216277.8 + 6 668 c.448G>A c.(448-450)Gaa>Aaa p.E150K PAPOLA_ENST00000392990.2_Missense_Mutation_p.E150K|PAPOLA_ENST00000557320.1_Missense_Mutation_p.E150K|PAPOLA_ENST00000557471.1_Missense_Mutation_p.E150K|PAPOLA_ENST00000554130.1_3'UTR NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 150 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) ATAGGCTGTTGAAGAGGCATT 0.353000 24 100 0 0 0.005443 0 0 KRT27 342574 broad.mit.edu 37 17 38933275 38933275 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr17:38933275C>G ENST00000301656.3 - 8 1396 c.1356G>C c.(1354-1356)aaG>aaC p.K452N KRT27_ENST00000540723.1_5'UTR NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 452 Tail. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) TCTGTTCATTCTTGTTGTTGA 0.433000 14 55 0 0 0.002450 0 0 RAD51AP1 10635 broad.mit.edu 37 12 4668097 4668097 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr12:4668097C>T ENST00000228843.9 + 10 1047 c.997C>T c.(997-999)Cgc>Tgc p.R333C RAD51AP1_ENST00000352618.4_Missense_Mutation_p.R316C|RAD51AP1_ENST00000544927.1_3'UTR|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.R214C|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.R283C NM_001130862.1 NP_001124334.1 Q96B01 R51A1_HUMAN RAD51 associated protein 1 333 Interaction with RAD51. double-strand break repair via homologous recombination double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) TCAGAGTCTCCGCCTTGGCTT 0.498000 8 89 0 0 0.003080 0 0 CETN1 1068 broad.mit.edu 37 18 580651 580651 + Silent SNP G G T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr18:580651G>T ENST00000327228.3 + 1 285 c.243G>T c.(241-243)acG>acT p.T81T NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 81 EF-hand 2. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 GGGAAGGCACGGGGAAGATCA 0.537000 5 52 3.59834e-05 7.19667e-05 0.001168 1 0 AGPAT5 55326 broad.mit.edu 37 8 6566210 6566210 + Silent SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr8:6566210C>G ENST00000285518.6 + 1 333 c.21C>G c.(19-21)ctC>ctG p.L7L NM_018361.3 NP_060831.2 Q9NUQ2 PLCE_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 5 7 phospholipid biosynthetic process integral to membrane|mitochondrion 1-acylglycerol-3-phosphate O-acyltransferase activity AGPAT5/MCPH1(2) endometrium(2)|kidney(2)|large_intestine(4)|lung(3) 11 STAD - Stomach adenocarcinoma(24;0.0578) READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191) CCCTGGTGCTCCACACGTACT 0.726000 OREG0007035 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=AGPAT5|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 3 23 0 0 0.004672 0 0 ARID2 196528 broad.mit.edu 37 12 46285669 46285669 + Nonsense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr12:46285669C>T ENST00000334344.6 + 17 5201 c.5029C>T c.(5029-5031)Cga>Tga p.R1677* ARID2_ENST00000457135.1_Nonsense_Mutation_p.R285*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R1528*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R1287*|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1677 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GCCTTTTCAGCGACAGCGGTT 0.413000 """N, S, F""" hepatocellular carcinoma 9 92 0 0 0.004482 0 0 ABCC6 368 broad.mit.edu 37 16 16302657 16302657 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr16:16302657C>T ENST00000205557.7 - 7 751 c.722G>A c.(721-723)aGa>aAa p.R241K ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 241 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GGAGTTTTCTCTCCCAAGCGA 0.552000 6 58 0 0 0.004482 0 0 ZNF518A 9849 broad.mit.edu 37 10 97917735 97917735 + RNA SNP T T C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr10:97917735T>C ENST00000534948.1 + 0 2513 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) GTGTATCTTCTTTGTCAGCAA 0.338000 7 72 0 0 0.001984 0 0 IGHA2 3494 broad.mit.edu 37 14 106053596 106053596 + RNA SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr14:106053596G>A ENST00000390539.2 - 0 700 GCACGTCAGCGTCACCAGCTC 0.667000 7 62 0 0 0.001984 0 0 SLC38A10 124565 broad.mit.edu 37 17 79226904 79226904 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr17:79226904C>T ENST00000374759.3 - 12 1808 c.1425G>A c.(1423-1425)ccG>ccA p.P475P SLC38A10_ENST00000288439.5_Silent_p.P475P NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 475 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GTGCCTCCTCCGGTGCCTCCT 0.682000 OREG0024813 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 118 0 0 0.001855 0 0 KCTD1 284252 broad.mit.edu 37 18 24081097 24081097 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr18:24081097C>G ENST00000417602.1 - 2 1926 c.1927G>C c.(1927-1929)Gat>Cat p.D643H KCTD1_ENST00000580059.1_Missense_Mutation_p.D35H|KCTD1_ENST00000579973.1_Missense_Mutation_p.D35H|KCTD1_ENST00000408011.3_Missense_Mutation_p.D35H|KCTD1_ENST00000317932.7_Missense_Mutation_p.D35H NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 35 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) CCGCCCACATCAATGTGGACA 0.507000 6 109 0 0 0.001168 0 0 CIAO1 9391 broad.mit.edu 37 2 96933588 96933588 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:96933588G>A ENST00000488633.1 + 4 634 c.415G>A c.(415-417)Gag>Aag p.E139K NM_004804.2 NP_004795.1 O76071 CIAO1_HUMAN cytosolic iron-sulfur protein assembly 1 139 chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 5 TGAAGAGGATGAGTATGAATG 0.537000 5 64 0 0 0.000602 0 0 KRT83 3889 broad.mit.edu 37 12 52709762 52709762 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr12:52709762C>T ENST00000293670.3 - 7 1239 c.1177G>A c.(1177-1179)Gag>Aag p.E393K AC121757.1_ENST00000594763.1_Intron NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 393 Coil 2.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TCCTGGTACTCCCTGATCAGG 0.647000 9 123 0 0 0.004482 0 0 ADCY4 196883 broad.mit.edu 37 14 24795367 24795367 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr14:24795367G>A ENST00000310677.4 - 13 1686 c.1573C>T c.(1573-1575)Cgt>Tgt p.R525C ADCY4_ENST00000554068.2_Missense_Mutation_p.R525C|ADCY4_ENST00000396747.3_Missense_Mutation_p.R218C|ADCY4_ENST00000418030.2_Missense_Mutation_p.R525C NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 525 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding p.R525C(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) CGGGGGGTACGGCTCCTGCAC 0.587000 8 48 0 0 0.004482 0 0 MAN2A2 4122 broad.mit.edu 37 15 91448552 91448552 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr15:91448552C>T ENST00000360468.3 + 2 222 c.204C>T c.(202-204)atC>atT p.I68I MAN2A2_ENST00000559717.1_Silent_p.I68I NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 68 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) ATGAGATTATCAGCCATATCA 0.552000 11 107 0 0 0.000978 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677063 37677063 + Missense_Mutation SNP A A C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr19:37677063A>C ENST00000532828.2 - 5 1627 c.1376T>G c.(1375-1377)aTt>aGt p.I459S CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.I404S|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.I47S NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCCTGTGTGAATTCGTTTATG 0.373000 13 119 0 0 0.001855 0 0 OR4L1 122742 broad.mit.edu 37 14 20529070 20529070 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr14:20529070G>A ENST00000315683.1 + 1 867 c.867G>A c.(865-867)ctG>ctA p.L289L NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TTTATACCCTGAGAAATAAGA 0.328000 12 71 0 0 0.001368 0 0 OR4K5 79317 broad.mit.edu 37 14 20389087 20389087 + Missense_Mutation SNP A A C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr14:20389087A>C ENST00000315915.4 + 1 347 c.322A>C c.(322-324)Act>Cct p.T108P NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCACCTTTTTACTGGAGGGGA 0.428000 18 241 0 0 0.006122 0 0 OR51A2 401667 broad.mit.edu 37 11 4976514 4976514 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr11:4976514C>T ENST00000380371.1 - 1 429 c.430G>A c.(430-432)Gcc>Acc p.A144T MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTATTTGGGCAACTCTGACA 0.423000 34 121 0 0 0.004289 0 0 POU6F1 5463 broad.mit.edu 37 12 51584078 51584078 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr12:51584078G>A ENST00000389243.4 - 11 1797 c.858C>T c.(856-858)cgC>cgT p.R286R POU6F1_ENST00000333640.10_Silent_p.R286R|POU6F1_ENST00000550824.1_Silent_p.R286R Q14863 PO6F1_HUMAN POU class 6 homeobox 1 286 brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 TGAGCGTCTGGCGCCGATTGC 0.552000 11 71 0 0 0.000978 0 0 PLCG2 5336 broad.mit.edu 37 16 81929467 81929467 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr16:81929467G>A ENST00000359376.3 + 13 1342 c.1128G>A c.(1126-1128)cgG>cgA p.R376R NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 376 PI-PLC X-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GCTGGACGCGGACTACCAAGA 0.557000 16 96 0 0 0.004007 0 0 CRAT 1384 broad.mit.edu 37 9 131864310 131864310 + Silent SNP A A G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr9:131864310A>G ENST00000318080.2 - 6 951 c.657T>C c.(655-657)agT>agC p.S219S CRAT_ENST00000464290.1_5'UTR NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 219 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) GTGTCCCGTCACTGTGGTACA 0.572000 5 31 0 0 0.001168 0 0 F8 2157 broad.mit.edu 37 X 154128150 154128150 + Silent SNP A A C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:154128150A>C ENST00000360256.4 - 21 6464 c.6264T>G c.(6262-6264)tcT>tcG p.S2088S NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2088 F5/8 type C 1. S -> F (in HEMA; severe). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CCTTGATCCAAGAAAAGGGCT 0.413000 4 34 0 0 0.000602 0 0 PHLPP2 23035 broad.mit.edu 37 16 71683624 71683624 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr16:71683624G>A ENST00000393524.2 - 17 3673 c.2940C>T c.(2938-2940)ctC>ctT p.L980L PHLPP2_ENST00000356272.3_Silent_p.L1047L|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000568954.1_Silent_p.L1047L|PHLPP2_ENST00000567016.1_Silent_p.L1082L Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 1047 PP2C-like. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 CTGGGAGGGTGAGCCCATTCA 0.512000 19 153 0 0 0.007413 0 0 LRP2 4036 broad.mit.edu 37 2 170050337 170050337 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:170050337C>T ENST00000263816.3 - 47 9049 c.8764G>A c.(8764-8766)Gaa>Aaa p.E2922K NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2922 LDL-receptor class A 21. 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) CAGATCCATTCGCTTGGGATG 0.458000 18 73 0 0 0.008871 0 0 SLIT2 9353 broad.mit.edu 37 4 20611715 20611715 + Missense_Mutation SNP G G T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr4:20611715G>T ENST00000504154.1 + 34 4024 c.3772G>T c.(3772-3774)Ggt>Tgt p.G1258C SLIT2_ENST00000273739.5_Missense_Mutation_p.G1271C|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1254C|SLIT2_ENST00000503823.1_Missense_Mutation_p.G1250C NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1258 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GTCCGTGGATGGTGGGAACCC 0.433000 8 54 0.00307968 0.00610387 0.003080 1 0 PNPLA3 80339 broad.mit.edu 37 22 44340652 44340652 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr22:44340652G>A ENST00000216180.3 + 8 1367 c.1194G>A c.(1192-1194)ctG>ctA p.L398L PNPLA3_ENST00000423180.2_Silent_p.L394L NM_025225.2 NP_079501.2 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 398 triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2) 19 Ovarian(80;0.024)|all_neural(38;0.0416) CTCGAGTGCTGATGTGTCTGC 0.562000 15 85 0 0 0.004007 0 0 WDR70 55100 broad.mit.edu 37 5 37605304 37605304 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr5:37605304G>A ENST00000265107.4 + 10 1212 c.1056G>A c.(1054-1056)caG>caA p.Q352Q WDR70_ENST00000504564.1_Silent_p.Q352Q|WDR70_ENST00000510699.1_3'UTR NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 352 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTGCCTGCCAGAATGGAAGCA 0.413000 7 34 0 0 0.001984 0 0 MARCH4 57574 broad.mit.edu 37 2 217124235 217124235 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:217124235G>A ENST00000273067.4 - 4 2799 c.1033C>T c.(1033-1035)Ccc>Tcc p.P345S NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 345 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) TCCGAGGAGGGGATATTGGCC 0.632000 5 29 0 0 0.000602 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751849 140751849 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr5:140751849C>T ENST00000576222.1 + 1 2019 c.1888C>T c.(1888-1890)Cgt>Tgt p.R630C PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCACGGCGCGTACCTTGGG 0.662000 11 98 0 0 0.008291 0 0 ELP3 55140 broad.mit.edu 37 8 27995259 27995259 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr8:27995259C>T ENST00000256398.8 + 10 1328 c.951C>T c.(949-951)ctC>ctT p.L317L ELP3_ENST00000521015.1_Silent_p.L303L|ELP3_ENST00000542181.1_Silent_p.L188L|ELP3_ENST00000380353.4_Silent_p.L225L|ELP3_ENST00000524103.1_Silent_p.L245L|ELP3_ENST00000537665.1_Silent_p.L198L NM_018091.5 NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 317 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) GGCTGAAACTCTATCCTACCC 0.458000 6 72 0 0 0.001984 0 0 DNAJC1 64215 broad.mit.edu 37 10 22048479 22048479 + Missense_Mutation SNP A A C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr10:22048479A>C ENST00000376980.3 - 11 1506 c.1216T>G c.(1216-1218)Ttg>Gtg p.L406V DNAJC1_ENST00000483085.1_5'UTR NM_022365.3 NP_071760.2 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 406 negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) TCATCGGGCAAGGTGGTGGCC 0.587000 9 51 0 0 0.004482 0 0 FAT1 2195 broad.mit.edu 37 4 187628809 187628809 + Nonsense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr4:187628809G>A ENST00000441802.2 - 2 2382 c.2173C>T c.(2173-2175)Cag>Tag p.Q725* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 725 Cadherin 6. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCCTTTACCTGAATACCAGTC 0.443000 HNSCC(5;0.00058) 9 45 0 0 0.004482 0 0 XIRP1 165904 broad.mit.edu 37 3 39230363 39230363 + Silent SNP T T G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr3:39230363T>G ENST00000340369.3 - 2 802 c.574A>C c.(574-576)Agg>Cgg p.R192R XIRP1_ENST00000396251.1_Silent_p.R192R|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 192 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AAGAGCATCCTGGTACCCTGC 0.632000 7 75 0 0 0.001984 0 0 ALDOB 229 broad.mit.edu 37 9 104187258 104187258 + Missense_Mutation SNP A A C rs118204425 TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr9:104187258A>C ENST00000374855.4 - 8 990 c.866T>G c.(865-867)cTt>cGt p.L289R NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 289 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) TAGAGGGCAAAGGTTGATAGC 0.522000 3 66 0 0 0.000248 0 0 NSD1 64324 broad.mit.edu 37 5 176715829 176715829 + Missense_Mutation SNP T T G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr5:176715829T>G ENST00000439151.2 + 21 6206 c.6161T>G c.(6160-6162)cTt>cGt p.L2054R NSD1_ENST00000361032.4_Missense_Mutation_p.L1951R|NSD1_ENST00000354179.4_Missense_Mutation_p.L1785R|NSD1_ENST00000347982.4_Missense_Mutation_p.L1785R NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2054 SET. 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) GGCACTGAACTTACCTTCAAC 0.393000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 4 86 0 0 0.000602 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269980 150269980 + Missense_Mutation SNP G G C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr7:150269980G>C ENST00000255945.2 + 3 997 c.822G>C c.(820-822)aaG>aaC p.K274N GIMAP4_ENST00000461940.1_Missense_Mutation_p.K288N|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 274 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCAGGAAAAGAGAAAGAAGC 0.463000 3 20 0 0 0.004672 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 6 84 1.06961e-07 2.1688e-07 0.003080 1 0 KAAG1 353219 broad.mit.edu 37 6 24357946 24357946 + Nonsense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:24357946C>T ENST00000274766.1 + 1 816 c.79C>T c.(79-81)Cag>Tag p.Q27* DCDC2_ENST00000378454.3_Silent_p.L11L NM_181337.3 NP_851854.1 Q9UBP8 KAAG1_HUMAN kidney associated antigen 1 27 immune response central_nervous_system(1)|lung(1)|prostate(1) 3 CGGGCTGAGACAGGTGGCTGG 0.687000 11 64 0 0 0.008291 0 0 OR8H1 219469 broad.mit.edu 37 11 56058468 56058468 + Missense_Mutation SNP T T G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr11:56058468T>G ENST00000313022.2 - 1 98 c.71A>C c.(70-72)cAg>cCg p.Q24P NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) GAGGGCCATCTGGACCTCTTC 0.423000 8 96 0 0 0.004482 0 0 GABRB3 2562 broad.mit.edu 37 15 26806250 26806250 + Silent SNP G G C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr15:26806250G>C ENST00000541819.2 - 9 1179 c.1077C>G c.(1075-1077)gtC>gtG p.V359V GABRB3_ENST00000400188.3_Silent_p.V232V|GABRB3_ENST00000299267.4_Silent_p.V303V|GABRB3_ENST00000545868.1_Silent_p.V218V|GABRB3_ENST00000311550.5_Silent_p.V303V P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 303 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAATGGCTTTGACATAGGGGA 0.478000 13 94 0 0 0.004990 0 0 FREM2 341640 broad.mit.edu 37 13 39264178 39264178 + Silent SNP A A G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr13:39264178A>G ENST00000280481.7 + 1 2913 c.2697A>G c.(2695-2697)cgA>cgG p.R899R NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 899 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AACAGGGCCGAGTTTCCTATG 0.512000 4 36 0 0 0.000248 0 0 DSG1 1828 broad.mit.edu 37 18 28914090 28914090 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr18:28914090C>G ENST00000257192.4 + 8 1142 c.930C>G c.(928-930)atC>atG p.I310M NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 310 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TTTTCTTTATCTCTGGAAATG 0.294000 9 71 0 0 0.004482 0 0 GPR151 134391 broad.mit.edu 37 5 145895392 145895392 + Silent SNP T T C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr5:145895392T>C ENST00000311104.2 - 1 361 c.285A>G c.(283-285)cgA>cgG p.R95R NM_194251.2 NP_919227.2 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 95 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACGCCGTAGCTCGGATAGGTG 0.502000 11 68 0 0 0.001368 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90665380 90665380 + Missense_Mutation SNP T T A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr10:90665380T>A ENST00000371927.3 + 3 1169 c.211T>A c.(211-213)Ttg>Atg p.L71M STAMBPL1_ENST00000371926.3_Missense_Mutation_p.L71M|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.L71M Q96FJ0 STALP_HUMAN STAM binding protein-like 1 71 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) AGAAGGAAATTTGGAAAATGC 0.338000 9 43 0 0 0.008291 0 0 MYOM1 8736 broad.mit.edu 37 18 3188908 3188908 + Silent SNP T T C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr18:3188908T>C ENST00000356443.4 - 4 942 c.609A>G c.(607-609)acA>acG p.T203T MYOM1_ENST00000261606.7_Silent_p.T203T|MYOM1_ENST00000400569.3_Silent_p.T203T NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 203 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.T203T(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCTTGGATGCTGTGGACTGCT 0.532000 4 95 0 0 0.000248 0 0 IL27RA 9466 broad.mit.edu 37 19 14161619 14161619 + Silent SNP C C A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr19:14161619C>A ENST00000263379.2 + 11 1577 c.1452C>A c.(1450-1452)ccC>ccA p.P484P NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 484 Fibronectin type-III 3. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 CTTGGGGTCCCTGTGAGCTGT 0.592000 4 33 0.000602214 0.00119898 0.000602 1 0 NOX1 27035 broad.mit.edu 37 X 100098950 100098950 + Missense_Mutation SNP T T G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:100098950T>G ENST00000372966.3 - 13 1891 c.1686A>C c.(1684-1686)gaA>gaC p.E562D NOX1_ENST00000217885.5_Missense_Mutation_p.E513D|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.E525D NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 562 angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 CTCAAAAATTTTCTTTGTTGA 0.408000 3 32 0 0 0.004672 0 0 LIPA 3988 broad.mit.edu 37 10 91005441 91005441 + Missense_Mutation SNP G G C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr10:91005441G>C ENST00000336233.5 - 3 543 c.221C>G c.(220-222)tCt>tGt p.S74C LIPA_ENST00000456827.1_Missense_Mutation_p.S74C|LIPA_ENST00000371837.1_Intron P38571 LICH_HUMAN lipase A, lysosomal acid, cholesterol esterase 74 lipid catabolic process lysosome lipase activity|sterol esterase activity endometrium(1)|large_intestine(2)|lung(3) 6 Colorectal(252;0.0162) GBM - Glioblastoma multiforme(2;0.00406) ACCTTTGTCAGAATGGTTCTT 0.383000 11 91 0 0 0.008291 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926538 22926538 + Nonsense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr16:22926538C>G ENST00000261374.3 + 2 1193 c.759C>G c.(757-759)taC>taG p.Y253* NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 253 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) TCGGCATGTACGTGCTGCACC 0.632000 13 134 0 0 0.001855 0 0 MTA1 9112 broad.mit.edu 37 14 105916417 105916417 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr14:105916417G>A ENST00000331320.7 + 5 478 c.264G>A c.(262-264)gaG>gaA p.E88E MTA1_ENST00000406191.1_Silent_p.E88E|MTA1_ENST00000405646.1_Silent_p.E71E NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 88 BAH. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) AGGAAATGGAGAACCCGGAAA 0.627000 10 66 0 0 0.006214 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156618130 156618130 + Silent SNP A A G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr4:156618130A>G ENST00000296518.7 + 3 320 c.111A>G c.(109-111)tcA>tcG p.S37S GUCY1A3_ENST00000511108.1_Silent_p.S37S|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511507.1_Silent_p.S37S|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Silent_p.S37S|GUCY1A3_ENST00000513574.1_Silent_p.S37S|GUCY1A3_ENST00000455639.2_Silent_p.S37S Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 37 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CAGGAAGCTCAGAGAGCTGCA 0.493000 6 51 0 0 0.001168 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307506 39307506 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr3:39307506G>A ENST00000541347.1 - 2 734 c.495C>T c.(493-495)ttC>ttT p.F165F CX3CR1_ENST00000542107.1_Silent_p.F165F|CX3CR1_ENST00000358309.3_Silent_p.F197F|CX3CR1_ENST00000399220.2_Silent_p.F165F NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 165 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) TTGTGAACATGAACTGGGGTG 0.547000 13 99 0 0 0.001368 0 0 BCS1L 617 broad.mit.edu 37 2 219527683 219527683 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:219527683G>A ENST00000431802.1 + 7 1666 c.967G>A c.(967-969)Gag>Aag p.E323K BCS1L_ENST00000439945.1_Missense_Mutation_p.E323K|BCS1L_ENST00000412366.1_Missense_Mutation_p.E323K|BCS1L_ENST00000392109.1_Missense_Mutation_p.E323K|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392110.2_Missense_Mutation_p.E323K|BCS1L_ENST00000359273.3_Missense_Mutation_p.E323K|BCS1L_ENST00000392111.2_Missense_Mutation_p.E323K Q9Y276 BCS1_HUMAN BC1 (ubiquinol-cytochrome c reductase) synthesis-like 323 mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain complex III ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 8 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCTTCCACCGAGGCCCGCAT 0.567000 14 100 0 0 0.001855 0 0 PLXNA3 55558 broad.mit.edu 37 X 153696341 153696341 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:153696341G>A ENST00000369682.3 + 21 3992 c.3817G>A c.(3817-3819)Gaa>Aaa p.E1273K NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1273 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGAGTGCAAGGAAGGTGCCTG 0.642000 13 55 0 0 0.001855 0 0 NHLRC1 378884 broad.mit.edu 37 6 18121917 18121917 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:18121917C>T ENST00000340650.3 - 1 934 c.921G>A c.(919-921)gtG>gtA p.V307V NM_198586.2 NP_940988.2 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 307 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) CAAAGGTATCCACTTGGCCGA 0.547000 16 61 0 0 0.004007 0 0 HLA-A 3105 broad.mit.edu 37 6 29910405 29910405 + Splice_Site SNP T T G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:29910405T>G ENST00000396634.1 + 3 414 c.e3+2 HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site P30443 1A01_HUMAN major histocompatibility complex, class I, A antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CCTGGGCGGGTGAGTGCGGGG 0.736000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 11 45 0 0 0.000978 0 0 MAP3K19 80122 broad.mit.edu 37 2 135744823 135744823 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:135744823G>A ENST00000375845.3 - 7 1649 c.1619C>T c.(1618-1620)tCa>tTa p.S540L MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S427L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S557L|MAP3K19_ENST00000392917.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 CTTGGTCTTTGAATCCAACTT 0.368000 9 79 0 0 0.004482 0 0 CAPN13 92291 broad.mit.edu 37 2 30961324 30961324 + Splice_Site SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:30961324C>T ENST00000295055.8 - 16 1713 c.e16-1 CAPN13_ENST00000534090.2_Splice_Site NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TGTCCAGCCTCTGATCCAAAC 0.527000 3 16 0 0 0.004672 0 0 GOLGA4 2803 broad.mit.edu 37 3 37388711 37388711 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr3:37388711C>T ENST00000361924.2 + 21 6874 c.6500C>T c.(6499-6501)tCa>tTa p.S2167L GOLGA4_ENST00000356847.4_Missense_Mutation_p.S2182L|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 2167 Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 ACGGATGTCTCACTCTTTGGA 0.343000 6 61 0 0 0.001168 0 0 NMB 4828 broad.mit.edu 37 15 85201312 85201312 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr15:85201312G>A ENST00000394588.3 - 1 482 c.72C>T c.(70-72)gtC>gtT p.V24V NMB_ENST00000360476.3_Silent_p.V24V NM_021077.3|NM_205858.1 NP_066563.2|NP_995580.1 P08949 NMB_HUMAN neuromedin B 24 cell-cell signaling|neuropeptide signaling pathway extracellular region|soluble fraction hormone activity endometrium(1) 1 all cancers(203;3.5e-06) TGAGCGGGGCGACGCCGGCAG 0.726000 5 17 0 0 0.000602 0 0 HTR1E 3354 broad.mit.edu 37 6 87725377 87725377 + Missense_Mutation SNP T T C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:87725377T>C ENST00000305344.4 + 2 1028 c.325T>C c.(325-327)Tcc>Ccc p.S109P HTR1E_ENST00000369584.1_Missense_Mutation_p.S109P NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 109 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CTGCACCTGCTCCATCCTCCA 0.562000 10 89 0 0 0.000978 0 0 DNAH17 8632 broad.mit.edu 37 17 76539977 76539977 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr17:76539977C>T ENST00000389840.5 - 17 2618 c.2494G>A c.(2494-2496)Gtc>Atc p.V832I DNAH17_ENST00000585328.1_Missense_Mutation_p.V832I dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCATCCCTGACTGCTGCGTAG 0.498000 28 196 0 0 0.001786 0 0 OR10H4 126541 broad.mit.edu 37 19 16060277 16060277 + Missense_Mutation SNP T T G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr19:16060277T>G ENST00000322107.1 + 1 460 c.460T>G c.(460-462)Tca>Gca p.S154A NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 GGCTGGTGGCTCAGTCATGGG 0.512000 20 112 0 0 0.007413 0 0 EPB41L3 23136 broad.mit.edu 37 18 5419910 5419910 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr18:5419910C>G ENST00000540638.2 - 12 1739 c.1360G>C c.(1360-1362)Gaa>Caa p.E454Q EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E454Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E454Q|EPB41L3_ENST00000342933.3_Intron|EPB41L3_ENST00000341928.2_Intron Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 446 Hydrophilic. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 ATGTATATTTCATGGTTTTCA 0.373000 10 78 0 0 0.006214 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 16 0 0 0.004672 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608430 112608430 + Missense_Mutation SNP T T C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:112608430T>C ENST00000341068.3 - 14 2345 c.1573A>G c.(1573-1575)Atg>Gtg p.M525V NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 525 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCCGAGGCATTGTGTTGGAC 0.438000 8 33 0 0 0.003080 0 0 AXIN2 8313 broad.mit.edu 37 17 63533163 63533163 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr17:63533163G>A ENST00000307078.5 - 7 2044 c.1731C>T c.(1729-1731)acC>acT p.T577T AXIN2_ENST00000375702.5_Intron NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 577 Missing (in Ref. 2; AAF22799). cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GTTTGGGCAAGGTACTGCCTC 0.652000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 5 19 0 0 0.000602 0 0 AGXT2 64902 broad.mit.edu 37 5 35037140 35037140 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr5:35037140G>A ENST00000231420.6 - 4 593 c.393C>T c.(391-393)ctC>ctT p.L131L NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 131 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) ACAGGCGGCCGAGCTGCTTTT 0.532000 10 59 0 0 0.000978 0 0 ZBTB41 360023 broad.mit.edu 37 1 197128556 197128556 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:197128556C>T ENST00000367405.4 - 10 2731 c.2663G>A c.(2662-2664)gGa>gAa p.G888E ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 888 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 CAGTAATGTTCCAAGATAAGA 0.373000 15 89 0 0 0.002450 0 0 TAF1L 138474 broad.mit.edu 37 9 32633618 32633618 + Missense_Mutation SNP A A C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr9:32633618A>C ENST00000242310.4 - 1 2049 c.1960T>G c.(1960-1962)Tca>Gca p.S654A RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 654 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GGTTGGACTGAATGGGGACCT 0.498000 5 136 0 0 0.000602 0 0 SRSF7 6432 broad.mit.edu 37 2 38976747 38976747 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:38976747C>T ENST00000313117.6 - 3 547 c.310G>A c.(310-312)Gat>Aat p.D104N SRSF7_ENST00000409276.1_Missense_Mutation_p.D104N|SRSF7_ENST00000446327.2_Missense_Mutation_p.D104N NM_001031684.2|NM_001195446.1 NP_001026854.1|NP_001182375.1 Q16629 SRSF7_HUMAN serine/arginine-rich splicing factor 7 104 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TAGCATCTATCATTTGGATCA 0.463000 13 54 0 0 0.002450 0 0 PDCD11 22984 broad.mit.edu 37 10 105205279 105205279 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr10:105205279G>A ENST00000369797.3 + 36 5683 c.5589G>A c.(5587-5589)gaG>gaA p.E1863E NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1863 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) AGTATGTGGAGGCCAAGAGCT 0.597000 7 51 0 0 0.001984 0 0 ORC6 23594 broad.mit.edu 37 16 46726320 46726320 + Missense_Mutation SNP G G C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr16:46726320G>C ENST00000566860.1 + 2 362 c.75G>C c.(73-75)ttG>ttC p.L25F ORC6_ENST00000568364.2_Missense_Mutation_p.L74F|ORC6_ENST00000219097.2_Missense_Mutation_p.L74F Q9Y5N6 ORC6_HUMAN origin recognition complex, subunit 6 74 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 8 TTTCTGGTTTGAACAAGGAGA 0.323000 11 69 0 0 0.008291 0 0 OSBP2 23762 broad.mit.edu 37 22 31285493 31285493 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr22:31285493C>T ENST00000332585.6 + 7 1597 c.1493C>T c.(1492-1494)tCg>tTg p.S498L OSBP2_ENST00000535268.1_Missense_Mutation_p.S42L|OSBP2_ENST00000407373.1_Missense_Mutation_p.S325L|OSBP2_ENST00000446658.2_Missense_Mutation_p.S497L|OSBP2_ENST00000437268.2_Missense_Mutation_p.S240L|OSBP2_ENST00000403222.3_Missense_Mutation_p.S332L|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000401475.1_Missense_Mutation_p.S131L NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 498 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 GATGGTGCCTCGCTCGTGCCC 0.577000 18 178 0 0 0.007413 0 0 SOX14 8403 broad.mit.edu 37 3 137483941 137483941 + Silent SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr3:137483941C>G ENST00000306087.1 + 1 363 c.315C>G c.(313-315)ctC>ctG p.L105L NM_004189.3 NP_004180.1 O95416 SOX14_HUMAN SRY (sex determining region Y)-box 14 105 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding p.L105L(1) large_intestine(2)|lung(12) 14 CGGACCCGCTCAAGGCGGCTG 0.687000 7 39 0 0 0.004482 0 0 GPR123 84435 broad.mit.edu 37 10 134942326 134942326 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr10:134942326G>A ENST00000607359.1 + 16 3151 c.3151G>A c.(3151-3153)Gac>Aac p.D1051N GPR123_ENST00000392606.2_Missense_Mutation_p.D235N|GPR123_ENST00000392607.3_Missense_Mutation_p.D332N Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 332 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) CCCCGCACTTGACGCCAACGG 0.731000 8 37 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179481235 179481235 + Nonsense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:179481235G>A ENST00000589042.1 - 257 48507 c.48283C>T c.(48283-48285)Cga>Tga p.R16095* TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7155*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7222*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R14454*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R13527*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7030*|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14454 Ig-like 99. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGACTTCTCGTTTTTCAACA 0.433000 38 115 0 0 0.006230 0 0 NHLRC1 378884 broad.mit.edu 37 6 18122747 18122747 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:18122747C>G ENST00000340650.3 - 1 104 c.91G>C c.(91-93)Gag>Cag p.E31Q NM_198586.2 NP_940988.2 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 31 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) CCAAACTTCTCAAAGCACACC 0.706000 7 35 0 0 0.001984 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36039926 36039926 + Missense_Mutation SNP C C G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr14:36039926C>G ENST00000258840.6 - 39 6406 c.6016G>C c.(6016-6018)Gat>Cat p.D2006H RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1972H|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D1959H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1959H Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1959 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ATAGCACCATCAAAAAGGGGA 0.363000 3 24 0 0 0.004672 0 0 DDX26B 203522 broad.mit.edu 37 X 134690127 134690127 + Missense_Mutation SNP T T G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:134690127T>G ENST00000370752.4 + 9 1428 c.1094T>G c.(1093-1095)cTt>cGt p.L365R DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 365 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) TACAATGAACTTGGATATCCA 0.348000 7 95 0 0 0.001984 0 0 PHIP 55023 broad.mit.edu 37 6 79668289 79668289 + Nonsense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:79668289G>A ENST00000275034.4 - 32 3852 c.3685C>T c.(3685-3687)Cga>Tga p.R1229* PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1229 Bromo 1. 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) TCTATATATCGAACTTCCCAC 0.313000 6 42 0 0 0.001168 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 6 93 0 0 0.001984 0 0 ERAP2 64167 broad.mit.edu 37 5 96239261 96239261 + Missense_Mutation SNP T T C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr5:96239261T>C ENST00000437043.3 + 13 2720 c.2009T>C c.(2008-2010)gTt>gCt p.V670A CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.V625A NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 670 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) TTTCAGCTAGTTGGGTAAGGC 0.403000 4 38 0 0 0.000602 0 0 CDH20 28316 broad.mit.edu 37 18 59221475 59221475 + Silent SNP C C A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr18:59221475C>A ENST00000262717.4 + 12 2351 c.1953C>A c.(1951-1953)atC>atA p.I651I CDH20_ENST00000536675.2_Silent_p.I651I|CDH20_ENST00000538374.1_Silent_p.I651I Q9HBT6 CAD20_HUMAN cadherin 20, type 2 651 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) AACCATACATCATCGACGACG 0.567000 12 110 9.05144e-12 1.86978e-11 0.001855 1 0 PLEKHA3 65977 broad.mit.edu 37 2 179360322 179360322 + Missense_Mutation SNP G G C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:179360322G>C ENST00000234453.4 + 5 952 c.550G>C c.(550-552)Gag>Cag p.E184Q NM_019091.3 NP_061964.3 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 184 cytoplasm|membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) GTTTAAACCTGAGATGTTTCA 0.428000 18 121 0 0 0.004990 0 0 CCT4 10575 broad.mit.edu 37 2 62099641 62099641 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:62099641C>T ENST00000394440.3 - 11 1504 c.1208G>A c.(1207-1209)cGc>cAc p.R403H CCT4_ENST00000544185.1_Missense_Mutation_p.R253H|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000538252.1_Missense_Mutation_p.R347H|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Missense_Mutation_p.R373H NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 403 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) ATGAATGGAGCGCTCAGCTTC 0.363000 7 41 0 0 0.003080 0 0 PMPCA 23203 broad.mit.edu 37 9 139316332 139316332 + Missense_Mutation SNP A A T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr9:139316332A>T ENST00000371717.3 + 12 1321 c.1312A>T c.(1312-1314)Aac>Tac p.N438Y PMPCA_ENST00000399219.3_Missense_Mutation_p.N307Y NM_015160.1 NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 438 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) GCTCATGATGAACCTGGAATC 0.622000 11 71 0 0 0.000978 0 0 SH3D21 79729 broad.mit.edu 37 1 36785434 36785434 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:36785434C>T ENST00000453908.2 + 14 1198 c.1170C>T c.(1168-1170)ctC>ctT p.L390L SH3D21_ENST00000426732.2_Silent_p.L274L|SH3D21_ENST00000312808.4_Silent_p.L36L|SH3D21_ENST00000505871.1_Silent_p.L279L NM_001162530.1 NP_001156002.1 A4FU49 SH321_HUMAN SH3 domain containing 21 274 endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12 AGAAGACCCTCACTCTAGGGG 0.617000 12 47 0 0 0.000978 0 0 MTA1 9112 broad.mit.edu 37 14 105927207 105927207 + Missense_Mutation SNP G G C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr14:105927207G>C ENST00000331320.7 + 10 1073 c.859G>C c.(859-861)Gag>Cag p.E287Q MTA1_ENST00000406191.1_Missense_Mutation_p.E287Q|MTA1_ENST00000405646.1_Missense_Mutation_p.E270Q NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 287 SANT. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CGAGATGGAGGAGTGGTCTGC 0.562000 4 118 0 0 0.000248 0 0 ATM 472 broad.mit.edu 37 11 108121428 108121428 + Splice_Site SNP G G C rs79220522 TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr11:108121428G>C ENST00000278616.4 + 10 1621 c.1235_splice c.e10-1 p.W412_splice ATM_ENST00000452508.2_Splice_Site_p.W412_splice NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 412 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTTTTTTTAGGCTACAGATTG 0.318000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 6 32 0 0 0.004482 0 0 POLR3E 55718 broad.mit.edu 37 16 22320755 22320755 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr16:22320755G>A ENST00000299853.5 + 6 455 c.288G>A c.(286-288)ctG>ctA p.L96L POLR3E_ENST00000418581.2_Silent_p.L60L|POLR3E_ENST00000564209.1_Silent_p.L96L|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000359210.4_Silent_p.L96L NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 96 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) CCAGGAAGCTGATGGACAAGC 0.617000 39 291 0 0 0.002852 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192787 132192787 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr7:132192787G>A ENST00000359827.3 - 2 1628 c.666C>T c.(664-666)ttC>ttT p.F222F PLXNA4_ENST00000423507.2_Silent_p.F222F|PLXNA4_ENST00000378539.5_Silent_p.F222F|PLXNA4_ENST00000321063.4_Silent_p.F222F Q9HCM2 PLXA4_HUMAN plexin A4 222 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCGAGGCCACGAACTCATCAT 0.488000 7 102 0 0 0.001984 0 0 TTLL11 158135 broad.mit.edu 37 9 124751885 124751885 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr9:124751885G>A ENST00000321582.5 - 4 1315 c.1128C>T c.(1126-1128)tgC>tgT p.C376C TTLL11_ENST00000373776.3_Silent_p.C376C|TTLL11_ENST00000474723.1_5'UTR NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 376 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 GGAGAGGTTTGCAGATGTACT 0.493000 14 106 0 0 0.001855 0 0 MYBPC1 4604 broad.mit.edu 37 12 102064158 102064158 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr12:102064158G>A ENST00000549145.1 + 24 2702 c.2602G>A c.(2602-2604)Gaa>Aaa p.E868K MYBPC1_ENST00000545503.2_Missense_Mutation_p.E837K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E811K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E837K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E738K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E855K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E862K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E825K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E818K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E855K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E824K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E862K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E855K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E823K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E855K Q00872 MYPC1_HUMAN myosin binding protein C, slow type 855 Ig-like C2-type 6. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 CAGAGTTGGAGAAGCTGTCAA 0.443000 15 129 0 0 0.004990 0 0 CACHD1 57685 broad.mit.edu 37 1 65142628 65142628 + Missense_Mutation SNP A A G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:65142628A>G ENST00000371073.2 + 22 3026 c.3026A>G c.(3025-3027)gAc>gGc p.D1009G CACHD1_ENST00000290039.5_Missense_Mutation_p.D958G|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 1009 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ACAGCTATTGACCCTGGCCTG 0.532000 14 106 0 0 0.001855 0 0 JMJD1C 221037 broad.mit.edu 37 10 64967812 64967812 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr10:64967812G>A ENST00000399262.2 - 10 3835 c.3617C>T c.(3616-3618)gCa>gTa p.A1206V JMJD1C_ENST00000542921.1_Missense_Mutation_p.A1024V|JMJD1C_ENST00000402544.1_Missense_Mutation_p.A987V|JMJD1C_ENST00000399251.1_Missense_Mutation_p.A987V NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1206 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AAATACTGGTGCTCTATGTAA 0.438000 21 99 0 0 0.001882 0 0 MEGF10 84466 broad.mit.edu 37 5 126784914 126784914 + Splice_Site SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr5:126784914G>A ENST00000274473.6 + 23 3247 c.2980_splice c.e23+1 p.G994_splice MEGF10_ENST00000503335.2_Splice_Site_p.G994_splice|MEGF10_ENST00000510828.1_3'UTR NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 994 Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CAACGAGCTCGGTGAGTTCTC 0.532000 4 77 0 0 0.000248 0 0 EXD1 161829 broad.mit.edu 37 15 41476415 41476415 + Missense_Mutation SNP T T A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr15:41476415T>A ENST00000314992.5 - 10 1449 c.1259A>T c.(1258-1260)gAg>gTg p.E420V EXD1_ENST00000458580.2_Missense_Mutation_p.E478V NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 420 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 TCTCTGGTCCTCTGACCCCTT 0.418000 21 137 0 0 0.002299 0 0 OR5H14 403273 broad.mit.edu 37 3 97868522 97868522 + Missense_Mutation SNP A A T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr3:97868522A>T ENST00000437310.1 + 1 353 c.293A>T c.(292-294)aAg>aTg p.K98M NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TCTGAATGCAAGATACAGTTG 0.383000 27 186 0 0 0.006320 0 0 FEZF1 389549 broad.mit.edu 37 7 121943818 121943818 + Missense_Mutation SNP T T G TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr7:121943818T>G ENST00000442488.2 - 1 741 c.674A>C c.(673-675)cAg>cCg p.Q225P FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.Q175P|FEZF1_ENST00000331178.4_Missense_Mutation_p.Q225P NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 225 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 ATGCTGCAGCTGAGCCTGGGA 0.507000 3 108 0 0 0.004672 0 0 C15orf52 388115 broad.mit.edu 37 15 40630982 40630982 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr15:40630982C>T ENST00000559313.1 - 4 501 c.486G>A c.(484-486)gtG>gtA p.V162V NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 162 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) CAGCCAGCTCCACCAGCTCCC 0.607000 11 50 0 0 0.008291 0 0 PLXNA3 55558 broad.mit.edu 37 X 153696645 153696645 + Splice_Site SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:153696645G>A ENST00000369682.3 + 23 4138 c.e23-1 NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTCCCCACAGACGCCACCCA 0.672000 7 76 0 0 0.001984 0 0 EBF2 64641 broad.mit.edu 37 8 25902267 25902267 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr8:25902267C>T ENST00000520164.1 - 1 646 c.109G>A c.(109-111)Gac>Aac p.D37N NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 37 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) ACATTAGCGTCCACCACTCCG 0.567000 6 104 0 0 0.001984 0 0 NCBP1 4686 broad.mit.edu 37 9 100425264 100425264 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr9:100425264G>A ENST00000375147.3 + 18 1988 c.1732G>A c.(1732-1734)Gaa>Aaa p.E578K NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 578 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) AACCCTAGCTGAAAGTGATGA 0.323000 8 61 0 0 0.006214 0 0 PTCH1 5727 broad.mit.edu 37 9 98209652 98209652 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr9:98209652C>T ENST00000430669.2 - 23 4273 c.3688G>A c.(3688-3690)Gga>Aga p.G1230R PTCH1_ENST00000421141.1_Missense_Mutation_p.G1145R|PTCH1_ENST00000375274.2_Missense_Mutation_p.G1295R|PTCH1_ENST00000331920.6_Missense_Mutation_p.G1296R|PTCH1_ENST00000418258.1_Missense_Mutation_p.G1145R|PTCH1_ENST00000429896.2_Missense_Mutation_p.G1145R|PTCH1_ENST00000437951.1_Missense_Mutation_p.G1230R Q13635 PTC1_HUMAN patched 1 1296 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CCTTGCCGTCCGGGAGGCAGG 0.652000 17 92 0 0 0.004990 0 0 MPV17L 255027 broad.mit.edu 37 16 15501680 15501680 + Splice_Site SNP G G A rs144408494 TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr16:15501680G>A ENST00000287594.6 + 2 454 c.e2-1 MPV17L_ENST00000396385.3_Splice_Site|RP11-1021N1.1_ENST00000568222.1_Intron NM_173803.3 NP_776164.2 Q2QL34 MP17L_HUMAN MPV17 mitochondrial membrane protein-like integral to membrane|peroxisomal membrane kidney(2)|large_intestine(1)|skin(1) 4 CCCAATTCCAGAGTGGACTGA 0.368000 6 37 0 0 0.001984 0 0 DNASE2B 58511 broad.mit.edu 37 1 84864283 84864283 + Silent SNP A A T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:84864283A>T ENST00000370665.3 + 1 69 c.36A>T c.(34-36)acA>acT p.T12T NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 12 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) TGCTAAGAACATCCTTTGCTT 0.463000 10 186 0 0 0.006214 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 6 78 0 0 0.003080 0 0 HMCN1 83872 broad.mit.edu 37 1 186026439 186026439 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:186026439G>A ENST00000271588.4 + 46 7447 c.7218G>A c.(7216-7218)ttG>ttA p.L2406L HMCN1_ENST00000367492.2_Silent_p.L2406L NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2406 Ig-like C2-type 22. 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 CAGTATCTTTGACTTGTGAAG 0.423000 8 58 0 0 0.004482 0 0 PVRL3 25945 broad.mit.edu 37 3 110831075 110831075 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr3:110831075G>A ENST00000485303.1 + 2 634 c.359G>A c.(358-360)aGa>aAa p.R120K PVRL3_ENST00000319792.3_Missense_Mutation_p.R120K|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000493615.1_Missense_Mutation_p.R97K NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 120 Ig-like V-type. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity p.R120T(1)|p.R97T(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 TATCAGGGAAGAGTCTTGTTT 0.373000 7 50 0 0 0.003080 0 0 OR5H15 403274 broad.mit.edu 37 3 97887666 97887666 + Silent SNP G G C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr3:97887666G>C ENST00000356526.2 + 1 123 c.123G>C c.(121-123)ggG>ggC p.G41G NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CCATCATGGGGAATCTTGGTC 0.408000 22 191 0 0 0.004656 0 0 USP9X 8239 broad.mit.edu 37 X 41048594 41048594 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:41048594C>T ENST00000324545.7 + 26 4476 c.3843C>T c.(3841-3843)gaC>gaT p.D1281D USP9X_ENST00000378308.2_Silent_p.D1281D NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1281 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ACTTGGAAGACGAACAGGTTT 0.388000 9 72 0 0 0.008291 0 0 SYNJ2 8871 broad.mit.edu 37 6 158516741 158516741 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:158516741C>T ENST00000355585.4 + 27 3911 c.3836C>T c.(3835-3837)aCa>aTa p.T1279I SYNJ2_ENST00000367122.2_Missense_Mutation_p.T1234I|SYNJ2_ENST00000367112.1_Missense_Mutation_p.T364I NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1279 Pro-rich. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CCTGTCGTGACAGCCCCTCGA 0.567000 10 65 0 0 0.006214 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45970921 45970921 + Missense_Mutation SNP G G C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr21:45970921G>C ENST00000391621.1 - 1 467 c.421C>G c.(421-423)Cgt>Ggt p.R141G TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198693.2 NP_941966.1 P60368 KR102_HUMAN keratin associated protein 10-2 141 22 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(4)|skin(1) 6 ACAGGCACACGGCAGGACTGC 0.617000 26 154 0 0 0.003954 0 0 GALR2 8811 broad.mit.edu 37 17 74071008 74071008 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr17:74071008C>T ENST00000329003.3 + 1 134 c.44C>T c.(43-45)gCg>gTg p.A15V NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 15 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 GCGAGCCAGGCGGGCGGCGGG 0.741000 3 7 0 0 0.004672 0 0 NFASC 23114 broad.mit.edu 37 1 204943329 204943329 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:204943329G>A ENST00000367172.4 + 13 1630 c.1302G>A c.(1300-1302)tcG>tcA p.S434S NFASC_ENST00000338515.6_Silent_p.S434S|NFASC_ENST00000403080.1_Silent_p.S434S|NFASC_ENST00000513543.1_Silent_p.S445S|NFASC_ENST00000539706.1_Silent_p.S445S|NFASC_ENST00000367171.4_Silent_p.S434S|NFASC_ENST00000404076.1_Silent_p.S428S|NFASC_ENST00000338586.6_Silent_p.S434S|NFASC_ENST00000367170.4_Silent_p.S434S|NFASC_ENST00000404907.1_Silent_p.S445S|NFASC_ENST00000367169.4_Silent_p.S434S|NFASC_ENST00000360049.4_Silent_p.S445S|NFASC_ENST00000339876.6_Silent_p.S434S|NFASC_ENST00000401399.1_Silent_p.S434S O94856 NFASC_HUMAN neurofascin 434 Ig-like C2-type 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GGATGCTGTCGCCCCGGAACC 0.552000 4 16 0 0 0.000602 0 0 CCDC40 55036 broad.mit.edu 37 17 78023899 78023899 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr17:78023899G>A ENST00000397545.4 + 7 1003 c.976G>A c.(976-978)Gag>Aag p.E326K CCDC40_ENST00000374876.4_Missense_Mutation_p.E326K|CCDC40_ENST00000269318.5_Missense_Mutation_p.E326K|CCDC40_ENST00000374877.3_Missense_Mutation_p.E326K NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 326 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CCAGCGGCAGGAGCTGGGGGT 0.622000 5 36 0 0 0.000602 0 0 EP300 2033 broad.mit.edu 37 22 41572250 41572250 + Splice_Site SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr22:41572250G>A ENST00000263253.7 + 30 5998 c.e30-1 RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CTGTTTTTCAGGTCTTCTTTG 0.537000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 10 174 0 0 0.006214 0 0 NCOR1 9611 broad.mit.edu 37 17 16005052 16005052 + Silent SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr17:16005052G>A ENST00000268712.3 - 20 2459 c.2202C>T c.(2200-2202)agC>agT p.S734S NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Silent_p.S641S|NCOR1_ENST00000395851.1_Silent_p.S750S NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 734 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GACTGTCCTCGCTGGGCTTGA 0.463000 13 67 0 0 0.001368 0 0 MYO3A 53904 broad.mit.edu 37 10 26417382 26417382 + Missense_Mutation SNP A A C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr10:26417382A>C ENST00000265944.5 + 20 2343 c.2177A>C c.(2176-2178)aAa>aCa p.K726T MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 726 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AATTTCAAAAAAAATTCCTTC 0.338000 6 47 0 0 0.001168 0 0 LRFN1 57622 broad.mit.edu 37 19 39798886 39798886 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr19:39798886C>T ENST00000248668.4 - 2 1702 c.1703G>A c.(1702-1704)cGc>cAc p.R568H NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 568 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane p.R520L(1) central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CTTGACGCGGCGGCTGTCCCC 0.682000 6 34 0 0 0.001168 0 0 NOB1 28987 broad.mit.edu 37 16 69788590 69788590 + Missense_Mutation SNP T T C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr16:69788590T>C ENST00000268802.5 - 2 132 c.103A>G c.(103-105)Act>Gct p.T35A NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 35 PINc. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CGAATCTCAGTGACCACCTCC 0.632000 5 36 0 0 0.000602 0 0 GRM2 2912 broad.mit.edu 37 3 51746802 51746802 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr3:51746802G>A ENST00000395052.3 + 3 998 c.764G>A c.(763-765)cGa>cAa p.R255Q GRM2_ENST00000442933.2_Missense_Mutation_p.R255Q|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 255 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GGTGTGGTGCGAGCCCTGCTG 0.662000 9 53 0 0 0.004482 0 0 STAG2 10735 broad.mit.edu 37 X 123159747 123159747 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:123159747C>T ENST00000371160.1 + 4 392 c.102C>T c.(100-102)aaC>aaT p.N34N STAG2_ENST00000371144.3_Silent_p.N34N|STAG2_ENST00000371145.3_Silent_p.N34N|STAG2_ENST00000218089.9_Silent_p.N34N|STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000371157.3_Silent_p.N34N|STAG2_ENST00000469481.1_Intron Q8N3U4 STAG2_HUMAN stromal antigen 2 34 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 AAGGAAAAAACCAAAAGCAAG 0.323000 7 110 0 0 0.004482 0 0 CHAF1B 8208 broad.mit.edu 37 21 37788639 37788639 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr21:37788639G>A ENST00000314103.4 + 14 1806 c.1655G>A c.(1654-1656)gGa>gAa p.G552E NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 552 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 GAAAACAAAGGAGGCACGGAA 0.567000 4 35 0 0 0.000248 0 0 IGSF9B 22997 broad.mit.edu 37 11 133791272 133791272 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr11:133791272C>T ENST00000321016.8 - 18 2578 c.2348G>A c.(2347-2349)aGc>aAc p.S783N IGSF9B_ENST00000533871.2_Missense_Mutation_p.S783N Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 783 integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCTCTCGGGGCTCACCTTGCC 0.662000 3 15 0 0 0.000248 0 0 DNMT3A 1788 broad.mit.edu 37 2 25468900 25468900 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:25468900C>T ENST00000264709.3 - 12 1800 c.1463G>A c.(1462-1464)cGg>cAg p.R488Q DNMT3A_ENST00000402667.1_Missense_Mutation_p.R265Q|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R299Q|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R488Q NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 488 ADD. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCAATGTTCCGGCACTTCTG 0.602000 """Mis, F, N, S""" AML 10 67 0 0 0.006214 0 0 MPP1 4354 broad.mit.edu 37 X 154019310 154019310 + Missense_Mutation SNP A A C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:154019310A>C ENST00000413259.3 - 5 661 c.269T>G c.(268-270)aTc>aGc p.I90S MPP1_ENST00000369534.3_Missense_Mutation_p.I120S|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Missense_Mutation_p.I120S NM_001166462.1 NP_001159934.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa 120 PDZ. regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGTGCCATTGATTTCTAGGAT 0.423000 7 268 0 0 0.004482 0 0 ZNF292 23036 broad.mit.edu 37 6 87971506 87971506 + Missense_Mutation SNP G G A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:87971506G>A ENST00000369577.3 + 8 8202 c.8159G>A c.(8158-8160)aGa>aAa p.R2720K ZNF292_ENST00000339907.4_Missense_Mutation_p.R2715K NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2720 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GCCACAGGCAGAGGTCAGTAC 0.318000 4 33 0 0 0.000248 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52001378 52001378 + Silent SNP C C A TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr19:52001378C>A ENST00000291707.3 - 5 1354 c.1299G>T c.(1297-1299)ctG>ctT p.L433L SIGLEC12_ENST00000598614.1_Silent_p.L315L NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 433 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GCACTCGAGGCAGCTCCAGCA 0.607000 10 56 1.76689e-08 3.59923e-08 0.006214 1 0 ITGB3BP 23421 broad.mit.edu 37 1 63944501 63944502 + Frame_Shift_Del DEL TT TT - TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr1:63944501_63944502delTT ENST00000371092.3 - 5 364_365 c.304_305delAA c.(304-306)gfs p.K102fs ITGB3BP_ENST00000283568.8_Frame_Shift_Del_p.K63fs|ITGB3BP_ENST00000271002.10_Frame_Shift_Del_p.K63fs NM_001206739.1 NP_001193668.1 Q13352 CENPR_HUMAN integrin beta 3 binding protein (beta3-endonexin) 63 apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm protein C-terminus binding|signal transducer activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 TTTTTTTCTCTTTTCTATATAT 0.228 8 41 --- --- --- --- CASP8 841 broad.mit.edu 37 2 202131442 202131443 + Frame_Shift_Ins INS - - C TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr2:202131442_202131443insC ENST00000358485.4 + 2 606_607 c.410_411insC c.(409-411)tctfs p.S137fs CASP8_ENST00000392266.3_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000264274.9_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000264275.5_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000323492.7_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000432109.2_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000392258.3_Frame_Shift_Ins_p.S78fs|CASP8_ENST00000392259.2_Frame_Shift_Ins_p.S78fs NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 78 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CTGATTACCTACCTAAACACTA 0.475 HNSCC(4;0.00038) 13 52 --- --- --- --- RP11-242J7.1 0 broad.mit.edu 37 4 185536410 185536413 + RNA DEL TTTG TTTG - rs146473442 TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr4:185536410_185536413delTTTG ENST00000522554.1 - 0 292 CAAAGCCGATtttgtttgtttgtt 0.451 3 3 --- --- --- --- HLA-B 3106 broad.mit.edu 37 6 31323342 31323343 + Frame_Shift_Ins INS - - G rs80060802 TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:31323342_31323343insG ENST00000412585.2 - 4 674_675 c.646_647insC c.(646-648)cccfs p.P216fs NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 AGAGATGGGGTGGTGGGTCACG 0.584 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 24 195 --- --- --- --- DST 667 broad.mit.edu 37 6 56494093 56494094 + Frame_Shift_Del DEL TG TG - TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr6:56494093_56494094delTG ENST00000370754.5 - 31 4329_4330 c.4330_4331delCA c.(4330-4332)afs p.Q1444fs DST_ENST00000518935.1_Frame_Shift_Del_p.Q940fs|DST_ENST00000244364.6_Frame_Shift_Del_p.Q940fs|DST_ENST00000361203.3_Frame_Shift_Del_p.Q1266fs|DST_ENST00000370765.6_Frame_Shift_Del_p.Q940fs|DST_ENST00000446842.2_Frame_Shift_Del_p.Q940fs|DST_ENST00000312431.6_Frame_Shift_Del_p.Q1266fs|DST_ENST00000421834.2_Frame_Shift_Del_p.Q1266fs|DST_ENST00000370769.4_Frame_Shift_Del_p.Q1266fs|DST_ENST00000370788.2_Frame_Shift_Del_p.Q1266fs Q03001 DYST_HUMAN dystonin 1266 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTCAACTAATTGATCTGCTTTT 0.356 10 108 --- --- --- --- RNF122 79845 broad.mit.edu 37 8 33408567 33408568 + Frame_Shift_Ins INS - - T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr8:33408567_33408568insT ENST00000256257.1 - 4 665_666 c.264_265insA c.(262-267)ttatggfs p.W89fs NM_024787.2 NP_079063.2 Q9H9V4 RN122_HUMAN ring finger protein 122 89 endoplasmic reticulum|Golgi apparatus|integral to membrane zinc ion binding endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) CTTACCCCATATAATTGTAACT 0.510 49 299 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671273 25671273 + Frame_Shift_Del DEL G G - TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr13:25671273delG ENST00000281589.3 + 1 974 c.937delG c.(937-939)cgfs p.A313fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 313 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TCTCCGGAAAGCGTTTTCTCC 0.408 8 315 --- --- --- --- SERPINA1 5265 broad.mit.edu 37 14 94844884 94844885 + Frame_Shift_Ins INS - - G rs143329723 by1000genomes TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr14:94844884_94844885insG ENST00000448921.1 - 7 1730_1731 c.1158_1159insC c.(1156-1161)ccaggtfs p.G387fs SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 387 RCL. E -> K (in Christchurch). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) AACTTGACCTCGGGGGGGATAG 0.490 12 60 --- --- --- --- CPNE2 221184 broad.mit.edu 37 16 57157367 57157370 + Frame_Shift_Del DEL CTGC CTGC - TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chr16:57157367_57157370delCTGC ENST00000535318.2 + 11 1270_1273 c.909_912delCTGC c.(907-912)ggfs p.GC303fs CPNE2_ENST00000537605.1_Frame_Shift_Del_p.GC201fs|CPNE2_ENST00000565874.1_Frame_Shift_Del_p.GC303fs|CPNE2_ENST00000290776.8_Frame_Shift_Del_p.GC303fs Q96FN4 CPNE2_HUMAN copine II 303 central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) TCCTGGGAGGCTGCCAGCTCATGT 0.593 9 84 --- --- --- --- ATP1B4 23439 broad.mit.edu 37 X 119504589 119504591 + In_Frame_Del DEL CTT CTT - TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd0b1b16-ee20-48e5-be11-70eac9c15630 1ac40883-5a89-4e4a-bd59-25460b3aa7eb g.chrX:119504589_119504591delCTT ENST00000218008.3 + 3 405_407 c.348_350delCTT c.(346-351)tac>ta p.YF116del ATP1B4_ENST00000361319.3_In_Frame_Del_p.YF112del|ATP1B4_ENST00000539306.1_Intron NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 116 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 TACTCATTTACTTCTTCTTCTAT 0.483 41 269 --- --- --- ---