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 CDC42BPB 9578 broad.mit.edu 37 14 103416864 103416864 + Missense_Mutation SNP T T C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr14:103416864T>C ENST00000361246.2 - 25 3536 c.3248A>G c.(3247-3249)aAg>aGg p.K1083R NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1083 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CAGAGGCCTCTTGGACTGCTC 0.612000 21 68 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233785159 233785159 + Silent SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr2:233785159C>T ENST00000264051.3 - 5 941 c.663G>A c.(661-663)gaG>gaA p.E221E NGEF_ENST00000409079.1_Silent_p.E129E|NGEF_ENST00000373552.4_Silent_p.E129E NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 221 Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity p.E221E(3) central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) cctcctcctcctcttcttctt 0.572000 3 98 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39884776 39884776 + Missense_Mutation SNP C C G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr22:39884776C>G ENST00000341184.6 + 2 1639 c.1424C>G c.(1423-1425)gCa>gGa p.A475G NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 475 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) TACCCGCCTGCAGACCCCAGC 0.642000 4 19 0 0 1 0 0 SLN 6588 broad.mit.edu 37 11 107578641 107578641 + Silent SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr11:107578641G>T ENST00000531293.1 - 3 368 c.16C>A c.(16-18)Cgg>Agg p.R6R SLN_ENST00000305991.2_Silent_p.R6R|SLN_ENST00000525934.1_Silent_p.R6R O00631 SARCO_HUMAN sarcolipin 6 calcium ion transport|regulation of calcium ion transport integral to membrane|sarcoplasmic reticulum membrane enzyme regulator activity large_intestine(1)|lung(1) 2 Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219) AACAGCTCCCGGGTGTTTATC 0.498000 31 80 2.80507e-11 3.25388e-11 1 1 0 ZNF626 199777 broad.mit.edu 37 19 20807934 20807934 + Missense_Mutation SNP T T A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr19:20807934T>A ENST00000601440.1 - 4 895 c.749A>T c.(748-750)aAt>aTt p.N250I CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TCCAGTATGATTTCTCTTATG 0.373000 13 80 0 0 1 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36057735 36057735 + Silent SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr11:36057735C>T ENST00000315571.5 + 2 150 c.129C>T c.(127-129)atC>atT p.I43I LDLRAD3_ENST00000524419.1_Intron|LDLRAD3_ENST00000528989.1_Intron NM_174902.2 NP_777562.1 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain containing 3 43 LDL-receptor class A 1. integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) GACGGTGCATCCCGGGCGCCT 0.607000 54 123 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617480 77617480 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr8:77617480C>T ENST00000521891.2 + 2 1605 c.1157C>T c.(1156-1158)gCg>gTg p.A386V ZFHX4_ENST00000050961.6_Missense_Mutation_p.A386V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A386V|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A386V NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 386 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAGGAAGCGCGAGCACCTCG 0.532000 HNSCC(33;0.089) 5 94 0 0 1 0 0 CXorf67 340602 broad.mit.edu 37 X 51150097 51150097 + Missense_Mutation SNP A A C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:51150097A>C ENST00000342995.2 + 1 331 c.229A>C c.(229-231)Att>Ctt p.I77L chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 CTCCGCCGCCATTTTCATCAC 0.632000 10 42 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84498364 84498364 + Missense_Mutation SNP G G C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr10:84498364G>C ENST00000372142.2 + 4 596 c.322G>C c.(322-324)Gat>Cat p.D108H NRG3_ENST00000556918.1_Missense_Mutation_p.D159H|NRG3_ENST00000404576.2_Missense_Mutation_p.D133H|NRG3_ENST00000372141.2_Missense_Mutation_p.D329H|NRG3_ENST00000404547.1_Missense_Mutation_p.D329H NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 329 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.D108N(1)|p.D329N(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AGTCCGTTGTGATCAATTTCT 0.393000 12 117 0 0 1 0 0 RAB3C 115827 broad.mit.edu 37 5 57913475 57913475 + Silent SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr5:57913475C>A ENST00000282878.4 + 2 199 c.30C>A c.(28-30)gcC>gcA p.A10A NM_138453.2 NP_612462.1 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 10 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) CACAGATGGCCTCTGCCCAAG 0.413000 23 48 3.5997e-14 4.38005e-14 1 1 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139122 90139122 + RNA SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr2:90139122C>A ENST00000492446.1 + 0 45 TGAGGGTCCTCGCTCAGCTCC 0.532000 63 297 7.62596e-35 1.03665e-34 1 1 0 UGT2B10 7365 broad.mit.edu 37 4 69696589 69696589 + Missense_Mutation SNP A A G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr4:69696589A>G ENST00000265403.7 + 6 1606 c.1579A>G c.(1579-1581)Agg>Ggg p.R527G UGT2B10_ENST00000458688.2_Missense_Mutation_p.R443G NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 527 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GAAGGGAAAAAGGGATTAGTT 0.373000 3 106 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37941169 37941169 + Silent SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:37941169C>T ENST00000373087.6 + 2 188 c.72C>T c.(70-72)gaC>gaT p.D24D NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 24 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AATTTGAGGACAGCCACAGCC 0.637000 45 108 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 43 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128674755 128674755 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:128674755G>A ENST00000371113.4 + 2 239 c.74G>A c.(73-75)cGg>cAg p.R25Q OCRL_ENST00000357121.5_Missense_Mutation_p.R25Q|OCRL_ENST00000486673.1_Intron NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 25 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 GGTCCTCTCCGGGAGCCCTGC 0.622000 5 217 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61760987 61760987 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr16:61760987G>A ENST00000584337.1 - 9 2068 c.1547C>T c.(1546-1548)tCc>tTc p.S516F CDH8_ENST00000577730.1_Intron|CDH8_ENST00000577390.1_Intron|CDH8_ENST00000299345.6_Intron P55286 CADH8_HUMAN cadherin 8, type 2 626 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TAACAACATGGAGATATTTAC 0.368000 23 152 0 0 1 0 0 ANTXR2 118429 broad.mit.edu 37 4 80954628 80954628 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr4:80954628G>A ENST00000403729.2 - 9 1319 c.794C>T c.(793-795)aCg>aTg p.T265M ANTXR2_ENST00000295465.4_Missense_Mutation_p.T265M|ANTXR2_ENST00000307333.7_Missense_Mutation_p.T265M|ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000404191.1_Missense_Mutation_p.T188M NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 265 endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 GGACCTACTCGTTGTATATGT 0.393000 Juvenile Hyaline Fibromatosis 10 42 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 4 112 0 0 1 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95107178 95107178 + RNA SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr14:95107178G>T ENST00000469935.1 + 0 117 NR_015340.1 gcatgccacagagtggaagcc 0.562000 10 8 1.08611e-07 1.18857e-07 1 1 0 ECE2 9718 broad.mit.edu 37 3 183994343 183994343 + Silent SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr3:183994343G>A ENST00000404464.3 + 2 252 c.114G>A c.(112-114)ccG>ccA p.P38P ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Silent_p.P38P|ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron NM_001100120.1|NM_001100121.1 NP_001093590.1|NP_001093591.1 O60344 ECE2_HUMAN endothelin converting enzyme 2 0 Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGGCCTCCCCGGACGCCATGG 0.677000 3 32 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129468151 129468151 + Nonsense_Mutation SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:129468151C>A ENST00000421865.2 + 6 916 c.867C>A c.(865-867)tgC>tgA p.C289* NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 289 Laminin EGF-like 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGTGCATCTGCTATGGTCATG 0.418000 87 127 5.82527e-40 8.10878e-40 1 1 0 INTS5 80789 broad.mit.edu 37 11 62416099 62416099 + Missense_Mutation SNP A A C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr11:62416099A>C ENST00000330574.2 - 2 1505 c.1453T>G c.(1453-1455)Tgt>Ggt p.C485G NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 485 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 GTCTCTCCACACAGCTCTCCA 0.612000 60 170 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175096157 175096157 + Missense_Mutation SNP C C A rs147363762 byFrequency TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:175096157C>A ENST00000239462.4 + 13 3094 c.2981C>A c.(2980-2982)aCg>aAg p.T994K NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 994 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TTGACCTGGACGCCCCCCTCT 0.502000 38 88 4.06502e-11 4.6842e-11 1 1 0 IFNA2 3440 broad.mit.edu 37 9 21385240 21385240 + Missense_Mutation SNP T T C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr9:21385240T>C ENST00000380206.2 - 1 156 c.89A>G c.(88-90)cAc>cGc p.H30R NM_000605.3 NP_000596.2 P01563 IFNA2_HUMAN interferon, alpha 2 30 blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1) 13 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) ACCCAGGCTGTGGGTTTGAGG 0.532000 24 126 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28493803 28493803 + Missense_Mutation SNP T T A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr15:28493803T>A ENST00000261609.7 - 21 3238 c.3130A>T c.(3130-3132)Agt>Tgt p.S1044C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1044 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTTTCACGACTGTGTTGCTCA 0.398000 4 63 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237777543 237777543 + Silent SNP G G C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:237777543G>C ENST00000366574.2 + 37 5432 c.5115G>C c.(5113-5115)ctG>ctC p.L1705L RYR2_ENST00000542537.1_Silent_p.L1689L|RYR2_ENST00000360064.6_Silent_p.L1703L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1705 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.L1703L(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACTATGACCTGCTGATTGACA 0.537000 13 42 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49854899 49854899 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:49854899G>A ENST00000376088.3 + 13 2512 c.1871G>A c.(1870-1872)cGg>cAg p.R624Q CLCN5_ENST00000376108.3_Missense_Mutation_p.R554Q|CLCN5_ENST00000307367.2_Missense_Mutation_p.R554Q|CLCN5_ENST00000376091.3_Missense_Mutation_p.R624Q NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 554 CBS 1. excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) GCTCTTGGGCGGGAGGGCATC 0.488000 24 142 0 0 1 0 0 MASP2 10747 broad.mit.edu 37 1 11087510 11087510 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:11087510C>T ENST00000400897.3 - 11 1508 c.1493G>A c.(1492-1494)cGa>cAa p.R498Q NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan-binding lectin serine peptidase 2 498 Peptidase S1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) GGTGCCCATTCGAATGTCCAG 0.453000 10 209 0 0 1 0 0 PPME1 51400 broad.mit.edu 37 11 73914836 73914836 + Silent SNP T T C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr11:73914836T>C ENST00000328257.8 + 2 488 c.165T>C c.(163-165)gaT>gaC p.D55D PPME1_ENST00000542710.1_3'UTR|PPME1_ENST00000398427.4_Silent_p.D55D Q9Y570 PPME1_HUMAN protein phosphatase methylesterase 1 55 protein demethylation carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(2) 5 Breast(11;3.29e-05) CCATGGAAGATGTAGAAGTAG 0.378000 37 87 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108218987 108218987 + Silent SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr3:108218987G>A ENST00000273353.3 - 5 590 c.534C>T c.(532-534)aaC>aaT p.N178N NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 178 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CCTGAAAGGCGTTATTGGCAA 0.458000 7 46 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32036612 32036612 + Silent SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:32036612G>A ENST00000375244.3 - 16 6090 c.5889C>T c.(5887-5889)gtC>gtT p.V1963V TNXB_ENST00000375247.2_Silent_p.V1963V P22105 TENX_HUMAN tenascin XB 2045 Fibronectin type-III 12. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCAGGGCCTCGACATGGACAG 0.572000 6 111 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762768 130762768 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:130762768G>T ENST00000392429.1 + 2 3579 c.1201G>T c.(1201-1203)Gac>Tac p.D401Y TMEM200A_ENST00000296978.3_Missense_Mutation_p.D401Y|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D401Y NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 401 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CTTGGACTTAGACCGGGGTCC 0.507000 8 80 0.00448238 0.00472687 1 1 0 CUL4B 8450 broad.mit.edu 37 X 119694234 119694234 + Missense_Mutation SNP A A T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:119694234A>T ENST00000371322.5 - 1 321 c.260T>A c.(259-261)gTt>gAt p.V87D CUL4B_ENST00000404115.3_Missense_Mutation_p.V105D|CUL4B_ENST00000336592.6_Missense_Mutation_p.V92D NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 105 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AGCCACTGAAACCCCCAGGCA 0.527000 9 136 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38812783 38812783 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr3:38812783C>T ENST00000449082.2 - 4 585 c.586G>A c.(586-588)Gtc>Atc p.V196I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 196 sensory perception voltage-gated sodium channel complex p.V196I(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AGGGTAATGACGCTAAAATCC 0.458000 48 117 0 0 1 0 0 BICC1 80114 broad.mit.edu 37 10 60549467 60549467 + Missense_Mutation SNP A A T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr10:60549467A>T ENST00000373886.3 + 8 825 c.821A>T c.(820-822)cAt>cTt p.H274L NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 274 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 CTGTTAGAACATCTTGCTGGG 0.408000 10 253 0 0 1 0 0 ZNF205 7755 broad.mit.edu 37 16 3168975 3168975 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr16:3168975G>A ENST00000382192.3 + 6 759 c.554G>A c.(553-555)cGg>cAg p.R185Q RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R185Q NM_001278158.1|NM_003456.2 NP_001265087.1|NP_003447.2 O95201 ZN205_HUMAN zinc finger protein 205 185 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 GGCTCCAGCCGGCAGGCAGGA 0.667000 9 167 0 0 1 0 0 IST1 9798 broad.mit.edu 37 16 71957201 71957201 + Missense_Mutation SNP A A G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr16:71957201A>G ENST00000378799.6 + 8 1126 c.770A>G c.(769-771)aAt>aGt p.N257S IST1_ENST00000378798.5_Intron|IST1_ENST00000535424.1_Missense_Mutation_p.N270S|IST1_ENST00000541571.2_Missense_Mutation_p.N257S|IST1_ENST00000538850.1_Missense_Mutation_p.N109S|IST1_ENST00000544564.1_Missense_Mutation_p.N257S|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000329908.8_Missense_Mutation_p.N257S|IST1_ENST00000606369.1_Missense_Mutation_p.N109S|RP11-498D10.5_ENST00000567146.1_RNA NM_001270975.1 NP_001257904.1 P53990 IST1_HUMAN increased sodium tolerance 1 homolog (yeast) 255 Interaction with VPS37B.|Interaction with VTA1. cell cycle|cell division cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment protein binding TCAGATTTCAATGGACTGCCA 0.463000 12 94 0 0 1 0 0 FCRLB 127943 broad.mit.edu 37 1 161697043 161697043 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:161697043C>T ENST00000367948.2 + 8 1087 c.872C>T c.(871-873)cCc>cTc p.P291L FCRLB_ENST00000392158.1_Missense_Mutation_p.P291L|FCRLB_ENST00000367944.3_Silent_p.S249S|FCRLB_ENST00000367946.3_Missense_Mutation_p.P243S|FCRLB_ENST00000336830.5_Silent_p.S256S|FCRLB_ENST00000367945.1_Missense_Mutation_p.P236S|FCRLB_ENST00000495397.1_3'UTR Q6BAA4 FCRLB_HUMAN Fc receptor-like B 291 endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) ACAGGTTCTCCCCTGGACCCG 0.677000 13 56 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32955647 32955647 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr17:32955647C>T ENST00000321639.5 + 4 1122 c.794C>T c.(793-795)aCc>aTc p.T265I NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 265 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) TGGCATGTGACCTCGGAGCTG 0.617000 7 45 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159654545 159654545 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:159654545G>T ENST00000297267.9 + 11 3201 c.3001G>T c.(3001-3003)Gcc>Tcc p.A1001S FNDC1_ENST00000340366.6_Missense_Mutation_p.A938S NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1001 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) ACCCGGCCGGGCCCCACAACA 0.706000 4 15 0.0215528 0.0220599 1 1 0 OR1B1 347169 broad.mit.edu 37 9 125391041 125391041 + Silent SNP G G A rs142453546 TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr9:125391041G>A ENST00000304833.3 - 1 811 c.774C>T c.(772-774)taC>taT p.Y258Y RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA NM_001004450.1 NP_001004450.1 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, member 1 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 TGATGGTGCCGTAGAGGAAAC 0.532000 32 66 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153418558 153418558 + Silent SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:153418558C>A ENST00000369951.4 + 3 615 c.555C>A c.(553-555)gcC>gcA p.A185A OPN1LW_ENST00000463296.1_3'UTR NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 185 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGTGGACAGCCCCGCCCATCT 0.562000 21 116 1.22574e-08 1.34986e-08 1 1 0 TTI1 9675 broad.mit.edu 37 20 36627593 36627593 + Silent SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr20:36627593G>A ENST00000373448.2 - 6 3028 c.2790C>T c.(2788-2790)ttC>ttT p.F930F TTI1_ENST00000373447.3_Silent_p.F930F|TTI1_ENST00000449821.1_Silent_p.F930F NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 930 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 GCAGTACCTTGAAGGCTCTAA 0.582000 45 105 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 14 26 5.35267e-07 5.78487e-07 1 1 0 POM121L9P 29774 broad.mit.edu 37 22 24659512 24659512 + RNA SNP A A G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr22:24659512A>G ENST00000414583.2 + 0 3037 NR_003714.1 TGCCTGGGCCATGGAGCACTC 0.473000 4 27 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47682675 47682675 + Missense_Mutation SNP C C A rs140641930 byFrequency TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:47682675C>A ENST00000283303.2 + 6 1952 c.1694C>A c.(1693-1695)cCg>cAg p.P565Q GPR115_ENST00000327753.3_Missense_Mutation_p.P565Q|GPR115_ENST00000371220.1_Missense_Mutation_p.P622Q NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 565 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TTTGCCATCCCGGCGTTCGTC 0.488000 34 101 2.45108e-15 3.00343e-15 1 1 0 RFC1 5981 broad.mit.edu 37 4 39322109 39322109 + Missense_Mutation SNP T T G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr4:39322109T>G ENST00000381897.1 - 9 1122 c.989A>C c.(988-990)tAt>tCt p.Y330S RFC1_ENST00000349703.2_Missense_Mutation_p.Y330S|RFC1_ENST00000418436.1_5'UTR NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 330 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 TATTTCTTTATAAGAGCTCTC 0.378000 7 27 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77147419 77147419 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr3:77147419G>A ENST00000461745.1 + 2 1216 c.316G>A c.(316-318)Gga>Aga p.G106R ROBO2_ENST00000332191.8_Missense_Mutation_p.G106R|ROBO2_ENST00000487694.3_Missense_Mutation_p.G122R NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 106 Ig-like C2-type 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.G122R(2)|p.G106R(2) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ACCTGATGAAGGAAGCTACGT 0.517000 28 57 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110439768 110439768 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:110439768G>A ENST00000519681.1 + 17 1812 c.1370G>A c.(1369-1371)cGa>cAa p.R457Q PAK3_ENST00000372007.4_Missense_Mutation_p.R436Q|PAK3_ENST00000372010.1_Missense_Mutation_p.R451Q|PAK3_ENST00000425146.1_Missense_Mutation_p.R436Q|PAK3_ENST00000446737.1_Missense_Mutation_p.R436Q|PAK3_ENST00000360648.4_Missense_Mutation_p.R472Q|PAK3_ENST00000262836.4_Missense_Mutation_p.R451Q|PAK3_ENST00000417227.1_Missense_Mutation_p.R457Q|PAK3_ENST00000518291.1_Missense_Mutation_p.R472Q O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 451 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding p.R472P(1)|p.R436P(1) breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 GTGGTGACTCGAAAAGCTTAT 0.473000 TSP Lung(19;0.15) 28 164 0 0 1 0 0 HAVCR2 84868 broad.mit.edu 37 5 156533718 156533718 + Missense_Mutation SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr5:156533718C>A ENST00000307851.4 - 2 1044 c.314G>T c.(313-315)aGt>aTt p.S105I HAVCR2_ENST00000517358.1_5'UTR|HAVCR2_ENST00000522593.1_Missense_Mutation_p.S105I|CTB-120L21.1_ENST00000517708.1_RNA NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 105 Ig-like V-type. integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTAGATCCCACTGTCTGCTAG 0.448000 37 78 1.30998e-17 1.65172e-17 1 1 0 NHLRC3 387921 broad.mit.edu 37 13 39618295 39618295 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr13:39618295G>A ENST00000379600.3 + 5 977 c.655G>A c.(655-657)Gtt>Att p.V219I NHLRC3_ENST00000470258.1_Missense_Mutation_p.V22I|NHLRC3_ENST00000379599.2_Missense_Mutation_p.V152I NM_001012754.2 NP_001012772.1 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 219 extracellular region breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2) 11 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) ACCTCACAGTGTTACACTTGA 0.423000 9 372 0 0 1 0 0 C2CD2L 9854 broad.mit.edu 37 11 118980854 118980854 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr11:118980854C>T ENST00000336702.3 + 2 754 c.395C>T c.(394-396)cCa>cTa p.P132L NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 132 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 CCCCAACTCCCACCCAGAGCC 0.577000 17 148 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103280210 103280210 + Missense_Mutation SNP A A G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr13:103280210A>G ENST00000376052.3 + 8 968 c.952A>G c.(952-954)Ata>Gta p.I318V TPP2_ENST00000376065.4_Missense_Mutation_p.I318V P29144 TPP2_HUMAN tripeptidyl peptidase II 318 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GATAGAAGTTATAAATCATAA 0.358000 26 52 0 0 1 0 0 FNBP1 23048 broad.mit.edu 37 9 132757216 132757216 + Missense_Mutation SNP T T C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr9:132757216T>C ENST00000420781.1 - 2 264 c.46A>G c.(46-48)Aaa>Gaa p.K16E FNBP1_ENST00000355681.3_Missense_Mutation_p.K16E|FNBP1_ENST00000446176.2_Missense_Mutation_p.K16E Q96RU3 FNBP1_HUMAN formin binding protein 1 16 FCH.|Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) TGTGTGTGTTTTTCTAAGTTG 0.343000 T MLL AML 4 209 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4245604 4245604 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr16:4245604G>T ENST00000399609.3 - 5 572 c.560C>A c.(559-561)aCt>aAt p.T187N SRL_ENST00000537996.1_Missense_Mutation_p.T145N NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 646 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 ATCCACAAAAGTGACCCTCTC 0.463000 66 191 2.10938e-32 2.84521e-32 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20525713 20525713 + Missense_Mutation SNP G G C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr4:20525713G>C ENST00000504154.1 + 14 1603 c.1351G>C c.(1351-1353)Gag>Cag p.E451Q SLIT2_ENST00000503823.1_Missense_Mutation_p.E451Q|SLIT2_ENST00000503837.1_Missense_Mutation_p.E455Q|SLIT2_ENST00000273739.5_Missense_Mutation_p.E455Q NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 451 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CAACCCGATTGAGACCAGTGG 0.483000 5 324 0 0 1 0 0 TCEAL1 9338 broad.mit.edu 37 X 102885086 102885086 + Missense_Mutation SNP G G T rs1052146 TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:102885086G>T ENST00000372625.3 + 3 406 c.242G>T c.(241-243)gGg>gTg p.G81V TCEAL1_ENST00000469820.1_3'UTR|TCEAL1_ENST00000372624.3_Missense_Mutation_p.G81V|TCEAL1_ENST00000372626.3_Missense_Mutation_p.G81V NM_001006639.1|NM_004780.2 NP_001006640.1|NP_004771.2 Q15170 TCAL1_HUMAN transcription elongation factor A (SII)-like 1 79 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 CTGTTTGAGGGGCGCCCTCCC 0.552000 30 111 1.99505e-19 2.5714e-19 1 1 0 MPPED1 758 broad.mit.edu 37 22 43898634 43898634 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr22:43898634G>A ENST00000417669.1 + 6 1303 c.859G>A c.(859-861)Gaa>Aaa p.E287K MPPED1_ENST00000542779.1_Missense_Mutation_p.E287K|MPPED1_ENST00000414469.2_Missense_Mutation_p.E181K|MPPED1_ENST00000439548.1_Missense_Mutation_p.E129K|MPPED1_ENST00000443721.1_Missense_Mutation_p.E287K|MPPED1_ENST00000538182.1_Missense_Mutation_p.E320K O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 287 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) CCACATCCACGAAGGTCAGTA 0.602000 20 136 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248201969 248201969 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:248201969C>T ENST00000366479.2 + 1 496 c.400C>T c.(400-402)Cgt>Tgt p.R134C OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTATCCCATCCGTATAAGCAA 0.428000 25 200 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55285044 55285044 + Missense_Mutation SNP G G C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr19:55285044G>C ENST00000336077.6 + 3 370 c.330G>C c.(328-330)caG>caC p.Q110H KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.Q110H|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 110 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CCCCCTATCAGGTGTCAGCTC 0.517000 81 494 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129012218 129012218 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr4:129012218G>T ENST00000326639.6 + 6 632 c.421G>T c.(421-423)Ggt>Tgt p.G141C LARP1B_ENST00000264584.5_Missense_Mutation_p.G94C|LARP1B_ENST00000432347.2_Missense_Mutation_p.G141C|LARP1B_ENST00000441387.1_Missense_Mutation_p.G141C|LARP1B_ENST00000394288.3_Missense_Mutation_p.G141C|LARP1B_ENST00000512292.1_Missense_Mutation_p.G141C|LARP1B_ENST00000427266.1_Missense_Mutation_p.G141C|LARP1B_ENST00000354456.3_5'UTR NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 141 Arg-rich. RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 GAGAAGTGAGGGTGGTAATAT 0.408000 44 101 9.90819e-18 1.25841e-17 1 1 0 PARK2 5071 broad.mit.edu 37 6 162206908 162206908 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:162206908C>T ENST00000366898.1 - 7 869 c.767G>A c.(766-768)cGc>cAc p.R256H PARK2_ENST00000366892.1_Missense_Mutation_p.R256H|PARK2_ENST00000338468.3_Missense_Mutation_p.R65H|PARK2_ENST00000366894.1_Missense_Mutation_p.R65H|PARK2_ENST00000366896.1_Missense_Mutation_p.R107H|PARK2_ENST00000366897.1_Missense_Mutation_p.R228H NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 256 R -> C (in PARK2 and PARK; early and late onset; impairs the ability to ubiquitinate SNCAIP and ZNF746; dbSNP:rs34424986). aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) AATCACGTGGCGGGAGTTGCA 0.502000 10 43 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74228479 74228479 + Silent SNP T T C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:74228479T>C ENST00000316292.9 - 4 1705 c.714A>G c.(712-714)ccA>ccG p.P238P EEF1A1_ENST00000309268.6_Silent_p.P238P|EEF1A1_ENST00000331523.2_Silent_p.P238P|EEF1A1_ENST00000491404.1_Intron NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 238 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 TTGGACGAGTTGGTGGTAGGA 0.493000 OREG0003891|OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 45 95 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158644417 158644417 + Silent SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:158644417G>A ENST00000368148.3 - 9 1341 c.1161C>T c.(1159-1161)aaC>aaT p.N387N SPTA1_ENST00000368147.3_Silent_p.N387N NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 387 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAGTCTTCTCGTTCATCCAGC 0.468000 37 243 0 0 1 0 0 ESM1 11082 broad.mit.edu 37 5 54277902 54277902 + Missense_Mutation SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr5:54277902C>A ENST00000381405.4 - 2 519 c.374G>T c.(373-375)gGg>gTg p.G125V ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Intron NM_007036.4 NP_008967.1 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 125 angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding breast(1)|kidney(1)|large_intestine(4)|lung(4) 10 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) TTTTCCCGTCCCCCTGTCACA 0.498000 55 102 6.83704e-37 9.36728e-37 1 1 0 TFPI 7035 broad.mit.edu 37 2 188348883 188348883 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr2:188348883G>A ENST00000233156.3 - 6 890 c.596C>T c.(595-597)aCt>aTt p.T199I TFPI_ENST00000392365.1_Missense_Mutation_p.T199I|TFPI_ENST00000409676.1_Missense_Mutation_p.T199I|TFPI_ENST00000339091.4_Missense_Mutation_p.T199I|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 199 blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) TGATTGCGGAGTCAGGGAGTT 0.383000 13 94 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144769869 144769869 + Missense_Mutation SNP A A G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:144769869A>G ENST00000367545.3 + 16 2036 c.2036A>G c.(2035-2037)aAg>aGg p.K679R NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 679 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CCCCCAAAGAAGAGACAGATC 0.393000 18 36 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 299417 299417 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:299417G>A ENST00000390665.3 - 12 1517 c.1499C>T c.(1498-1500)tCg>tTg p.S500L NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 500 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTCCCAGTCCGAGAGCTCGGG 0.711000 20 43 0 0 1 0 0 SPATA31D3 389762 broad.mit.edu 37 9 84562902 84562902 + RNA SNP A A T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr9:84562902A>T ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA TATGAAGCCCATATTAAATCT 0.433000 3 4 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103014067 103014067 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr11:103014067G>T ENST00000375735.2 + 18 2789 c.2645G>T c.(2644-2646)tGg>tTg p.W882L DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W882L NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 882 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GTACATGATTGGGAGAAAAAT 0.303000 41 56 1.19451e-25 1.5866e-25 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11039214 11039214 + RNA SNP T T C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr21:11039214T>C ENST00000470054.1 - 0 989 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTGGAGGCCTTGATTCTTCT 0.428000 12 341 0 0 1 0 0 USH1G 124590 broad.mit.edu 37 17 72916368 72916368 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr17:72916368C>T ENST00000319642.1 - 2 745 c.563G>A c.(562-564)cGc>cAc p.R188H NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 188 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) CTGCAGCCGGCGGCTCAGGGT 0.682000 13 70 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53222721 53222721 + Silent SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:53222721C>T ENST00000452825.3 - 23 4537 c.4005G>A c.(4003-4005)gaG>gaA p.E1335E KDM5C_ENST00000375379.3_Silent_p.E1402E|KDM5C_ENST00000375383.3_Silent_p.E1361E|KDM5C_ENST00000404049.3_Silent_p.E1404E|KDM5C_ENST00000375401.3_Silent_p.E1405E NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 1405 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 GCAGGTCCCCCTCCATCATGA 0.617000 """N, F, S""" clear cell renal carcinoma 14 89 0 0 1 0 0 PARD6A 50855 broad.mit.edu 37 16 67695394 67695394 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr16:67695394G>T ENST00000458121.2 + 2 191 c.100G>T c.(100-102)Gct>Tct p.A34S PARD6A_ENST00000602551.1_Missense_Mutation_p.A34S|PARD6A_ENST00000219255.3_Missense_Mutation_p.A34S NM_001037281.1|NM_016948.2 NP_001032358.1|NP_058644.1 Q9NPB6 PAR6A_HUMAN par-6 family cell polarity regulator alpha 34 Interaction with PRKCI and PRKCZ.|OPR. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GCTGCCTCGCGCTTCGGTGAG 0.657000 27 172 8.4185e-14 1.0033e-13 1 1 0 GOLGA6L17P 642402 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 4 11 0.217242 0.221053 1 1 0 FREM1 158326 broad.mit.edu 37 9 14842398 14842398 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr9:14842398C>T ENST00000380881.4 - 10 2472 c.1657G>A c.(1657-1659)Gcc>Acc p.A553T FREM1_ENST00000422223.2_Missense_Mutation_p.A552T|FREM1_ENST00000380880.3_Missense_Mutation_p.A552T Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 552 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCATCACTGGCGTCCACATCT 0.517000 17 113 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23929457 23929457 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr13:23929457C>T ENST00000382298.3 - 8 1882 c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.E432K NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 432 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CCTTTTGCTTCATCATCTCTG 0.458000 25 55 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27736340 27736340 + Silent SNP A A G rs71584884 TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:27736340A>G ENST00000430629.2 - 8 1400 c.1185T>C c.(1183-1185)ccT>ccC p.P395P WASF2_ENST00000536657.1_Intron NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 395 Poly-Pro. actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) gaggaggaggagggggaggag 0.642000 4 87 0 0 1 0 0 PRRX1 5396 broad.mit.edu 37 1 170689004 170689004 + Missense_Mutation SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:170689004C>A ENST00000239461.6 + 2 692 c.379C>A c.(379-381)Ctt>Att p.L127I PRRX1_ENST00000497230.2_Missense_Mutation_p.L127I|PRRX1_ENST00000367760.3_Missense_Mutation_p.L127I NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 127 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.L127V(2) large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCGAGAAGACCTTGCCCGCCG 0.552000 21 126 4.26978e-12 5.01987e-12 1 1 0 ALDOA 226 broad.mit.edu 37 16 30080641 30080641 + Silent SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr16:30080641C>T ENST00000566897.1 + 9 1707 c.555C>T c.(553-555)ccC>ccT p.P185P ALDOA_ENST00000395248.1_Silent_p.P239P|ALDOA_ENST00000569798.1_Silent_p.P185P|ALDOA_ENST00000563060.2_Silent_p.P185P|ALDOA_ENST00000569545.1_Silent_p.P185P|ALDOA_ENST00000412304.2_Silent_p.P185P|ALDOA_ENST00000564595.2_Silent_p.P239P|ALDOA_ENST00000338110.5_Silent_p.P185P|ALDOA_ENST00000564546.1_Silent_p.P185P|ALDOA_ENST00000395240.3_Silent_p.P189P P04075 ALDOA_HUMAN aldolase A, fructose-bisphosphate 185 actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 17 GCATTGTGCCCATCGTGGAGC 0.577000 OREG0023729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 148 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220195819 220195819 + Missense_Mutation SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:220195819C>A ENST00000366923.3 - 9 1254 c.985G>T c.(985-987)Ggg>Tgg p.G329W NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 329 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) AACTGGCTCCCTTTTTTCATT 0.348000 61 135 3.77215e-22 4.935e-22 1 1 0 OGT 8473 broad.mit.edu 37 X 70764469 70764469 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:70764469G>A ENST00000373719.3 + 4 732 c.515G>A c.(514-516)cGc>cAc p.R172H OGT_ENST00000373701.3_Missense_Mutation_p.R162H|OGT_ENST00000498566.1_3'UTR NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 172 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) GCCCTGGGTCGCTTGGAAGAA 0.413000 4 26 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52233423 52233423 + Missense_Mutation SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr8:52233423C>A ENST00000356297.4 - 22 4281 c.4181G>T c.(4180-4182)gGg>gTg p.G1394V RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_Missense_Mutation_p.R1312S NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1394 VWFC. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATCTGTACACCCTGCCTGCCT 0.498000 41 313 5.20006e-24 6.85463e-24 1 1 0 ZNF784 147808 broad.mit.edu 37 19 56135825 56135825 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr19:56135825G>T ENST00000591479.1 - 1 107 c.103C>A c.(103-105)Cgt>Agt p.R35S ZNF784_ENST00000325351.4_Intron Q8NCA9 ZN784_HUMAN zinc finger protein 784 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CGAGCCCCACGCCCAGGCCCC 0.711000 4 23 0.00024832 0.000265078 1 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140346470 140346470 + Missense_Mutation SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr5:140346470C>A ENST00000289269.5 + 1 651 c.119C>A c.(118-120)gCg>gAg p.A40E PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 40 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGCCCTGCGGCCTCCCAG 0.706000 4 15 0.00909568 0.00942053 1 1 0 KIAA1432 57589 broad.mit.edu 37 9 5763524 5763524 + Missense_Mutation SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr9:5763524C>A ENST00000414202.2 + 19 2688 c.2497C>A c.(2497-2499)Cgt>Agt p.R833S KIAA1432_ENST00000449720.2_Missense_Mutation_p.R717S|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R754S|KIAA1432_ENST00000251879.6_Missense_Mutation_p.R833S|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R754S NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 833 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CCACATTCTACGTCAACTTCT 0.498000 3 81 1 1 1 1 0 BCHE 590 broad.mit.edu 37 3 165547329 165547329 + Missense_Mutation SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr3:165547329C>A ENST00000264381.3 - 2 1659 c.1493G>T c.(1492-1494)cGg>cTg p.R498L BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 498 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) ATTTGCCCACCGTTTCACTAT 0.388000 27 77 4.65686e-17 5.82946e-17 1 1 0 NIN 51199 broad.mit.edu 37 14 51230544 51230544 + Splice_Site SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr14:51230544C>A ENST00000245441.5 - 15 1964 c.1774_splice c.e15+1 p.G592_splice NIN_ENST00000530997.2_Splice_Site_p.G592_splice|NIN_ENST00000453196.1_Splice_Site_p.G592_splice|NIN_ENST00000389868.3_Splice_Site_p.G592_splice|NIN_ENST00000382043.4_Splice_Site_p.G592_splice|NIN_ENST00000324330.9_Splice_Site_p.G592_splice|NIN_ENST00000382041.3_Splice_Site_p.G592_splice NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 592 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) ATGTGTTTACCGTGTTCGGGC 0.438000 T PDGFRB MPD 18 40 1.87028e-06 2.00882e-06 1 1 0 USP24 23358 broad.mit.edu 37 1 55563660 55563660 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:55563660G>T ENST00000294383.6 - 47 5550 c.5551C>A c.(5551-5553)Cta>Ata p.L1851I USP24_ENST00000407756.1_Missense_Mutation_p.L1691I NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1851 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CTTCCTTCTAGAACTTCTCCT 0.358000 22 65 4.7796e-09 5.29714e-09 1 1 0 CORIN 10699 broad.mit.edu 37 4 47680006 47680006 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr4:47680006C>T ENST00000273857.4 - 9 1197 c.1198G>A c.(1198-1200)Gat>Aat p.D400N CORIN_ENST00000504584.1_Missense_Mutation_p.D363N|CORIN_ENST00000505909.1_Missense_Mutation_p.D363N|CORIN_ENST00000508498.1_Missense_Mutation_p.D261N|CORIN_ENST00000502252.1_Missense_Mutation_p.D333N NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 400 LDL-receptor class A 4. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TCGTCACCATCACATTGAAAC 0.488000 9 83 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104119162 104119162 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr10:104119162G>A ENST00000369983.3 + 11 1407 c.1147G>A c.(1147-1149)Gtg>Atg p.V383M GBF1_ENST00000476019.1_3'UTR NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 383 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TCCCCGGGGCGTGCGCTTTAC 0.562000 14 90 0 0 1 0 0 GPR161 23432 broad.mit.edu 37 1 168054972 168054972 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:168054972C>T ENST00000367838.1 - 8 1700 c.1387G>A c.(1387-1389)Gca>Aca p.A463T GPR161_ENST00000537209.1_Missense_Mutation_p.A483T|GPR161_ENST00000361697.2_Missense_Mutation_p.A463T|GPR161_ENST00000539777.1_Missense_Mutation_p.A385T|GPR161_ENST00000367836.1_Missense_Mutation_p.A331T|GPR161_ENST00000546300.1_Missense_Mutation_p.A349T|GPR161_ENST00000367835.1_Missense_Mutation_p.A463T|GPR161_ENST00000271357.5_Missense_Mutation_p.A463T NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 463 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) AAGCTTGCTGCGTAACTGTCC 0.512000 4 94 0 0 1 0 0 MIR92A2 407049 broad.mit.edu 37 X 133303580 133303580 + RNA SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:133303580C>T ENST00000385299.1 - 0 62 NR_029509.1 TTCCACAGGCCGGGACAAGTG 0.388000 4 120 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201054580 201054580 + Silent SNP A A C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:201054580A>C ENST00000362061.3 - 8 1360 c.1134T>G c.(1132-1134)gtT>gtG p.V378V CACNA1S_ENST00000367338.3_Silent_p.V378V NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 378 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGAAGTCCTCAACATCCATGA 0.567000 70 166 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28896489 28896489 + Silent SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr13:28896489G>A ENST00000282397.4 - 22 3212 c.2961C>T c.(2959-2961)gaC>gaT p.D987D FLT1_ENST00000543394.1_Silent_p.D10D|FLT1_ENST00000540678.1_Silent_p.D205D NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 987 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TGTAGAAACCGTCAGAATCTG 0.413000 25 35 0 0 1 0 0 ZNF114 163071 broad.mit.edu 37 19 48789256 48789256 + Silent SNP T T C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr19:48789256T>C ENST00000595607.1 + 6 869 c.375T>C c.(373-375)gaT>gaC p.D125D ZNF114_ENST00000315849.1_Silent_p.D125D|ZNF114_ENST00000600687.1_Silent_p.D125D|ZNF114_ENST00000597695.1_Silent_p.D91D Q8NC26 ZN114_HUMAN zinc finger protein 114 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) TTTGTGAAGATCATGAAATGA 0.463000 11 82 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138656975 138656975 + Silent SNP C C T rs149960236 byFrequency TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr9:138656975C>T ENST00000298480.5 + 12 1208 c.1134C>T c.(1132-1134)gtC>gtT p.V378V KCNT1_ENST00000486577.2_Silent_p.V339V|KCNT1_ENST00000263604.3_Silent_p.V359V|KCNT1_ENST00000487664.1_Silent_p.V333V|KCNT1_ENST00000371757.2_Silent_p.V378V|KCNT1_ENST00000491806.2_Silent_p.V345V|KCNT1_ENST00000490355.2_Silent_p.V359V|KCNT1_ENST00000488444.2_Silent_p.V359V B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 378 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TCCTGTGTGTCAGCTCCCTCA 0.622000 6 110 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23524611 23524611 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr5:23524611G>T ENST00000296682.3 + 10 1301 c.1119G>T c.(1117-1119)tgG>tgT p.W373C NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 373 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.W373*(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GCAGCAAGTGGAAGAAAGAGC 0.463000 HNSCC(3;0.000094) 23 75 5.45727e-16 6.7345e-16 1 1 0 TRPS1 7227 broad.mit.edu 37 8 116616864 116616864 + Silent SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr8:116616864G>A ENST00000395715.3 - 4 1909 c.1332C>T c.(1330-1332)acC>acT p.T444T TRPS1_ENST00000520276.1_Silent_p.T435T|TRPS1_ENST00000220888.5_Silent_p.T431T|TRPS1_ENST00000519674.1_Silent_p.T431T|TRPS1_ENST00000519076.1_Intron NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 431 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGTAGTAACTGGTGGCCTCTG 0.463000 Langer-Giedion syndrome 4 73 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94041990 94041990 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr7:94041990C>T ENST00000297268.6 + 25 1970 c.1499C>T c.(1498-1500)cCc>cTc p.P500L NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 500 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCCAAAGGCCCCACTGTAAGA 0.522000 HNSCC(75;0.22) 10 60 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153149964 153149964 + Silent SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr5:153149964G>A ENST00000285900.5 + 13 2602 c.2259G>A c.(2257-2259)ggG>ggA p.G753G GRIA1_ENST00000448073.4_Silent_p.G763G|GRIA1_ENST00000518142.1_Silent_p.G673G|GRIA1_ENST00000521843.2_Silent_p.G684G|GRIA1_ENST00000518783.1_Silent_p.G763G|GRIA1_ENST00000340592.5_Silent_p.G753G NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 753 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CACCCAAGGGGTCTGCCCTGA 0.512000 34 50 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40854275 40854275 + Missense_Mutation SNP C C A rs149079553 TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr18:40854275C>A ENST00000255224.3 - 2 487 c.119G>T c.(118-120)aGa>aTa p.R40I SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.R22I NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 40 cell junction|integral to membrane|synaptic vesicle membrane transporter activity p.R40K(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 GGATGATTTTCTCTGACAGCA 0.408000 11 46 1.61879e-10 1.84098e-10 1 1 0 ARHGAP35 2909 broad.mit.edu 37 19 47422257 47422257 + Nonsense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr19:47422257C>T ENST00000404338.3 + 1 325 c.325C>T c.(325-327)Cga>Tga p.R109* NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 109 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity TCAACCTCATCGAAGCACGGC 0.498000 5 173 0 0 1 0 0 TMEFF1 8577 broad.mit.edu 37 9 103310129 103310129 + Missense_Mutation SNP A A G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr9:103310129A>G ENST00000374879.4 + 6 1096 c.664A>G c.(664-666)Ata>Gta p.I222V MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.Y185C|TMEFF1_ENST00000334943.6_Missense_Mutation_p.I183V NM_003692.4 NP_003683.2 transmembrane protein with EGF-like and two follistatin-like domains 1 NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1) 19 Acute lymphoblastic leukemia(62;0.0452) AGCATCTTGTATAAAGCAAGA 0.328000 12 81 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116616761 116616761 + Missense_Mutation SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr8:116616761C>A ENST00000395715.3 - 4 2012 c.1435G>T c.(1435-1437)Ggc>Tgc p.G479C TRPS1_ENST00000520276.1_Missense_Mutation_p.G470C|TRPS1_ENST00000220888.5_Missense_Mutation_p.G466C|TRPS1_ENST00000519674.1_Missense_Mutation_p.G466C|TRPS1_ENST00000519076.1_Intron NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 466 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GGATTAAGGCCGCCTGACTGC 0.428000 Langer-Giedion syndrome 4 98 0.000602214 0.000638935 1 1 0 ATRX 546 broad.mit.edu 37 X 76854906 76854906 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:76854906G>T ENST00000373344.5 - 25 6144 c.5930C>A c.(5929-5931)cCt>cAt p.P1977H ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.P1939H NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1977 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AGAAACAGAAGGATTGTTTCC 0.388000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 151 344 2.24169e-93 3.1456e-93 1 1 0 TBPL2 387332 broad.mit.edu 37 14 55881108 55881108 + Nonsense_Mutation SNP T T A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr14:55881108T>A ENST00000247219.5 - 7 1187 c.1117A>T c.(1117-1119)Aaa>Taa p.K373* NM_199047.2 NP_950248.1 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 373 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 CAGGCTTTTTTAAAACCTTTT 0.328000 7 42 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141122266 141122266 + Missense_Mutation SNP A A T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr2:141122266A>T ENST00000389484.3 - 72 12066 c.11095T>A c.(11095-11097)Tgt>Agt p.C3699S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3699 LDL-receptor class A 30. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGTCTCCACAGTCGTCCTCT 0.408000 TSP Lung(27;0.18) 15 101 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93606334 93606334 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr9:93606334G>A ENST00000375754.4 + 2 302 c.154G>A c.(154-156)Gcc>Acc p.A52T SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Missense_Mutation_p.A52T|SYK_ENST00000375751.4_Missense_Mutation_p.A52T|SYK_ENST00000375746.1_Missense_Mutation_p.A52T NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 52 SH2 1. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 GGGTGGCTTCGCCCTGTCCGT 0.637000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 7 19 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768026 31768026 + Missense_Mutation SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr19:31768026C>A ENST00000240587.4 - 2 3000 c.2673G>T c.(2671-2673)agG>agT p.R891S NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 891 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GGCGGCCCTTCCTCTTCTGGG 0.602000 18 27 3.99206e-14 4.82374e-14 1 1 0 CLMN 79789 broad.mit.edu 37 14 95669669 95669669 + Missense_Mutation SNP C C G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr14:95669669C>G ENST00000298912.4 - 9 2130 c.2017G>C c.(2017-2019)Gag>Cag p.E673Q NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 673 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) TCTTCTCCCTCTTCCTCATAA 0.542000 3 124 0 0 1 0 0 TIMM50 92609 broad.mit.edu 37 19 39976208 39976208 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr19:39976208G>A ENST00000314349.4 + 5 780 c.647G>A c.(646-648)cGc>cAc p.R216H TIMM50_ENST00000607714.1_Missense_Mutation_p.R113H|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000544017.1_Intron NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 113 FCP1 homology. mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGCAGTTGCGCCGGACATAC 0.517000 42 86 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23884589 23884589 + Splice_Site SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr14:23884589C>T ENST00000355349.3 - 36 5446 c.e36+1 CTD-2201G16.1_ENST00000557368.1_RNA NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGGGGACTTACATCCGTGATG 0.592000 15 237 0 0 1 0 0 TCP11 6954 broad.mit.edu 37 6 35090057 35090057 + Missense_Mutation SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:35090057C>A ENST00000311875.5 - 5 871 c.454G>T c.(454-456)Gct>Tct p.A152S TCP11_ENST00000373979.2_Missense_Mutation_p.A77S|TCP11_ENST00000418521.2_Missense_Mutation_p.A76S|TCP11_ENST00000444780.2_Missense_Mutation_p.A147S|TCP11_ENST00000373974.4_Missense_Mutation_p.A106S|TCP11_ENST00000244645.3_Missense_Mutation_p.A77S|TCP11_ENST00000412155.2_Missense_Mutation_p.A101S|TCP11_ENST00000512012.1_Missense_Mutation_p.A139S Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 139 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 ATGTCCAGAGCTTCTTCAATC 0.478000 4 135 1 1 1 1 0 FOXJ3 22887 broad.mit.edu 37 1 42744310 42744310 + Silent SNP A A T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:42744310A>T ENST00000372572.1 - 5 389 c.78T>A c.(76-78)tcT>tcA p.S26S FOXJ3_ENST00000361346.1_Silent_p.S26S|FOXJ3_ENST00000545068.1_Silent_p.S26S|FOXJ3_ENST00000372573.1_Silent_p.S26S|FOXJ3_ENST00000361776.1_Silent_p.S26S NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 26 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACCAGTCCATAGACGTTAGGC 0.423000 20 161 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27089556 27089556 + Nonsense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:27089556G>T ENST00000324856.7 + 8 2883 c.2512G>T c.(2512-2514)Gga>Tga p.G838* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.G455*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.G838* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 838 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CATGGGTGCCGGAGGTCAAAT 0.597000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 41 75 3.7052e-28 4.95927e-28 1 1 0 TMEM260 54916 broad.mit.edu 37 14 57085396 57085396 + Silent SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr14:57085396C>A ENST00000261556.6 + 10 1263 c.1141C>A c.(1141-1143)Cga>Aga p.R381R TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Silent_p.R381R|TMEM260_ENST00000553335.1_3'UTR NM_017799.3 NP_060269.3 transmembrane protein 260 TGAGACTAACCGAGTGCTGAA 0.443000 3 111 1 1 1 1 0 SPTBN5 51332 broad.mit.edu 37 15 42175664 42175664 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr15:42175664C>T ENST00000320955.6 - 8 1768 c.1541G>A c.(1540-1542)cGc>cAc p.R514H NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 514 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CCTCTGCCAGCGCACGGTAAC 0.597000 15 119 0 0 1 0 0 ANKRD53 79998 broad.mit.edu 37 2 71206315 71206315 + Missense_Mutation SNP C C A rs150548571 TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr2:71206315C>A ENST00000272421.6 + 2 525 c.259C>A c.(259-261)Cgc>Agc p.R87S ANKRD53_ENST00000360589.3_Missense_Mutation_p.R87S|ANKRD53_ENST00000457410.1_Intron|ANKRD53_ENST00000441349.1_Intron|AC007040.11_ENST00000606025.1_Intron NM_024933.3 NP_079209.3 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 87 endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 11 CACCCCGCCCCGCGCTGACCC 0.726000 18 131 1.56452e-12 1.85189e-12 1 1 0 GPR123 84435 broad.mit.edu 37 10 134909260 134909260 + Silent SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr10:134909260G>A ENST00000607359.1 + 11 2139 c.2139G>A c.(2137-2139)ccG>ccA p.P713P GPR123_ENST00000392607.3_Intron Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TCTCGGGCCCGCTGGCTGCCT 0.662000 12 26 0 0 1 0 0 LOC644669 644669 broad.mit.edu 37 18 15323273 15323273 + RNA SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr18:15323273G>A ENST00000455308.2 - 0 575 NR_027417.1 CTTATCAACTGCAATTGCATT 0.313000 4 21 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161318052 161318052 + Silent SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr5:161318052C>T ENST00000428797.2 + 9 1207 c.852C>T c.(850-852)gtC>gtT p.V284V GABRA1_ENST00000393943.4_Silent_p.V284V|GABRA1_ENST00000420560.1_Silent_p.V284V|GABRA1_ENST00000437025.2_Silent_p.V284V|GABRA1_ENST00000444819.1_Silent_p.V284V|GABRA1_ENST00000023897.6_Silent_p.V284V NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 284 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CAAGAACTGTCTTTGGTAAGT 0.388000 22 59 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158735726 158735726 + Silent SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:158735726G>A ENST00000335094.2 - 1 766 c.747C>T c.(745-747)ctC>ctT p.L249L NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L249L(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) CATAGAAGATGAGAACCACAG 0.537000 38 240 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148664269 148664269 + Silent SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:148664269G>A ENST00000367467.3 + 1 541 c.66G>A c.(64-66)gaG>gaA p.E22E SASH1_ENST00000367469.1_Intron NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 22 Pro-rich. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) cggagcccgagcccgcgccgg 0.736000 9 26 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79936432 79936432 + Missense_Mutation SNP C C G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr9:79936432C>G ENST00000360280.3 + 44 5860 c.5600C>G c.(5599-5601)tCt>tGt p.S1867C VPS13A_ENST00000376636.3_Missense_Mutation_p.S1828C|VPS13A_ENST00000357409.5_Missense_Mutation_p.S1867C|VPS13A_ENST00000376634.4_Missense_Mutation_p.S1867C NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1867 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GCCACTGGATCTTCAGCTGAC 0.338000 12 56 0 0 1 0 0 SPRY3 10251 broad.mit.edu 37 X 155003793 155003793 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:155003793C>T ENST00000302805.2 + 2 691 c.260C>T c.(259-261)tCa>tTa p.S87L NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 87 multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATTGCCAGCTCAATGTCCCAT 0.562000 20 202 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53518582 53518582 + Missense_Mutation SNP T T G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr14:53518582T>G ENST00000323669.5 - 12 2500 c.2501A>C c.(2500-2502)cAg>cCg p.Q834P DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000357758.3_Intron NM_001160148.1 NP_001153620.1 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 834 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) ATCTTTATTCTGCATTACATT 0.338000 6 9 0 0 1 0 0 PFAS 5198 broad.mit.edu 37 17 8166274 8166274 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr17:8166274G>T ENST00000314666.6 + 12 1506 c.1373G>T c.(1372-1374)aGg>aTg p.R458M PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.R34M NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 458 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCCGTCTACAGGATTGGAGTT 0.532000 30 117 5.43694e-19 6.95608e-19 1 1 0 POLA1 5422 broad.mit.edu 37 X 24761348 24761348 + Splice_Site SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:24761348G>A ENST00000379068.3 + 23 2511 c.2466_splice c.e23-1 p.G823_splice POLA1_ENST00000379059.3_Splice_Site_p.G817_splice P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 817 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) TGATATTAGGGAGATGAAGAT 0.358000 7 52 0 0 1 0 0 CYBA 1535 broad.mit.edu 37 16 88713578 88713578 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr16:88713578G>A ENST00000569359.1 - 3 150 c.134C>T c.(133-135)gCg>gTg p.A45V CYBA_ENST00000261623.3_Missense_Mutation_p.A45V|CYBA_ENST00000567174.1_Missense_Mutation_p.A45V P13498 CY24A_HUMAN cytochrome b-245, alpha polypeptide 45 cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport NADPH oxidase complex|stored secretory granule electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding p.A45V(1) endometrium(1)|liver(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0478) AAACACGCCCGCCACACTGAA 0.622000 3 37 0 0 1 0 0 CYP26C1 340665 broad.mit.edu 37 10 94821127 94821127 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr10:94821127G>A ENST00000285949.5 + 1 107 c.107G>A c.(106-108)cGc>cAc p.R36H NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 36 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) TGGACCCTCCGCTGGATGCTG 0.697000 3 14 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167247010 167247010 + Missense_Mutation SNP A A G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr3:167247010A>G ENST00000308378.3 - 10 1485 c.1180T>C c.(1180-1182)Tca>Cca p.S394P WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.S458P|WDR49_ENST00000476376.1_Missense_Mutation_p.S219P NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 394 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CCTCCACATGATACCAGGTTA 0.383000 24 48 0 0 1 0 0 MAPK9 5601 broad.mit.edu 37 5 179674482 179674482 + Missense_Mutation SNP C C T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr5:179674482C>T ENST00000452135.2 - 7 943 c.645G>A c.(643-645)atG>atA p.M215I MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000539014.1_3'UTR|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000393360.3_Missense_Mutation_p.M215I|MAPK9_ENST00000343111.6_Intron|MAPK9_ENST00000425491.2_Missense_Mutation_p.M215I P45984 MK09_HUMAN mitogen-activated protein kinase 9 215 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAGCTCTCCCATGATGCAAC 0.438000 16 78 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140306134 140306134 + Splice_Site SNP T T A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr4:140306134T>A ENST00000296543.5 + 18 2625 c.e18+2 NAA15_ENST00000398947.1_Splice_Site NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GATTATCAGGTAATCACTTTA 0.303000 8 83 0 0 1 0 0 HIST1H3E 8353 broad.mit.edu 37 6 26225701 26225701 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:26225701G>T ENST00000360408.1 + 1 319 c.319G>T c.(319-321)Gac>Tac p.D107Y NM_003532.2 NP_003523.1 P68431 H31_HUMAN histone cluster 1, H3e 107 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(5)|skin(1) 8 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) GCTTTTCGAGGACACCAACCT 0.572000 OREG0017240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 91 1.11057e-38 1.53365e-38 1 1 0 PAPOLA 10914 broad.mit.edu 37 14 97022661 97022661 + Missense_Mutation SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr14:97022661G>A ENST00000216277.8 + 19 2135 c.1915G>A c.(1915-1917)Gca>Aca p.A639T PAPOLA_ENST00000392990.2_Missense_Mutation_p.A639T NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 639 Ser/Thr-rich. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) AGGAAATGCAGCAACAAAAAT 0.433000 4 93 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74492422 74492422 + Missense_Mutation SNP T T G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:74492422T>G ENST00000437994.2 + 18 2480 c.2049T>G c.(2047-2049)agT>agG p.S683R CD109_ENST00000287097.5_Missense_Mutation_p.S683R|CD109_ENST00000422508.2_Missense_Mutation_p.S606R NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 683 Bait region (approximate) (By similarity). anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGGGTAGCAGTCCACATGTCC 0.348000 19 125 0 0 1 0 0 PGK1 5230 broad.mit.edu 37 X 77373665 77373665 + Silent SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:77373665C>A ENST00000373316.4 + 6 806 c.639C>A c.(637-639)ggC>ggA p.G213G PGK1_ENST00000537456.1_Silent_p.G185G|PGK1_ENST00000442431.1_Silent_p.G77G NM_000291.3 NP_000282.1 P00558 PGK1_HUMAN phosphoglycerate kinase 1 213 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 24 CCATCCTGGGCGGGTATGAAG 0.483000 38 112 1.68508e-10 1.90393e-10 1 1 0 SDK1 221935 broad.mit.edu 37 7 4172011 4172011 + Missense_Mutation SNP G G A rs141481774 TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr7:4172011G>A ENST00000404826.2 + 28 4323 c.4184G>A c.(4183-4185)cGg>cAg p.R1395Q SDK1_ENST00000389531.3_Missense_Mutation_p.R1395Q NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1395 Fibronectin type-III 8. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ACCTCCGTGCGGATAGTGTGG 0.617000 8 45 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47705160 47705160 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr21:47705160G>T ENST00000397708.1 - 2 295 c.41C>A c.(40-42)gCt>gAt p.A14D MCM3AP_ENST00000291688.1_Missense_Mutation_p.A14D O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 14 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CGCCGAAAAAGCACTAGGCTG 0.403000 19 147 1.50039e-11 1.75213e-11 1 1 0 SAMD9L 219285 broad.mit.edu 37 7 92761811 92761811 + Silent SNP T T C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr7:92761811T>C ENST00000318238.4 - 5 4690 c.3474A>G c.(3472-3474)aaA>aaG p.K1158K SAMD9L_ENST00000437805.1_Silent_p.K1158K|SAMD9L_ENST00000411955.1_Silent_p.K1158K NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1158 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTCTTGAGGCTTTTTCCGCAG 0.408000 4 224 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17432097 17432097 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr11:17432097G>T ENST00000302539.4 - 22 2788 c.2663C>A c.(2662-2664)aCc>aAc p.T888N ABCC8_ENST00000389817.3_Missense_Mutation_p.T887N NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 887 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TAGCTTGTGGGTCACTAAGAC 0.592000 51 248 9.10829e-22 1.18272e-21 1 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85531678 85531678 + Silent SNP G G A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr12:85531678G>A ENST00000393217.2 + 19 4321 c.4260G>A c.(4258-4260)gaG>gaA p.E1420E NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1420 IQ 3. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) CAGCTCTAGAGGCTATTAAGA 0.303000 28 77 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 3 120 0.004672 0.00489716 1 1 0 CALCR 799 broad.mit.edu 37 7 93065384 93065384 + Missense_Mutation SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr7:93065384C>A ENST00000359558.2 - 14 1430 c.1131G>T c.(1129-1131)aaG>aaT p.K377N CALCR_ENST00000394441.1_Missense_Mutation_p.K343N|CALCR_ENST00000360249.4_Missense_Mutation_p.K359N|CALCR_ENST00000426151.1_Missense_Mutation_p.K343N|CALCR_ENST00000421592.1_Missense_Mutation_p.K359N NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 359 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TCATGGTGGCCTTCACAGCCT 0.488000 21 56 4.35082e-09 4.88414e-09 1 1 0 SLIT1 6585 broad.mit.edu 37 10 98806497 98806497 + Silent SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr10:98806497G>T ENST00000266058.4 - 18 2012 c.1767C>A c.(1765-1767)gcC>gcA p.A589A ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.A589A NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 589 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CGCTCACAGAGGCTGCGCCCT 0.597000 15 101 1.99824e-07 2.17308e-07 1 1 0 NRDE2 55051 broad.mit.edu 37 14 90755385 90755385 + Missense_Mutation SNP G G C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr14:90755385G>C ENST00000354366.3 - 11 2566 c.2334C>G c.(2332-2334)aaC>aaG p.N778K NRDE2_ENST00000357904.3_Missense_Mutation_p.N547K NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing GGCAAAAGTTGTTGCAGTTTT 0.448000 6 269 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107975923 107975923 + Missense_Mutation SNP G G C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chrX:107975923G>C ENST00000372129.2 - 1 3728 c.3652C>G c.(3652-3654)Cgc>Ggc p.R1218G NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 1218 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CGGCGACTGCGAGGTGGTGGT 0.597000 47 317 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 40998260 40998260 + Splice_Site SNP C C A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr5:40998260C>A ENST00000399564.4 - 42 5102 c.4651_splice c.e42-1 p.R1551_splice MROH2B_ENST00000506092.2_Splice_Site_p.R1106_splice NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TGCTTGGAGTCCTGAAATGGC 0.498000 37 100 9.58827e-17 1.19169e-16 1 1 0 TRPC6 7225 broad.mit.edu 37 11 101374920 101374920 + Missense_Mutation SNP C C G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr11:101374920C>G ENST00000344327.3 - 2 1204 c.780G>C c.(778-780)caG>caC p.Q260H TRPC6_ENST00000532133.1_Missense_Mutation_p.Q260H|TRPC6_ENST00000348423.4_Missense_Mutation_p.Q260H|TRPC6_ENST00000360497.4_Missense_Mutation_p.Q260H NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 260 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GCTTCTGTTTCTGGTTGCAGT 0.478000 29 162 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82834518 82834518 + Missense_Mutation SNP T T C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr5:82834518T>C ENST00000265077.3 + 8 6261 c.5696T>C c.(5695-5697)aTa>aCa p.I1899T VCAN_ENST00000343200.5_Missense_Mutation_p.I912T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1899 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GCTGAAAATATAACCCAAACA 0.438000 53 147 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 5 112 0 0 1 0 0 ZNF672 79894 broad.mit.edu 37 1 249142584 249142584 + Missense_Mutation SNP G G C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:249142584G>C ENST00000306562.3 + 4 1857 c.1111G>C c.(1111-1113)Gag>Cag p.E371Q NM_024836.1 NP_079112.1 Q499Z4 ZN672_HUMAN zinc finger protein 672 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1) 5 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CAAATGCCCCGAGTGCAGCAA 0.642000 33 53 0 0 1 0 0 SUSD3 203328 broad.mit.edu 37 9 95841818 95841818 + Missense_Mutation SNP G G T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr9:95841818G>T ENST00000375472.3 + 4 527 c.491G>T c.(490-492)gGc>gTc p.G164V SUSD3_ENST00000375469.1_Missense_Mutation_p.G151V NM_145006.2 NP_659443.1 Q96L08 SUSD3_HUMAN sushi domain containing 3 164 integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 13 GCATACCTTGGCCTCAAGCAC 0.617000 15 68 5.03518e-11 5.76396e-11 1 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 3 6 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276143 186276145 + In_Frame_Del DEL CTC CTC - TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr1:186276143_186276145delCTC ENST00000445192.2 + 7 1337_1339 c.1292_1294delCTC c.(1291-1296)acc>a p.TP431del PRG4_ENST00000367486.3_In_Frame_Del_p.TP388del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP390del|PRG4_ENST00000367485.4_In_Frame_Del_p.TP338del|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 431 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GCACCCACCACTCCCAAGGAGCC 0.655 9 196 --- --- --- --- GOLIM4 27333 broad.mit.edu 37 3 167747642 167747644 + In_Frame_Del DEL CTG CTG - rs61743912 byFrequency TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr3:167747642_167747644delCTG ENST00000470487.1 - 10 2046_2048 c.1357_1359delCAG c.(1357-1359)del p.Q453del GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 453 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTGCCACctgctgctgctgc 0.640 8 81 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88986559 88986559 + Frame_Shift_Del DEL A A - TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr4:88986559delA ENST00000237596.2 + 11 2218 c.2152delA c.(2152-2154)aafs p.K719fs PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 719 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACTAAAACTGAAAAAAAATAC 0.383 7 184 --- --- --- --- TNPO1 3842 broad.mit.edu 37 5 72189463 72189463 + Frame_Shift_Del DEL A A - TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr5:72189463delA ENST00000337273.5 + 18 2502 c.2076delA c.(2074-2076)cgfs p.R692fs TNPO1_ENST00000454282.1_Frame_Shift_Del_p.R642fs|TNPO1_ENST00000523768.1_Frame_Shift_Del_p.R642fs|TNPO1_ENST00000506351.2_Frame_Shift_Del_p.R684fs NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 692 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) CAGAAGTTCGACAGAGTTCTT 0.373 25 178 --- --- --- --- HAVCR2 84868 broad.mit.edu 37 5 156535948 156535950 + In_Frame_Del DEL AGC AGC - TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr5:156535948_156535950delAGC ENST00000307851.4 - 1 775_777 c.45_47delGCT c.(43-48)cta>ct p.LL17del HAVCR2_ENST00000522593.1_In_Frame_Del_p.LL17del|CTB-120L21.1_ENST00000517708.1_RNA NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 17 integral to membrane p.L18delL(1)|p.L15L(1) cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTAAGTAGTAGCAGCAGCAGCA 0.438 7 120 --- --- --- --- TDRG1 732253 broad.mit.edu 37 6 40317144 40317144 + RNA DEL C C - TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:40317144delC ENST00000451810.1 + 0 313 TDRG1_ENST00000448559.1_RNA CCTCCACAGGCCCCCAGATTG 0.572 2 4 --- --- --- --- MAP3K7 6885 broad.mit.edu 37 6 91296568 91296570 + In_Frame_Del DEL GAG GAG - TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:91296568_91296570delGAG ENST00000369329.3 - 1 194_196 c.33_35delCTC c.(31-36)tcg>tc p.SS13del MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 13 Poly-Ser. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GGCCGAAGACGAGGAGGAGGAGG 0.655 10 88 --- --- --- --- GJA1 2697 broad.mit.edu 37 6 121768995 121768995 + Frame_Shift_Del DEL T T - TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr6:121768995delT ENST00000282561.3 + 2 1159 c.1002delT c.(1000-1002)ccfs p.P334fs NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 334 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) ATGCACAGCCTTTTGATTTCC 0.473 8 177 --- --- --- --- THAP5 168451 broad.mit.edu 37 7 108205008 108205009 + Frame_Shift_Del DEL AT AT - TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr7:108205008_108205009delAT ENST00000415914.3 - 3 967_968 c.814_815delAT c.(814-816)tfs p.I272fs THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Frame_Shift_Del_p.I230fs NM_001130475.1 NP_001123947.1 Q7Z6K1 THAP5_HUMAN THAP domain containing 5 272 cell cycle|negative regulation of cell cycle nucleus DNA binding|metal ion binding|protease binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 AAAAATGGCAATAACAGATTCT 0.322 39 82 --- --- --- --- DOCK4 9732 broad.mit.edu 37 7 111387388 111387388 + Frame_Shift_Del DEL G G - TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr7:111387388delG ENST00000428084.1 - 43 4800 c.4528delC c.(4528-4530)tgfs p.L1510fs DOCK4_ENST00000494651.2_Frame_Shift_Del_p.L384fs|DOCK4_ENST00000437633.1_Frame_Shift_Del_p.L1501fs Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1501 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CACATAGTCAGGGGATTAATA 0.398 18 48 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 9 15 --- --- --- --- POTEA 340441 broad.mit.edu 37 8 43216289 43216290 + RNA INS - - A TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr8:43216289_43216290insA ENST00000522175.2 + 0 1542_1543 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AGAAGTGGCCGAAAAAAAAATG 0.282 2 4 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113484879 113484879 + Frame_Shift_Del DEL G G - TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr8:113484879delG ENST00000297405.5 - 32 5580 c.5336delC c.(5335-5337)cafs p.P1779fs CSMD3_ENST00000343508.3_Frame_Shift_Del_p.P1739fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.P1675fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.P1779fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1779 CUB 10. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTAATTTTTTGGATAGTTTGG 0.353 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 207 --- --- --- --- UCHL3 7347 broad.mit.edu 37 13 76123902 76123916 + RNA DEL GGCGGCGGCGGCGAA GGCGGCGGCGGCGAA - rs8192737 TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr13:76123902_76123916delGGCGGCGGCGGCGAA ENST00000563635.1 + 0 0_8 GggcggaagcggcggcggcggcgaaggcggcggcT 0.716 OREG0022446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 7 --- --- --- --- NPC2 10577 broad.mit.edu 37 14 74951146 74951147 + Frame_Shift_Ins INS - - GG TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr14:74951146_74951147insGG ENST00000541064.1 - 3 340_341 c.334_335insCC c.(334-336)actfs p.T112fs NPC2_ENST00000238633.2_Frame_Shift_Ins_p.T112fs|NPC2_ENST00000434013.2_Frame_Shift_Ins_p.T112fs|NPC2_ENST00000557510.1_Frame_Shift_Ins_p.T112fs|NPC2_ENST00000555619.1_Frame_Shift_Ins_p.T112fs P61916 NPC2_HUMAN Niemann-Pick disease, type C2 112 cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus extracellular region|lysosome cholesterol binding|enzyme binding breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.00149) CACTGGTAGTTTATTCAGGTAG 0.475 97 185 --- --- --- --- CYP4F8 11283 broad.mit.edu 37 19 15734491 15734492 + RNA INS - - G TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr19:15734491_15734492insG ENST00000441682.2 + 0 979 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CTAGTGTGATTGGGGTTCTTGT 0.475 17 38 --- --- --- --- TTI1 9675 broad.mit.edu 37 20 36627694 36627694 + Frame_Shift_Del DEL G G - TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr20:36627694delG ENST00000373448.2 - 6 2927 c.2689delC c.(2689-2691)agfs p.Q897fs TTI1_ENST00000373447.3_Frame_Shift_Del_p.Q897fs|TTI1_ENST00000449821.1_Frame_Shift_Del_p.Q897fs NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 897 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TTGTGGGACTGAAGAACAACC 0.537 20 164 --- --- --- --- MGC20647 91370 broad.mit.edu 37 22 30642384 30642386 + In_Frame_Del DEL GAG GAG - TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09bbfb3c-a182-4f8f-b53c-540fad5f6c00 cdb4117f-8e30-4e18-8880-8fa1eda591b9 g.chr22:30642384_30642386delGAG ENST00000593843.1 + 2 200_202 c.200_202delGAG c.(199-204)cga>c p.RG67del LIF_ENST00000249075.3_Intron|LIF_ENST00000403987.3_Intron TGTCCggagcgaggaggaggagg 0.606 3 4 --- --- --- ---