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 PAPPA2 60676 broad.mit.edu 37 1 176668453 176668453 + Silent SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr1:176668453G>A ENST00000367662.3 + 8 4128 c.2964G>A c.(2962-2964)ctG>ctA p.L988L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 988 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGATCTTGCTGGAAAACAAGG 0.552000 14 74 0 0 0.000422831 0 0 TGM3 7053 broad.mit.edu 37 20 2290305 2290305 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr20:2290305C>T ENST00000381458.5 + 2 73 c.10C>T c.(10-12)Cta>Tta p.L4L NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 4 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) CCTCACAGCTCTAGGAGTCCA 0.547000 5 76 0 0 3.59834e-05 0 0 FAM47C 442444 broad.mit.edu 37 X 37027834 37027834 + Missense_Mutation SNP C C T rs61730908 byFrequency TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chrX:37027834C>T ENST00000358047.3 + 1 1403 c.1351C>T c.(1351-1353)Cgc>Tgc p.R451C NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 451 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GTCCCATCTCCGCCCAGAGCC 0.622000 11 19 0 0 0.000673444 0 0 SYN1 6853 broad.mit.edu 37 X 47436013 47436013 + Missense_Mutation SNP G G T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chrX:47436013G>T ENST00000295987.7 - 7 988 c.864C>A c.(862-864)ttC>ttA p.F288L SYN1_ENST00000340666.4_Missense_Mutation_p.F288L NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 288 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 CGATGTCCTGGAAGTCATGCT 0.587000 7 23 8.12818e-05 0.00101863 8.12818e-05 1 0 DNAH2 146754 broad.mit.edu 37 17 7646342 7646342 + Nonsense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr17:7646342C>T ENST00000572933.1 + 12 3246 c.1786C>T c.(1786-1788)Cga>Tga p.R596* DNAH2_ENST00000389173.2_Nonsense_Mutation_p.R596*|DNAH2_ENST00000082259.3_Nonsense_Mutation_p.R678*|DNAH2_ENST00000570791.1_Nonsense_Mutation_p.R678* Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 596 Stem (By similarity). 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) TGAGCTGGTTCGAAAAACCTT 0.537000 6 67 0 0 8.12818e-05 0 0 HSPG2 3339 broad.mit.edu 37 1 22157780 22157780 + Silent SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr1:22157780G>A ENST00000374695.3 - 84 11569 c.11490C>T c.(11488-11490)atC>atT p.I3830I NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3830 Laminin G-like 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CATGGAAGACGATCTCCTCGC 0.677000 14 106 0 0 0.000219431 0 0 OR1I1 126370 broad.mit.edu 37 19 15198338 15198338 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr19:15198338C>T ENST00000209540.2 + 1 548 c.462C>T c.(460-462)ctC>ctT p.L154L NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 TCACCAACCTCCAGTCTCTCA 0.562000 5 33 0 0 3.59834e-05 0 0 NPS 594857 broad.mit.edu 37 10 129347758 129347758 + Missense_Mutation SNP T T C TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr10:129347758T>C ENST00000398023.1 + 2 34 c.14T>C c.(13-15)gTa>gCa p.V5A NM_001030013.1 NP_001025184.1 P0C0P6 NPS_HUMAN neuropeptide S 5 neuropeptide signaling pathway extracellular region haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 TGCAGCTCAGTAAAACTCAAT 0.373000 7 45 0 0 0.000274275 0 0 THOC2 57187 broad.mit.edu 37 X 122801095 122801095 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chrX:122801095G>A ENST00000245838.8 - 11 1083 c.1052C>T c.(1051-1053)gCc>gTc p.A351V THOC2_ENST00000491737.1_Missense_Mutation_p.A236V|THOC2_ENST00000355725.4_Missense_Mutation_p.A351V NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 351 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 CTTTAATAAGGCTTCCAACAA 0.378000 11 17 0 0 0.00010058 0 0 MEFV 4210 broad.mit.edu 37 16 3304362 3304362 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr16:3304362C>T ENST00000219596.1 - 2 745 c.706G>A c.(706-708)Gga>Aga p.G236R MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 236 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding p.G236R(1) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CGCATCTTTCCCGAGGGCAGG 0.627000 14 166 0 0 0.000308642 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228829 57228829 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr8:57228829C>T ENST00000396721.2 - 2 208 c.78G>A c.(76-78)atG>atA p.M26I SDR16C5_ENST00000303749.3_Missense_Mutation_p.M26I|SDR16C5_ENST00000522671.1_Missense_Mutation_p.M26I Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 26 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 AGGCAAAAATCATAGCCTCCA 0.448000 5 47 0 0 0.000602214 0 0 CISD2 493856 broad.mit.edu 37 4 103806372 103806372 + Splice_Site SNP G G C TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr4:103806372G>C ENST00000273986.4 + 2 210 c.e2-1 CISD2_ENST00000503643.1_Splice_Site|SLC9B1_ENST00000394789.3_3'UTR NM_001008388.4 NP_001008389.1 Q8N5K1 CISD2_HUMAN CDGSH iron sulfur domain 2 multicellular organismal aging|regulation of autophagy endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|protein complex 2 iron, 2 sulfur cluster binding|metal ion binding|protein homodimerization activity endometrium(1)|lung(3) 4 OV - Ovarian serous cystadenocarcinoma(123;1.97e-08) TACATGTTTAGTTTCAGAATG 0.403000 14 130 0 0 0.000219431 0 0 AEBP1 165 broad.mit.edu 37 7 44146195 44146195 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr7:44146195G>A ENST00000223357.3 + 2 609 c.304G>A c.(304-306)Ggc>Agc p.G102S NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 102 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 GAAAGACAAAGGCCCCAAGGT 0.577000 10 31 0 0 0.00010058 0 0 RARG 5916 broad.mit.edu 37 12 53621300 53621300 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr12:53621300C>T ENST00000425354.2 - 3 517 c.30G>A c.(28-30)gcG>gcA p.A10A RARG_ENST00000394426.1_Silent_p.A10A|RARG_ENST00000327550.3_Intron|RARG_ENST00000543762.1_Intron NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 10 Modulating. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GGGCACCAGCCGCAAAGAGTC 0.672000 5 20 0 0 0.000602214 0 0 PLEC 5339 broad.mit.edu 37 8 145024808 145024808 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr8:145024808C>T ENST00000322810.4 - 1 236 c.67G>A c.(67-69)Ggc>Agc p.G23S PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 23 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACCATCACGCCCTCGCGGAAG 0.692000 5 30 0 0 3.59834e-05 0 0 ZMYM2 7750 broad.mit.edu 37 13 20567307 20567307 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr13:20567307G>A ENST00000382869.3 + 3 346 c.95G>A c.(94-96)gGa>gAa p.G32E ZMYM2_ENST00000382871.2_Missense_Mutation_p.G32E|ZMYM2_ENST00000382881.3_Missense_Mutation_p.G32E|ZMYM2_ENST00000382874.2_Missense_Mutation_p.G32E NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding p.G32E(1)|p.G32R(1) large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) ACGAATGTAGGAAACTCATTT 0.408000 8 60 0 0 0.000157383 0 0 DENND3 22898 broad.mit.edu 37 8 142178404 142178404 + Silent SNP C C T rs139726064 TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr8:142178404C>T ENST00000519811.1 + 13 2125 c.2055C>T c.(2053-2055)gcC>gcT p.A685A DENND3_ENST00000262585.2_Silent_p.A605A|DENND3_ENST00000424248.1_Silent_p.A553A A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 605 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CCATGTCTGCCCCTGAGTGGG 0.572000 10 100 0 0 0.000673444 0 0 PVALB 5816 broad.mit.edu 37 22 37211241 37211241 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr22:37211241C>T ENST00000216200.5 - 3 155 c.100G>A c.(100-102)Gtc>Atc p.V34I PVALB_ENST00000404171.1_Missense_Mutation_p.V2I|PVALB_ENST00000417718.2_Missense_Mutation_p.V34I NM_002854.2 NP_002845.1 P20472 PRVA_HUMAN parvalbumin 34 calcium ion binding large_intestine(1)|lung(1)|skin(1) 3 TTCAGGCCGACCATTTGGAAG 0.517000 9 52 0 0 0.000442599 0 0 PAQR8 85315 broad.mit.edu 37 6 52268563 52268563 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr6:52268563C>T ENST00000442253.2 + 2 726 c.552C>T c.(550-552)gcC>gcT p.A184A PAQR8_ENST00000360726.3_Silent_p.A184A NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 184 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) CAGCAGCTGCCTTCTGTGGCT 0.507000 45 100 0 0 0.000437636 0 0 CCKBR 887 broad.mit.edu 37 11 6292680 6292680 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr11:6292680C>T ENST00000525462.1 + 4 1461 c.1458C>T c.(1456-1458)ccC>ccT p.P486P CCKBR_ENST00000334619.2_Silent_p.P417P|CCKBR_ENST00000532715.1_Silent_p.P333P P32239 GASR_HUMAN cholecystokinin B receptor 417 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GAGCTCGCCCCAGGGCTCTTC 0.642000 9 58 0 0 0.000274275 0 0 HDAC11 79885 broad.mit.edu 37 3 13522850 13522850 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr3:13522850C>T ENST00000295757.3 + 2 290 c.107C>T c.(106-108)cCc>cTc p.P36L HDAC11_ENST00000404040.1_Missense_Mutation_p.P36L|HDAC11_ENST00000402259.1_Missense_Mutation_p.P36L|HDAC11_ENST00000402271.1_Missense_Mutation_p.P36L|HDAC11_ENST00000437379.2_Missense_Mutation_p.P8L|HDAC11_ENST00000433119.1_Missense_Mutation_p.P8L|HDAC11_ENST00000404548.1_Missense_Mutation_p.P36L|HDAC11_ENST00000522202.1_Missense_Mutation_p.P8L|HDAC11_ENST00000446613.2_5'UTR|HDAC11_ENST00000405025.1_Missense_Mutation_p.P8L NM_024827.3 NP_079103.2 Q96DB2 HDA11_HUMAN histone deacetylase 11 36 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 AAGCTGCATCCCTTTGATGCC 0.542000 8 78 0 0 0.000442599 0 0 HLTF 6596 broad.mit.edu 37 3 148778438 148778438 + Missense_Mutation SNP C C A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr3:148778438C>A ENST00000310053.5 - 12 1470 c.1277G>T c.(1276-1278)aGg>aTg p.R426M HLTF_ENST00000392912.2_Missense_Mutation_p.R426M|HLTF_ENST00000465259.1_Missense_Mutation_p.R426M|HLTF_ENST00000494055.1_Missense_Mutation_p.R426M NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 426 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) ACCTTTCGCCCTGCCTTTAGT 0.323000 7 170 0.000157383 0.00195441 0.000157383 1 0 CRYBA4 1413 broad.mit.edu 37 22 27024386 27024386 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr22:27024386C>T ENST00000354760.3 + 5 470 c.435C>T c.(433-435)caC>caT p.H145H CRYBA4_ENST00000466315.1_3'UTR NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 145 Beta/gamma crystallin 'Greek key' 3. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 TCCACGTCCACTCTGGGGCGT 0.552000 7 51 0 0 0.000274275 0 0 CIT 11113 broad.mit.edu 37 12 120241141 120241141 + Silent SNP A A G TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr12:120241141A>G ENST00000392521.2 - 10 1219 c.1164T>C c.(1162-1164)ttT>ttC p.F388F CIT_ENST00000261833.7_Silent_p.F388F NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 388 AGC-kinase C-terminal. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTGGTTCATCAAAATTGGAGG 0.502000 12 117 0 0 0.000219431 0 0 TCP10L2 401285 broad.mit.edu 37 6 167592605 167592605 + Missense_Mutation SNP T T G TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr6:167592605T>G ENST00000366832.2 + 6 895 c.764T>G c.(763-765)gTt>gGt p.V255G NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 255 endometrium(1)|kidney(2)|lung(3) 6 GCAGCCGGAGTTGCTGGTGAG 0.582000 3 17 0 0 6.4e-05 0 0 DNAH6 1768 broad.mit.edu 37 2 84811252 84811252 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr2:84811252C>T ENST00000389394.3 + 15 2496 c.2359C>T c.(2359-2361)Cgg>Tgg p.R787W DNAH6_ENST00000398278.2_Missense_Mutation_p.R787W|DNAH6_ENST00000237449.6_Missense_Mutation_p.R787W NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 787 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 TGTTGCTGTTCGGAATGCCAT 0.393000 5 52 0 0 3.59834e-05 0 0 IGLV1-47 28822 broad.mit.edu 37 22 22712439 22712439 + RNA SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr22:22712439G>A ENST00000390294.2 + 0 238 CAGCTCCCAGGAACGGCCCCC 0.572000 13 74 0 0 0.000219431 0 0 WDR72 256764 broad.mit.edu 37 15 53998206 53998206 + Silent SNP A A T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr15:53998206A>T ENST00000396328.1 - 10 1259 c.1020T>A c.(1018-1020)ctT>ctA p.L340L WDR72_ENST00000360509.5_Silent_p.L340L|WDR72_ENST00000557913.1_Silent_p.L337L|WDR72_ENST00000559418.1_Silent_p.L350L NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 340 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) CTCCAGAGAAAAGTACCTTGT 0.393000 7 26 0 0 0.000157383 0 0 OR1A2 26189 broad.mit.edu 37 17 3101267 3101267 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr17:3101267G>A ENST00000381951.1 + 1 455 c.455G>A c.(454-456)gGa>gAa p.G152E NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 TGGGTGATTGGAAACACCAGT 0.493000 4 27 0 0 0.00024832 0 0 GCC1 79571 broad.mit.edu 37 7 127223349 127223349 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr7:127223349C>T ENST00000321407.2 - 2 1471 c.1047G>A c.(1045-1047)gaG>gaA p.E349E GCC1_ENST00000497650.1_5'UTR NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 349 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGAGTTGATCCTCTGCAAGAG 0.507000 33 97 0 0 0.000491102 0 0 EDN1 1906 broad.mit.edu 37 6 12294286 12294286 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr6:12294286G>A ENST00000379375.5 + 3 613 c.346G>A c.(346-348)Gac>Aac p.D116N NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 116 Endothelin-like. artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) TAGCCAAAAAGACAAGAAGTG 0.448000 17 46 0 0 0.000566183 0 0 PER2 8864 broad.mit.edu 37 2 239184504 239184504 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr2:239184504C>T ENST00000254657.3 - 4 607 c.328G>A c.(328-330)Gaa>Aaa p.E110K PER2_ENST00000440245.1_Missense_Mutation_p.E110K|PER2_ENST00000254658.3_Missense_Mutation_p.E110K|PER2_ENST00000355768.2_Missense_Mutation_p.E110K NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 110 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TTTATCAGTTCTTTGTGTGTG 0.507000 9 100 0 0 0.000274275 0 0 SLAMF6 114836 broad.mit.edu 37 1 160460019 160460019 + Silent SNP T T A rs34289021 TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr1:160460019T>A ENST00000368059.3 - 5 834 c.765A>T c.(763-765)ctA>ctT p.L255L SLAMF6_ENST00000368055.1_Silent_p.L144L|SLAMF6_ENST00000368057.3_Silent_p.L255L NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 255 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) TAGACAAAGATAGGGAATCTG 0.493000 5 34 0 0 0.000602214 0 0 UBE3C 9690 broad.mit.edu 37 7 156979615 156979615 + Silent SNP C C T rs143608582 TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr7:156979615C>T ENST00000348165.5 + 10 1591 c.1231C>T c.(1231-1233)Ctg>Ttg p.L411L UBE3C_ENST00000389103.4_Silent_p.L368L NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 411 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) CCTGCTCAACCTGGTGTGGAG 0.547000 5 25 0 0 0.000602214 0 0 TRAV8-4 28682 broad.mit.edu 37 14 22363023 22363023 + RNA SNP C C A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr14:22363023C>A ENST00000390438.2 + 0 282 TCCACCATATCTCTTCTGGTA 0.542000 OREG0022572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 31 3.09899e-07 3.91964e-06 0.000274275 1 0 IFNA21 3452 broad.mit.edu 37 9 21166363 21166363 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr9:21166363C>T ENST00000380225.1 - 1 296 c.249G>A c.(247-249)atG>atA p.M83I NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 83 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TCTGCTGGATCATCTCATGGA 0.488000 6 40 0 0 3.59834e-05 0 0 FAM117B 150864 broad.mit.edu 37 2 203622021 203622021 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr2:203622021C>T ENST00000303116.6 + 6 1200 c.458C>T c.(457-459)cCt>cTt p.P153L FAM117B_ENST00000392238.2_Missense_Mutation_p.P397L NM_173511.3 NP_775782.2 Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 397 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 ACACAGACGCCTGGTGGGGCA 0.552000 10 168 0 0 0.000673444 0 0 UNC5B 219699 broad.mit.edu 37 10 73057761 73057761 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr10:73057761C>T ENST00000335350.6 + 16 3002 c.2586C>T c.(2584-2586)atC>atT p.I862I UNC5B_ENST00000373192.4_Silent_p.I851I NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 862 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CACTGTCCATCCGCCAGAAGA 0.572000 5 49 0 0 0.000602214 0 0 SPOCD1 90853 broad.mit.edu 37 1 32280764 32280764 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr1:32280764C>T ENST00000360482.2 - 2 300 c.171G>A c.(169-171)agG>agA p.R57R SPOCD1_ENST00000533231.1_Silent_p.R57R|SPOCD1_ENST00000373648.2_Silent_p.R57R|SPOCD1_ENST00000257100.3_Intron NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 57 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TGGGGATCTTCCTTCTGCTGC 0.637000 4 33 0 0 0.00024832 0 0 CYP1A1 1543 broad.mit.edu 37 15 75012958 75012958 + Silent SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr15:75012958G>A ENST00000379727.3 - 7 1609 c.1411C>T c.(1411-1413)Ctg>Ttg p.L471L CYP1A1_ENST00000395048.2_Silent_p.L471L|CYP1A1_ENST00000395049.4_Silent_p.L442L|CYP1A1_ENST00000567032.1_Silent_p.L471L P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 471 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) AGGATAGCCAGGAAGAGAAAG 0.537000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 11 97 0 0 0.000673444 0 0 PET112 5188 broad.mit.edu 37 4 152679989 152679989 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr4:152679989G>A ENST00000263985.6 - 2 302 c.262C>T c.(262-264)Cgc>Tgc p.R88C PET112_ENST00000512306.1_Missense_Mutation_p.R88C|PET112_ENST00000515812.1_Missense_Mutation_p.R88C|PET112_ENST00000508611.1_Missense_Mutation_p.R88C NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 88 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCTGAAAAGCGAACTTGAGAT 0.383000 7 92 0 0 0.000274275 0 0 MDN1 23195 broad.mit.edu 37 6 90365646 90365646 + Silent SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr6:90365646G>A ENST00000369393.3 - 92 15442 c.15327C>T c.(15325-15327)tcC>tcT p.S5109S MDN1_ENST00000428876.1_Silent_p.S5109S Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 5109 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GATCACCCATGGAACGTTCAT 0.532000 4 21 0 0 3.59834e-05 0 0 HTR7 3363 broad.mit.edu 37 10 92503376 92503376 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr10:92503376G>A ENST00000336152.3 - 3 1393 c.1367C>T c.(1366-1368)tCt>tTt p.S456F HTR7_ENST00000371719.2_Intron|HTR7_ENST00000277874.6_Intron|HTR7_ENST00000371721.3_Intron NM_019859.3 NP_062873.1 P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 456 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) ATGGTCTGGAGATTGTAGCAC 0.488000 4 23 0 0 0.000602214 0 0 NPY4R 5540 broad.mit.edu 37 10 47087366 47087366 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr10:47087366C>T ENST00000374312.1 + 3 1002 c.583C>T c.(583-585)Ctg>Ttg p.L195L NPY4R_ENST00000395716.1_Silent_p.L195L NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 TCTGGAGTTCCTGGCGGATAA 0.587000 5 136 0 0 3.59834e-05 0 0 SQRDL 58472 broad.mit.edu 37 15 45965882 45965882 + Nonsense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr15:45965882G>A ENST00000260324.7 + 5 923 c.537G>A c.(535-537)tgG>tgA p.W179* SQRDL_ENST00000568606.1_Nonsense_Mutation_p.W179*|RP11-96O20.4_ENST00000564080.1_Nonsense_Mutation_p.W179* NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 179 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) AGAAGACATGGAAAGCTCTGC 0.433000 10 85 0 0 0.000673444 0 0 CLRN2 645104 broad.mit.edu 37 4 17528679 17528679 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr4:17528679G>A ENST00000511148.2 + 3 775 c.673G>A c.(673-675)Gtc>Atc p.V225I NM_001079827.2 NP_001073296.1 A0PK11 CLRN2_HUMAN clarin 2 225 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 AGAGGCCACGGTCACAGCTGA 0.512000 6 69 0 0 3.59834e-05 0 0 DNAH17 8632 broad.mit.edu 37 17 76440827 76440827 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr17:76440827G>A ENST00000389840.5 - 71 11469 c.11345C>T c.(11344-11346)tCt>tTt p.S3782F DNAH17_ENST00000585328.1_Missense_Mutation_p.S3791F|DNAH17_ENST00000586052.1_5'UTR 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) GCGCTTGGCAGATCCTTCGAT 0.577000 5 59 0 0 0.000602214 0 0 CARD11 84433 broad.mit.edu 37 7 2959008 2959008 + Silent SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr7:2959008G>A ENST00000396946.4 - 18 2911 c.2508C>T c.(2506-2508)agC>agT p.S836S NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 836 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GGCCTCACCGGCTGTAGCTGG 0.607000 Mis DLBCL 8 73 0 0 0.000978159 0 0 SLC4A1 6521 broad.mit.edu 37 17 42330593 42330593 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr17:42330593G>A ENST00000262418.6 - 17 2359 c.2204C>T c.(2203-2205)gCc>gTc p.A735V NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 735 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GAGGGCGTTGGCATGGGTGAC 0.642000 6 43 0 0 3.59834e-05 0 0 MEGF8 1954 broad.mit.edu 37 19 42861644 42861644 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr19:42861644C>T ENST00000334370.4 + 27 5353 c.4718C>T c.(4717-4719)tCc>tTc p.S1573F MEGF8_ENST00000251268.6_Missense_Mutation_p.S1640F NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1640 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GGCGGTTACTCCCCGGAAAAT 0.662000 7 53 0 0 8.12818e-05 0 0 SLC2A12 154091 broad.mit.edu 37 6 134349981 134349981 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr6:134349981C>T ENST00000275230.5 - 2 1137 c.982G>A c.(982-984)Gtc>Atc p.V328I NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 328 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) GTGCTAATGACCTTGACGACT 0.488000 5 26 0 0 0.000602214 0 0 TSKS 60385 broad.mit.edu 37 19 50251672 50251672 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr19:50251672C>T ENST00000246801.3 - 3 536 c.454G>A c.(454-456)Gaa>Aaa p.E152K NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 152 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) TTGGTCTTTTCCTTCAAGCTG 0.562000 8 84 0 0 0.000673444 0 0 UPB1 51733 broad.mit.edu 37 22 24896102 24896102 + Silent SNP C C T rs9620392 TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr22:24896102C>T ENST00000326010.5 + 2 476 c.132C>T c.(130-132)ttC>ttT p.F44F UPB1_ENST00000382760.2_Silent_p.F44F|UPB1_ENST00000413389.2_Intron NM_016327.2 NP_057411.1 Q9UBR1 BUP1_HUMAN ureidopropionase, beta 44 pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) GGGAAGCTTTCGAAGCTGCCT 0.527000 6 90 0 0 0.000157383 0 0 SETD2 29072 broad.mit.edu 37 3 47144868 47144868 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr3:47144868G>A ENST00000409792.3 - 7 4927 c.4885C>T c.(4885-4887)Cac>Tac p.H1629Y NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1629 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.H1629Y(2)|p.H1126Y(2) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCACAGCTGTGATTCATGAAA 0.333000 """N, F, S, Mis""" clear cell renal carcinoma 7 47 0 0 0.000673444 0 0 AAR2 25980 broad.mit.edu 37 20 34832830 34832830 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr20:34832830C>T ENST00000373932.3 + 3 1315 c.969C>T c.(967-969)ttC>ttT p.F323F AAR2_ENST00000397286.3_Silent_p.F323F|AAR2_ENST00000320849.4_Silent_p.F323F NM_015511.3 NP_056326.2 AAR2 splicing factor homolog (S. cerevisiae) AAGACAACTTCCTCACCAGCA 0.488000 10 26 0 0 0.000673444 0 0 TYW3 127253 broad.mit.edu 37 1 75198982 75198982 + Silent SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr1:75198982G>A ENST00000370867.3 + 1 143 c.54G>A c.(52-54)gcG>gcA p.A18A TYW3_ENST00000421739.2_Silent_p.A18A|TYW3_ENST00000457880.2_Silent_p.A18A|TYW3_ENST00000479111.1_3'UTR|CRYZ_ENST00000417775.1_5'UTR NM_138467.2 NP_612476.1 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) 18 tRNA processing methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1) 15 TGAGCAAAGCGGACCTCAGCC 0.577000 4 26 0 0 0.00024832 0 0 ITIH2 3698 broad.mit.edu 37 10 7763636 7763636 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr10:7763636G>A ENST00000358415.4 + 8 929 c.763G>A c.(763-765)Gta>Ata p.V255I ITIH2_ENST00000379587.4_Missense_Mutation_p.V244I NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 255 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CAAGCCCACGGTAGCACAGCA 0.567000 11 89 0 0 0.000978159 0 0 LRIT2 340745 broad.mit.edu 37 10 85981770 85981770 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr10:85981770G>A ENST00000372113.4 - 3 1564 c.1559C>T c.(1558-1560)tCc>tTc p.S520F LRIT2_ENST00000538192.1_Missense_Mutation_p.S530F NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 520 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 TTCTCTAAAGGAGCCATCCTT 0.597000 11 103 0 0 0.000978159 0 0 KDM2B 84678 broad.mit.edu 37 12 121970717 121970717 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr12:121970717G>A ENST00000377069.4 - 8 1238 c.832C>T c.(832-834)Cct>Tct p.P278S KDM2B_ENST00000543852.1_Missense_Mutation_p.P78S|KDM2B_ENST00000536437.1_Missense_Mutation_p.P192S|KDM2B_ENST00000377071.4_Missense_Mutation_p.P309S|KDM2B_ENST00000538046.2_Intron NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 309 JmjC. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CTACCGGAAGGGATGAAAAAT 0.582000 13 64 0 0 0.000151284 0 0 LPCAT1 79888 broad.mit.edu 37 5 1477559 1477559 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr5:1477559G>A ENST00000283415.3 - 9 991 c.859C>T c.(859-861)Ccc>Tcc p.P287S NM_024830.3 NP_079106.3 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 287 phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) TACAGCGCGGGGTTCCTCTTC 0.582000 8 61 0 0 0.000673444 0 0 LGI2 55203 broad.mit.edu 37 4 25005685 25005685 + Silent SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr4:25005685G>A ENST00000382114.4 - 8 1211 c.1026C>T c.(1024-1026)atC>atT p.I342I NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 342 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) AGCTGTCTGCGATGACAAAGA 0.468000 10 35 0 0 0.000673444 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159776698 159776698 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr5:159776698C>T ENST00000393975.3 - 3 473 c.470G>A c.(469-471)gGg>gAg p.G157E NM_031908.4 NP_114114.2 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 112 C1q. collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCGTTGACCCCCTTGGGGCC 0.687000 16 93 0 0 0.000422831 0 0 EP400 57634 broad.mit.edu 37 12 132547144 132547144 + Silent SNP G G A rs66689119 TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr12:132547144G>A ENST00000333577.4 + 48 8449 c.8340G>A c.(8338-8340)caG>caA p.Q2780Q EP400_ENST00000389561.2_Silent_p.Q2744Q|EP400_ENST00000330386.6_Silent_p.Q2663Q|EP400_ENST00000332482.4_Silent_p.Q2707Q|EP400_ENST00000389562.2_Silent_p.Q2743Q Q96L91 EP400_HUMAN E1A binding protein p400 2780 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcaacagcagcagcagcaac 0.607000 8 42 0 0 0.000274275 0 0 SCAND3 114821 broad.mit.edu 37 6 28543374 28543374 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr6:28543374C>T ENST00000452236.2 - 3 1725 c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 370 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 GAACTAACTTCCTTAATTGAT 0.343000 6 59 0 0 3.59834e-05 0 0 ZNF217 7764 broad.mit.edu 37 20 52198559 52198559 + Silent SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr20:52198559G>A ENST00000371471.2 - 2 1232 c.807C>T c.(805-807)ttC>ttT p.F269F ZNF217_ENST00000302342.3_Silent_p.F269F O75362 ZN217_HUMAN zinc finger protein 217 269 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GTCTCAAGTTGAACAACTGCA 0.547000 21 136 0 0 0.000175454 0 0 MCM10 55388 broad.mit.edu 37 10 13228249 13228249 + Missense_Mutation SNP A A T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr10:13228249A>T ENST00000378694.1 + 8 1259 c.1184A>T c.(1183-1185)aAt>aTt p.N395I MCM10_ENST00000378714.3_Missense_Mutation_p.N395I|MCM10_ENST00000484800.2_Missense_Mutation_p.N396I Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 396 Zinc finger-like. cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AAGAAGAAGAATGGAGAGCCG 0.428000 5 39 0 0 0.000602214 0 0 TNR 7143 broad.mit.edu 37 1 175332878 175332878 + Silent SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr1:175332878G>A ENST00000367674.1 - 13 3381 c.2673C>T c.(2671-2673)ttC>ttT p.F891F TNR_ENST00000263525.2_Silent_p.F891F NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 891 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGTAGTAATCGAAAGATGCAA 0.438000 8 52 0 0 0.000978159 0 0 FLG 2312 broad.mit.edu 37 1 152287815 152287815 + Missense_Mutation SNP C C T rs147859388 by1000genomes TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr1:152287815C>T ENST00000368799.1 - 2 153 c.118G>A c.(118-120)Gaa>Aaa p.E40K FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 40 EF-hand 1. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCCGAAATTCCTTTTCCAGA 0.328000 Ichthyosis 4 36 0 0 0.00024832 0 0 WBSCR17 64409 broad.mit.edu 37 7 70885994 70885994 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr7:70885994G>A ENST00000333538.5 + 5 1499 c.865G>A c.(865-867)Gag>Aag p.E289K WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 289 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.E289K(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GCAGCGGTACGAGAACTCGGC 0.587000 18 79 0 0 0.000566183 0 0 RPS3 6188 broad.mit.edu 37 11 75115750 75115750 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr11:75115750C>T ENST00000531188.1 + 6 635 c.573C>T c.(571-573)ccC>ccT p.P191P RPS3_ENST00000524851.1_Silent_p.P191P|RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000527446.1_Silent_p.P191P|RPS3_ENST00000526608.1_Silent_p.P179P|RPS3_ENST00000278572.6_Silent_p.P207P|RPS3_ENST00000534440.1_Silent_p.P106P NM_001005.4|NM_001260506.1|NM_001260507.1 NP_000996.2|NP_001247435.1|NP_001247436.1 P23396 RS3_HUMAN ribosomal protein S3 191 activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus|ruffle membrane damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 TCATGCTGCCCTGGGACCCAA 0.552000 7 58 0 0 0.000157383 0 0 FBLN7 129804 broad.mit.edu 37 2 112942830 112942830 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr2:112942830C>T ENST00000331203.2 + 7 1132 c.861C>T c.(859-861)tgC>tgT p.C287C FBLN7_ENST00000409450.3_Silent_p.C241C|FBLN7_ENST00000409667.3_Silent_p.C153C|FBLN7_ENST00000409903.1_Silent_p.C287C NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 287 EGF-like 3; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GGACCACATGCATCAACACCG 0.577000 7 74 0 0 0.000157383 0 0 NFKBIB 4793 broad.mit.edu 37 19 39396105 39396105 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr19:39396105C>T ENST00000392079.3 + 3 551 c.453C>T c.(451-453)tcC>tcT p.S151S NFKBIB_ENST00000572515.1_Silent_p.S183S|NFKBIB_ENST00000313582.5_Silent_p.S183S Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 183 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) ACCCCGATTCCGACTTGGAGA 0.632000 6 58 0 0 0.000157383 0 0 THRA 7067 broad.mit.edu 37 17 38233777 38233777 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr17:38233777C>T ENST00000450525.2 + 4 629 c.138C>T c.(136-138)taC>taT p.Y46Y THRA_ENST00000264637.4_Silent_p.Y46Y|THRA_ENST00000584985.1_Silent_p.Y46Y|THRA_ENST00000546243.1_Silent_p.Y46Y|THRA_ENST00000394121.4_Silent_p.Y46Y NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 46 Modulating. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) TCCCTAGTTACCTGGACAAAG 0.537000 10 98 0 0 0.000673444 0 0 TIFAB 497189 broad.mit.edu 37 5 134785454 134785454 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr5:134785454G>A ENST00000537858.1 - 2 376 c.176C>T c.(175-177)tCc>tTc p.S59F NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 59 FHA. breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGGCTCCAGGGACAGGTGACG 0.672000 5 48 0 0 0.000602214 0 0 FGR 2268 broad.mit.edu 37 1 27942078 27942078 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr1:27942078C>T ENST00000374005.3 - 9 1173 c.885G>A c.(883-885)ccG>ccA p.P295P FGR_ENST00000545953.1_Silent_p.P229P|FGR_ENST00000374004.1_Silent_p.P295P|FGR_ENST00000399173.1_Silent_p.P295P NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 295 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ACATGGTGCCCGGCTTCAGCG 0.667000 6 32 0 0 8.12818e-05 0 0 KIAA1199 57214 broad.mit.edu 37 15 81173339 81173339 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr15:81173339C>T ENST00000394685.3 + 6 898 c.479C>T c.(478-480)tCc>tTc p.S160F KIAA1199_ENST00000356249.5_Missense_Mutation_p.S160F|KIAA1199_ENST00000220244.3_Missense_Mutation_p.S160F Q8WUJ3 K1199_HUMAN KIAA1199 160 G8. breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 AAAAAGCTCTCCTGGACATTT 0.493000 23 80 0 0 0.000295444 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308742 140308742 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr5:140308742C>T ENST00000253807.2 + 1 2265 c.2265C>T c.(2263-2265)ctC>ctT p.L755L PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Silent_p.L755L|PCDHA4_ENST00000530339.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACTTATCTCTATCGGGCCT 0.478000 10 88 0 0 0.000978159 0 0 MICALL2 79778 broad.mit.edu 37 7 1474304 1474304 + Silent SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr7:1474304G>A ENST00000297508.7 - 17 2818 c.2643C>T c.(2641-2643)ctC>ctT p.L881L MICALL2_ENST00000405088.4_Silent_p.L669L|MICALL2_ENST00000471899.1_5'UTR NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 881 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) TCTTCCTCTGGAGGCCTAGGG 0.617000 12 72 0 0 0.000151284 0 0 KCNMB4 27345 broad.mit.edu 37 12 70760843 70760843 + Missense_Mutation SNP A A G TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr12:70760843A>G ENST00000258111.4 + 1 788 c.329A>G c.(328-330)aAc>aGc p.N110S NM_014505.5 NP_055320.4 Q86W47 KCMB4_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 4 110 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding kidney(1)|large_intestine(4)|lung(5) 10 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) CTCCTGACCAACCCCAAGGTA 0.662000 7 44 0 0 8.12818e-05 0 0 DAGLA 747 broad.mit.edu 37 11 61511262 61511262 + Missense_Mutation SNP C C A rs150806850 TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr11:61511262C>A ENST00000257215.5 + 20 2546 c.2430C>A c.(2428-2430)caC>caA p.H810Q NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 810 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CCAGCCTCCACGCTGTGCTGG 0.652000 14 146 4.93089e-13 6.29495e-12 0.000219431 1 0 ATP2C2 9914 broad.mit.edu 37 16 84456296 84456296 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr16:84456296C>T ENST00000416219.2 + 9 925 c.836C>T c.(835-837)gCt>gTt p.A279V ATP2C2_ENST00000262429.4_Missense_Mutation_p.A279V|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 279 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 ATGATGCAGGCTGAAGAGGTA 0.478000 18 153 0 0 0.000958276 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24524178 24524178 + Missense_Mutation SNP G G A rs146672556 byFrequency TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr20:24524178G>A ENST00000376862.3 + 2 1078 c.445G>A c.(445-447)Gat>Aat p.D149N NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 149 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 CCTGTCCTACGATGTGGAGGA 0.547000 8 128 0 0 0.000274275 0 0 LOC645752 645752 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 5 223 0 0 0.000602214 0 0 ASTN1 460 broad.mit.edu 37 1 176915101 176915101 + Missense_Mutation SNP T T C rs35946265 byFrequency TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr1:176915101T>C ENST00000367654.2 - 13 2247 c.2234A>G c.(2233-2235)aAg>aGg p.K745R ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.K737R|ASTN1_ENST00000424564.2_Missense_Mutation_p.K737R|ASTN1_ENST00000361833.2_Missense_Mutation_p.K737R O14525 ASTN1_HUMAN astrotactin 1 745 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGCCACTTCCTTGGAATGGTT 0.478000 14 112 0 0 0.000151284 0 0 AFAP1 60312 broad.mit.edu 37 4 7780517 7780517 + Silent SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr4:7780517G>A ENST00000420658.1 - 14 2141 c.1869C>T c.(1867-1869)ccC>ccT p.P623P AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000360265.4_Silent_p.P539P|AFAP1_ENST00000382543.3_Silent_p.P623P|AFAP1_ENST00000358461.2_Silent_p.P539P NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 573 Interaction with F-actin (By similarity). actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 CAACAGCCGCGGGATCCGCTT 0.532000 21 192 0 0 0.000295444 0 0 CAPN10 11132 broad.mit.edu 37 2 241533417 241533417 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr2:241533417C>T ENST00000391984.2 + 5 979 c.783C>T c.(781-783)atC>atT p.I261I CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Silent_p.I261I|CAPN10_ENST00000354082.4_Silent_p.I261I|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Silent_p.I261I NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 261 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) TGCTGCGGATCCAGAACCCCT 0.697000 12 99 0 0 0.000151284 0 0 PCDH8 5100 broad.mit.edu 37 13 53420310 53420310 + Silent SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr13:53420310G>A ENST00000377942.3 - 1 2465 c.2262C>T c.(2260-2262)atC>atT p.I754I PCDH8_ENST00000338862.4_Silent_p.I754I NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 754 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CGGCCAGCACGATGATGACGA 0.701000 8 114 0 0 0.000151284 0 0 CADPS2 93664 broad.mit.edu 37 7 121960249 121960249 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr7:121960249C>T ENST00000334010.7 - 28 4276 c.3855G>A c.(3853-3855)atG>atA p.M1285I CADPS2_ENST00000313070.7_Missense_Mutation_p.M1246I|CADPS2_ENST00000412584.2_Missense_Mutation_p.M1246I|CADPS2_ENST00000449022.2_Missense_Mutation_p.M1287I NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 1287 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 CACTGTCTTTCATAGTAATGC 0.423000 7 65 0 0 8.12818e-05 0 0 AMBN 258 broad.mit.edu 37 4 71467326 71467326 + Silent SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr4:71467326G>A ENST00000322937.6 + 6 589 c.486G>A c.(484-486)ctG>ctA p.L162L AMBN_ENST00000449493.2_Silent_p.L147L NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 162 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) AACTGCCTCTGGTTCAGCAGC 0.512000 OREG0016218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 33 0 0 0.000602214 0 0 SHBG 6462 broad.mit.edu 37 17 7535032 7535032 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr17:7535032C>T ENST00000380450.4 + 5 712 c.681C>T c.(679-681)ctC>ctT p.L227L SHBG_ENST00000572262.1_Silent_p.L115L|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576728.1_Silent_p.L115L|SHBG_ENST00000441599.2_Silent_p.L227L|SHBG_ENST00000576478.1_Silent_p.L115L|SHBG_ENST00000575314.1_Silent_p.L169L|SHBG_ENST00000340624.5_Silent_p.L169L|SHBG_ENST00000416273.3_Silent_p.L227L|SHBG_ENST00000570547.1_Silent_p.L169L|SHBG_ENST00000574539.1_Silent_p.L169L|SHBG_ENST00000575903.1_Silent_p.L209L NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 227 Laminin G-like 2. hormone transport extracellular region androgen binding|protein homodimerization activity p.0?(1)|p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) GGATATTTCTCCCTCCAGGGA 0.557000 17 223 0 0 0.000175454 0 0 SYN2 6854 broad.mit.edu 37 3 12224831 12224831 + RNA SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr3:12224831C>T ENST00000432424.2 + 0 1500 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 CTTAAGGATCCGGACTCAAGC 0.468000 16 179 0 0 0.00074312 0 0 FAM214B 80256 broad.mit.edu 37 9 35108141 35108141 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr9:35108141G>A ENST00000378561.1 - 2 3186 c.131C>T c.(130-132)tCc>tTc p.S44F FAM214B_ENST00000603301.1_Missense_Mutation_p.S44F|FAM214B_ENST00000605244.1_Missense_Mutation_p.S44F|FAM214B_ENST00000378557.1_Missense_Mutation_p.S44F|FAM214B_ENST00000378554.2_Missense_Mutation_p.S44F|FAM214B_ENST00000322813.5_Missense_Mutation_p.S44F|FAM214B_ENST00000488109.2_Missense_Mutation_p.S44F|FAM214B_ENST00000378566.1_5'UTR Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 44 nucleus p.S44F(1) GACCCCGGGGGATGTCGCCCC 0.667000 4 14 0 0 0.00024832 0 0 CSE1L 1434 broad.mit.edu 37 20 47706113 47706113 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr20:47706113C>T ENST00000262982.2 + 19 2134 c.2011C>T c.(2011-2013)Ctg>Ttg p.L671L CSE1L_ENST00000542325.1_Silent_p.L454L|CSE1L_ENST00000396192.3_Silent_p.L615L NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 671 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) GTCTTTGCTTCTGGAAACACA 0.408000 7 49 0 0 0.000274275 0 0 DDX4 54514 broad.mit.edu 37 5 55110772 55110772 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr5:55110772C>T ENST00000505374.1 + 20 1851 c.1759C>T c.(1759-1761)Cgc>Tgc p.R587C DDX4_ENST00000511853.1_Missense_Mutation_p.R438C|DDX4_ENST00000353507.5_Missense_Mutation_p.R553C|DDX4_ENST00000354991.5_Missense_Mutation_p.R553C|DDX4_ENST00000514278.2_Missense_Mutation_p.R567C NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 587 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TGGAGATTTTCGCTTTGGAAA 0.403000 5 49 0 0 3.59834e-05 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958249 57958249 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr11:57958249G>A ENST00000311591.3 + 1 344 c.287G>A c.(286-288)cGc>cAc p.R96H NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) TCCCAGGCTCGCTGTGCAGCT 0.592000 12 74 0 0 0.000219431 0 0 SRSF9 8683 broad.mit.edu 37 12 120903445 120903445 + Nonsense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr12:120903445G>A ENST00000229390.3 - 2 517 c.334C>T c.(334-336)Cga>Tga p.R112* NM_003769.2 NP_003760.1 Q13242 SRSF9_HUMAN serine/arginine-rich splicing factor 9 112 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|RNA binding cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 9 ACAAGAACTCGGAAATCAGAT 0.473000 8 65 0 0 0.000442599 0 0 XIRP1 165904 broad.mit.edu 37 3 39228016 39228016 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr3:39228016G>A ENST00000340369.3 - 2 3149 c.2921C>T c.(2920-2922)cCc>cTc p.P974L XIRP1_ENST00000396251.1_Missense_Mutation_p.P974L|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 974 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) GTCCAGTGGGGGAACATGGAT 0.667000 10 59 0 0 0.00010058 0 0 KATNB1 10300 broad.mit.edu 37 16 57787354 57787354 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr16:57787354G>A ENST00000379661.3 + 12 1492 c.1100G>A c.(1099-1101)cGg>cAg p.R367Q NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 367 Interaction with PAFAH1B1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) GAGGATGACCGGGACGAGCGC 0.667000 6 33 0 0 0.000157383 0 0 TBP 6908 broad.mit.edu 37 6 170871246 170871246 + Missense_Mutation SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr6:170871246C>T ENST00000392092.2 + 3 701 c.422C>T c.(421-423)tCc>tTc p.S141F TBP_ENST00000540980.1_Missense_Mutation_p.S121F|TBP_ENST00000230354.6_Missense_Mutation_p.S141F NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 141 cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) CTGTATCCCTCCCCCATGACT 0.577000 7 35 0 0 0.000157383 0 0 FBP1 2203 broad.mit.edu 37 9 97382612 97382612 + Splice_Site SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr9:97382612C>T ENST00000415431.1 - 3 561 c.333_splice c.e3+1 p.R111_splice FBP1_ENST00000375326.4_Splice_Site_p.R111_splice NM_001127628.1 NP_001121100.1 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 111 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding kidney(1)|liver(1)|lung(1) 3 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) CAGACCCACCCTTTTCTCCGG 0.468000 12 54 0 0 0.000151284 0 0 TRIM39 56658 broad.mit.edu 37 6 30309586 30309586 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr6:30309586C>T ENST00000376659.5 + 8 1615 c.1017C>T c.(1015-1017)ctC>ctT p.L339L TRIM39_ENST00000540416.1_Silent_p.L339L|TRIM39-RPP21_ENST00000513556.1_Silent_p.L251L|TRIM39_ENST00000376656.4_Silent_p.L369L|TRIM39_ENST00000396551.3_Silent_p.L339L|TRIM39_ENST00000396547.1_Silent_p.L369L|TRIM39_ENST00000396548.1_Silent_p.L339L NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 TCCGGGATCTCCCTGACACAC 0.567000 10 29 0 0 0.000978159 0 0 HEPH 9843 broad.mit.edu 37 X 65409641 65409641 + Silent SNP C C T TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chrX:65409641C>T ENST00000519389.1 + 6 1265 c.1086C>T c.(1084-1086)ttC>ttT p.F362F HEPH_ENST00000336279.5_Silent_p.F41F|HEPH_ENST00000441993.2_Silent_p.F311F|HEPH_ENST00000374727.3_Silent_p.F311F|HEPH_ENST00000343002.2_Silent_p.F308F|HEPH_ENST00000419594.1_Silent_p.F311F Q9BQS7 HEPH_HUMAN hephaestin 308 Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CAGCATTTTTCCATGGACAGA 0.493000 4 12 0 0 0.00024832 0 0 TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94d106c8-8fa9-49f4-b013-58b3909fa36a df57dd72-f54c-4f51-a259-dd5b7f5fba12 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 5 3 --- --- --- ---