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 NYAP2 57624 broad.mit.edu 37 2 226446804 226446804 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:226446804G>A ENST00000272907.6 + 4 1084 c.671G>A c.(670-672)cGg>cAg p.R224Q NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 224 TCGCTGCCGCGGGACTCCTCC 0.592000 32 298 0 0 0.000409698 0 0 SNX29P2 440352 broad.mit.edu 37 16 29367206 29367206 + RNA SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:29367206C>T ENST00000398878.3 + 0 1032 SNX29P2_ENST00000507381.1_RNA TGGGCCGGGGCCGCACCTGGC 0.652000 14 13 0 0 0.00074312 0 0 MGAM 8972 broad.mit.edu 37 7 141803218 141803218 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:141803218C>T ENST00000475668.2 + 70 8217 c.8163C>T c.(8161-8163)ttC>ttT p.F2721F MGAM_ENST00000549489.2_Silent_p.F1825F O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1825 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CACCCTCCTTCAACAATGACC 0.502000 10 15 0 0 0.000978159 0 0 CDC42EP3 10602 broad.mit.edu 37 2 37873383 37873383 + Missense_Mutation SNP T T A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:37873383T>A ENST00000295324.3 - 2 1348 c.348A>T c.(346-348)caA>caT p.Q116H AC006369.2_ENST00000419425.1_RNA NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3 NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2 Q9UKI2 BORG2_HUMAN CDC42 effector protein (Rho GTPase binding) 3 116 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 11 all_hematologic(82;0.172) ACATGAGAGCTTGGGATCCTC 0.557000 22 88 0 0 0.000229342 0 0 OS9 10956 broad.mit.edu 37 12 58114030 58114030 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:58114030G>A ENST00000315970.7 + 13 1790 c.1749G>A c.(1747-1749)gaG>gaA p.E583E OS9_ENST00000389146.6_Silent_p.E568E|OS9_ENST00000257966.8_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000439210.2_Intron|OS9_ENST00000551035.1_Intron|OS9_ENST00000389142.5_Intron|OS9_ENST00000413095.2_Intron|OS9_ENST00000552285.1_Intron|OS9_ENST00000435406.2_Intron NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 583 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TGGAGAGGGAGGGACTCACAG 0.632000 18 30 0 0 0.000132079 0 0 KMT2D 8085 broad.mit.edu 37 12 49425221 49425221 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:49425221G>A ENST00000301067.7 - 39 13266 c.13267C>T c.(13267-13269)Cca>Tca p.P4423S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGGGCACATGGCTCTTCCCGA 0.622000 14 20 0 0 0.000219431 0 0 GPR98 84059 broad.mit.edu 37 5 90084111 90084111 + Missense_Mutation SNP A A T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:90084111A>T ENST00000405460.2 + 68 13973 c.13877A>T c.(13876-13878)aAa>aTa p.K4626I GPR98_ENST00000425867.2_Missense_Mutation_p.K287I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4626 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCCAGAGCTAAAGATGTTACA 0.299000 15 48 0 0 0.000422831 0 0 JMJD1C 221037 broad.mit.edu 37 10 65024429 65024429 + Silent SNP A A G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:65024429A>G ENST00000399262.2 - 3 647 c.429T>C c.(427-429)agT>agC p.S143S JMJD1C_ENST00000402544.1_Intron|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000542921.1_5'UTR NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 143 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GCTGAAAGGCACTATCTTCAG 0.313000 17 49 0 0 0.000566183 0 0 CCDC38 120935 broad.mit.edu 37 12 96311013 96311013 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:96311013C>T ENST00000344280.3 - 4 755 c.198G>A c.(196-198)atG>atA p.M66I NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 66 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AATGACTCTTCATTCTGGATG 0.378000 15 22 0 0 0.000308642 0 0 NELL1 4745 broad.mit.edu 37 11 21135260 21135260 + Splice_Site SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:21135260G>A ENST00000298925.5 + 14 1663 c.1510_splice c.e14+1 p.E504_splice NELL1_ENST00000532434.1_Splice_Site_p.E476_splice|NELL1_ENST00000357134.5_Splice_Site_p.E476_splice|NELL1_ENST00000325319.5_Splice_Site_p.E419_splice Q92832 NELL1_HUMAN NEL-like 1 (chicken) 476 EGF-like 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 CTCTTGTACAGGTGAGCTTTA 0.393000 13 28 0 0 0.000219431 0 0 ZNF614 80110 broad.mit.edu 37 19 52521669 52521669 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:52521669G>A ENST00000270649.6 - 3 638 c.94C>T c.(94-96)Ctg>Ttg p.L32L ZNF614_ENST00000356322.6_Silent_p.L32L NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TCCCGGTACAGGTTCTTCTGA 0.502000 36 33 0 0 0.00058488 0 0 CAP2 10486 broad.mit.edu 37 6 17543150 17543150 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:17543150C>T ENST00000229922.2 + 10 1617 c.1085C>T c.(1084-1086)tCa>tTa p.S362L CAP2_ENST00000493172.1_Missense_Mutation_p.S102L|CAP2_ENST00000489374.1_Missense_Mutation_p.S250L|CAP2_ENST00000465994.1_Missense_Mutation_p.S298L|CAP2_ENST00000378990.2_Missense_Mutation_p.S336L NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 362 C-CAP/cofactor C-like. activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) TGCGAAAAATCAACTATTCAG 0.338000 48 81 0 0 0.000781405 0 0 PIK3CA 5290 broad.mit.edu 37 3 178921433 178921433 + Silent SNP A A T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:178921433A>T ENST00000263967.3 + 5 1072 c.915A>T c.(913-915)ccA>ccT p.P305P NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 305 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTACAATGCCATCTTATTCCA 0.368000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 26 103 0 0 0.00106085 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47548050 47548050 + Missense_Mutation SNP C C T rs146576339 byFrequency TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:47548050C>T ENST00000334194.3 + 4 412 c.409C>T c.(409-411)Cgc>Tgc p.R137C NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 137 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 GAAAAAGCACCGCCAGATTGT 0.448000 24 15 0 0 0.000586117 0 0 ABCA6 23460 broad.mit.edu 37 17 67132222 67132222 + Silent SNP T T C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:67132222T>C ENST00000590645.1 - 4 659 c.471A>G c.(469-471)ccA>ccG p.P157P ABCA6_ENST00000284425.2_Intron Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 0 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATATTTGATATGGAAAGTCAC 0.333000 9 42 0 0 0.000274275 0 0 PIGV 55650 broad.mit.edu 37 1 27121634 27121634 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:27121634C>T ENST00000374145.1 + 3 1791 c.1109C>T c.(1108-1110)cCc>cTc p.P370L PIGV_ENST00000078527.4_Missense_Mutation_p.P370L|PIGV_ENST00000449950.2_Missense_Mutation_p.P142L NM_001202554.1 NP_001189483.1 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan anchor biosynthesis, class V 370 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) CTAGAGAAGCCCGATCTTGGA 0.542000 74 46 0 0 0.000781405 0 0 AQP3 360 broad.mit.edu 37 9 33442339 33442339 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:33442339G>A ENST00000297991.4 - 5 750 c.670C>T c.(670-672)Ctt>Ttt p.L224F AQP3_ENST00000493581.1_5'UTR NM_004925.4 NP_004916.1 Q92482 AQP3_HUMAN aquaporin 3 (Gill blood group) 224 excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D basolateral plasma membrane|cell-cell junction|cytoplasm glycerol channel activity|water channel activity endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.0899) GCTGTAAAAAGGCGGGGGCCA 0.662000 15 9 0 0 0.00074312 0 0 PTK2B 2185 broad.mit.edu 37 8 27295002 27295002 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:27295002C>T ENST00000397501.1 + 22 2324 c.1516C>T c.(1516-1518)Ccc>Tcc p.P506S PTK2B_ENST00000397497.4_Missense_Mutation_p.P252S|PTK2B_ENST00000544172.1_Missense_Mutation_p.P506S|PTK2B_ENST00000346049.5_Missense_Mutation_p.P506S|PTK2B_ENST00000338238.4_Missense_Mutation_p.P506S|PTK2B_ENST00000420218.2_Missense_Mutation_p.P506S|PTK2B_ENST00000517339.1_Missense_Mutation_p.P506S NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 506 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) GGAATTGTATCCCTATGGGGA 0.562000 12 14 0 0 0.000219431 0 0 TRANK1 9881 broad.mit.edu 37 3 36898030 36898030 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:36898030C>T ENST00000301807.6 - 12 3298 c.1401G>A c.(1399-1401)gtG>gtA p.V467V TRANK1_ENST00000428977.2_Silent_p.V467V|TRANK1_ENST00000429976.2_Silent_p.V1017V NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1017 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TGAGGTCGATCACCGCGTACT 0.537000 55 80 0 0 0.000781405 0 0 KCNK9 51305 broad.mit.edu 37 8 140631316 140631316 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:140631316C>T ENST00000520439.1 - 2 373 c.310G>A c.(310-312)Gat>Aat p.D104N KCNK9_ENST00000303015.1_Missense_Mutation_p.D104N Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 104 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TTGCCCGCATCGGTGCCAGGT 0.612000 8 20 0 0 0.000274275 0 0 ZFP64 55734 broad.mit.edu 37 20 50768918 50768918 + Missense_Mutation SNP T T C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:50768918T>C ENST00000216923.4 - 6 2162 c.1813A>G c.(1813-1815)Acc>Gcc p.T605A ZFP64_ENST00000346617.4_Missense_Mutation_p.T551A|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.T603A|ZFP64_ENST00000371518.2_Intron NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 605 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CCCGAACTGGTAATGAAAGTT 0.562000 14 91 0 0 0.000308642 0 0 KCNH7 90134 broad.mit.edu 37 2 163374414 163374414 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:163374414G>A ENST00000332142.5 - 4 817 c.718C>T c.(718-720)Ccc>Tcc p.P240S KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.P240S NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 240 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TGCCTTTTGGGAGAGGAATGG 0.498000 5 8 0 0 3.59834e-05 0 0 OR2T33 391195 broad.mit.edu 37 1 248436865 248436865 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:248436865C>T ENST00000318021.2 - 1 273 c.252G>A c.(250-252)ttG>ttA p.L84L NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TACTTCCGGTCAAGTAGTCAG 0.577000 35 114 0 0 0.000953801 0 0 RSPH3 83861 broad.mit.edu 37 6 159398873 159398873 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:159398873G>A ENST00000367069.2 - 8 1590 c.954C>T c.(952-954)atC>atT p.I318I RSPH3_ENST00000252655.1_Silent_p.I460I|RSPH3_ENST00000449822.1_Silent_p.I222I|RSPH3_ENST00000297262.3_Silent_p.I364I Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 460 p.I460I(1) endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) CCACCTCACGGATCAACACTG 0.408000 53 34 0 0 0.000781405 0 0 PFKFB4 5210 broad.mit.edu 37 3 48563046 48563046 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:48563046G>A ENST00000232375.3 - 10 1156 c.1044C>T c.(1042-1044)ttC>ttT p.F348F PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Silent_p.F341F|PFKFB4_ENST00000541519.1_Silent_p.F314F|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000536104.1_Silent_p.F337F|PFKFB4_ENST00000383734.2_Intron NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 348 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) CCCGCAGGGCGAACTCCAGTG 0.562000 13 20 0 0 0.000422831 0 0 LRP6 4040 broad.mit.edu 37 12 12334021 12334021 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:12334021C>T ENST00000261349.4 - 6 1405 c.1329G>A c.(1327-1329)gaG>gaA p.E443E LRP6_ENST00000543091.1_Silent_p.E443E NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 443 Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding p.E443D(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CCTCTAAGTCCTCTGAAATCA 0.448000 146 227 0 0 0.000781405 0 0 DDX3X 1654 broad.mit.edu 37 X 41204721 41204721 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:41204721C>T ENST00000399959.2 + 12 2090 c.1235C>T c.(1234-1236)tCt>tTt p.S412F DDX3X_ENST00000457138.2_Missense_Mutation_p.S396F|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 412 Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding p.S412F(2) NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 GGCTCTACCTCTGAAAACATC 0.353000 HNSCC(61;0.18) 40 13 0 0 0.000781405 0 0 RHOV 171177 broad.mit.edu 37 15 41165488 41165488 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:41165488C>T ENST00000220507.4 - 3 628 c.479G>A c.(478-480)gGg>gAg p.G160E NM_133639.3 NP_598378.3 Q96L33 RHOV_HUMAN ras homolog family member V 160 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome membrane|plasma membrane GTP binding|metal ion binding central_nervous_system(1)|large_intestine(1) 2 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) CTCCCGGCCCCCCTGGTCCAG 0.662000 18 66 0 0 0.000132079 0 0 PCDHA9 9752 broad.mit.edu 37 5 140389311 140389311 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:140389311C>T ENST00000532602.1 + 4 3675 c.2642C>T c.(2641-2643)cCc>cTc p.P881L PCDHA10_ENST00000506939.2_Missense_Mutation_p.P616L|PCDHA7_ENST00000525929.1_Missense_Mutation_p.P868L|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P867L|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P878L|PCDHA8_ENST00000531613.1_Missense_Mutation_p.P881L|PCDHA11_ENST00000398640.2_Missense_Mutation_p.P880L|PCDHA5_ENST00000529859.1_Missense_Mutation_p.P867L|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P617L|PCDHA1_ENST00000504120.2_Missense_Mutation_p.P881L|PCDHA10_ENST00000307360.5_Missense_Mutation_p.P879L|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P881L|PCDHA4_ENST00000530339.1_Missense_Mutation_p.P878L|PCDHA13_ENST00000289272.2_Missense_Mutation_p.P881L|PCDHA6_ENST00000529310.1_Missense_Mutation_p.P881L|PCDHA2_ENST00000526136.1_Missense_Mutation_p.P879L|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.P938L|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.P894L|PCDHA12_ENST00000398631.2_Missense_Mutation_p.P872L|PCDHA3_ENST00000522353.2_Missense_Mutation_p.P881L|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P617L NM_031857.1 NP_114063.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATCCGGTCCCGGTGAGTTG 0.522000 26 39 0 0 0.000878237 0 0 DCHS2 54798 broad.mit.edu 37 4 155158041 155158041 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:155158041G>A ENST00000357232.3 - 25 6397 c.6398C>T c.(6397-6399)tCc>tTc p.S2133F NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2133 Cadherin 19. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ACTGATGATGGAATATTCAAC 0.383000 20 11 0 0 0.000958276 0 0 PCLO 27445 broad.mit.edu 37 7 82585181 82585181 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:82585181C>T ENST00000423517.2 - 5 5425 c.5088G>A c.(5086-5088)gaG>gaA p.E1696E PCLO_ENST00000333891.8_Silent_p.E1696E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1627 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CCAATTCTGGCTCTTCGTCAA 0.428000 14 27 0 0 0.000219431 0 0 CRIM1 51232 broad.mit.edu 37 2 36691751 36691751 + Missense_Mutation SNP G G T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:36691751G>T ENST00000280527.2 + 5 1311 c.944G>T c.(943-945)gGc>gTc p.G315V NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 315 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GTCTCTCGTGGCGATGGGACA 0.498000 26 128 1.66031e-10 2.19363e-09 0.000586117 1 0 OR5B3 441608 broad.mit.edu 37 11 58170611 58170611 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:58170611G>A ENST00000309403.2 - 1 271 c.272C>T c.(271-273)tCt>tTt p.S91F NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S91C(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGCATTGTAAGAGATGACCTT 0.433000 20 41 0 0 0.000295444 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39253944 39253944 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:39253944G>A ENST00000333822.4 - 1 449 c.393C>T c.(391-393)atC>atT p.I131I NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 131 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 agcagctggagatgctgcagc 0.672000 13 1 0 0 0.000151284 0 0 ZNF799 90576 broad.mit.edu 37 19 12503428 12503428 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:12503428C>T ENST00000419318.1 - 3 833 c.84G>A c.(82-84)agG>agA p.R28R ZNF799_ENST00000430385.3_Silent_p.R60R|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000595766.1_3'UTR|CTD-3105H18.16_ENST00000595562.1_Silent_p.R60R Q96GE5 ZN799_HUMAN zinc finger protein 799 60 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTAGATTTTTCCTGGGATATC 0.294000 26 31 0 0 0.00106085 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217279882 217279882 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:217279882C>T ENST00000357276.4 + 3 785 c.455C>T c.(454-456)cCt>cTt p.P152L SMARCAL1_ENST00000358207.5_Missense_Mutation_p.P152L NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 152 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CAGGCTTCACCTGAGATCAGG 0.512000 Schimke Immuno-Osseous Dysplasia 131 43 0 0 0.000781405 0 0 RGS22 26166 broad.mit.edu 37 8 101014456 101014456 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:101014456G>A ENST00000360863.6 - 18 2958 c.2764C>T c.(2764-2766)Cca>Tca p.P922S RGS22_ENST00000523437.1_Missense_Mutation_p.P910S|RGS22_ENST00000523287.1_Missense_Mutation_p.P741S NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 922 RGS 1. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGAGAAGCTGGACTGTTGGGT 0.323000 19 45 0 0 0.000295444 0 0 RFX7 64864 broad.mit.edu 37 15 56386859 56386859 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:56386859G>A ENST00000423270.1 - 9 3066 c.3067C>T c.(3067-3069)Ccg>Tcg p.P1023S RFX7_ENST00000422057.1_Missense_Mutation_p.P926S|RFX7_ENST00000317318.6_Missense_Mutation_p.P1023S|RFX7_ENST00000559447.2_Missense_Mutation_p.P926S NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 926 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 AATGCAAACGGATTCCTGCAT 0.493000 13 19 0 0 0.00010058 0 0 GNE 10020 broad.mit.edu 37 9 36233983 36233983 + Nonsense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:36233983G>A ENST00000396594.3 - 5 1120 c.1009C>T c.(1009-1011)Cga>Tga p.R337* GNE_ENST00000543356.2_Nonsense_Mutation_p.R301*|GNE_ENST00000447283.2_Nonsense_Mutation_p.R306*|GNE_ENST00000377902.5_Nonsense_Mutation_p.R306*|GNE_ENST00000539208.1_Nonsense_Mutation_p.R196*|GNE_ENST00000539815.1_Nonsense_Mutation_p.R306* NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 306 cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) CCAACTTCTCGAACCCCACAG 0.463000 74 66 0 0 0.000781405 0 0 PCK1 5105 broad.mit.edu 37 20 56139563 56139563 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:56139563G>A ENST00000535860.1 + 5 1015 c.904G>A c.(904-906)Gag>Aag p.E302K PCK1_ENST00000543666.1_Silent_p.S87S|PCK1_ENST00000319441.4_Silent_p.S404S P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 6 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) ACCCCAACTCGAGGTTCTGCA 0.587000 37 94 0 0 0.00111076 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228744 57228744 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:57228744G>A ENST00000396721.2 - 2 293 c.163C>T c.(163-165)Ctc>Ttc p.L55F SDR16C5_ENST00000303749.3_Missense_Mutation_p.L55F|SDR16C5_ENST00000522671.1_Missense_Mutation_p.L55F Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 55 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 AAGGCTAAGAGCCTTCCGAGT 0.502000 26 38 0 0 0.00047179 0 0 ITGB2 3689 broad.mit.edu 37 21 46323297 46323297 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr21:46323297G>A ENST00000397850.2 - 6 934 c.482C>T c.(481-483)aCc>aTc p.T161I ITGB2_ENST00000397852.1_Missense_Mutation_p.T161I|ITGB2_ENST00000397857.1_Missense_Mutation_p.T161I|ITGB2_ENST00000302347.5_Missense_Mutation_p.T161I|ITGB2_ENST00000397854.3_Intron|ITGB2_ENST00000355153.4_Missense_Mutation_p.T161I P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 161 VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GCCGGACTCGGTGATCTCGTT 0.597000 32 46 0 0 0.000491102 0 0 ETV1 2115 broad.mit.edu 37 7 13935665 13935665 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:13935665G>A ENST00000343495.5 - 13 1944 c.1206C>T c.(1204-1206)gcC>gcT p.A402A ETV1_ENST00000403527.1_Silent_p.A380A|ETV1_ENST00000430479.1_Silent_p.A420A|ETV1_ENST00000399357.3_Silent_p.A317A|ETV1_ENST00000405358.4_Silent_p.A434A|ETV1_ENST00000405218.2_Silent_p.A420A|ETV1_ENST00000405192.2_Silent_p.A397A|ETV1_ENST00000403685.1_Silent_p.A402A|ETV1_ENST00000242066.5_Silent_p.A402A|ETV1_ENST00000420159.2_Silent_p.A362A P50549 ETV1_HUMAN ets variant 1 420 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 TGGAGAAAAGGGCTTCTGGAT 0.483000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 15 16 0 0 0.000566183 0 0 TTN 7273 broad.mit.edu 37 2 179579149 179579149 + Nonsense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:179579149C>T ENST00000589042.1 - 91 26576 c.26352G>A c.(26350-26352)tgG>tgA p.W8784* TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W7540*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W8467*|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8467 Ig-like 70. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATAAGAAATCCATATGTTGT 0.413000 9 18 0 0 0.000442599 0 0 WBSCR17 64409 broad.mit.edu 37 7 71177002 71177002 + Splice_Site SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:71177002G>A ENST00000333538.5 + 11 2302 c.e11-1 WBSCR17_ENST00000498380.2_Splice_Site NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCCCCTCCCAGAATGGAGCCA 0.562000 46 49 0 0 0.000781405 0 0 SDK2 54549 broad.mit.edu 37 17 71380034 71380034 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:71380034G>A ENST00000392650.3 - 33 4686 c.4686C>T c.(4684-4686)gcC>gcT p.A1562A SDK2_ENST00000388726.3_Silent_p.A1562A NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1562 Fibronectin type-III 10. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CAGCCCATGTGGCCCCTGGGT 0.602000 21 55 0 0 0.000586117 0 0 CTD-2587H24.4 0 broad.mit.edu 37 19 55670814 55670814 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:55670814G>A ENST00000587871.1 - 4 225 c.226C>T c.(226-228)Cct>Tct p.P76S DNAAF3_ENST00000524407.2_Silent_p.Y414Y|DNAAF3_ENST00000455045.1_Silent_p.Y360Y|DNAAF3_ENST00000527223.2_Silent_p.Y481Y|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000391720.4_Silent_p.Y461Y|CTD-2587H24.5_ENST00000591665.1_RNA CGTCCACCAGGTACCTGCAGA 0.627000 13 53 0 0 0.000308642 0 0 AQP5 362 broad.mit.edu 37 12 50355884 50355884 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:50355884C>T ENST00000293599.6 + 1 232 c.84C>T c.(82-84)ggC>ggT p.G28G RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA NM_001651.2 NP_001642.1 P55064 AQP5_HUMAN aquaporin 5 28 carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity large_intestine(1)|lung(3) 4 TCTTCTTTGGCCTGGGCTCGG 0.667000 12 22 0 0 0.000308642 0 0 WNT7A 7476 broad.mit.edu 37 3 13860703 13860703 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:13860703G>A ENST00000285018.4 - 4 1092 c.788C>T c.(787-789)cCc>cTc p.P263L NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 263 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 CGTGTCCATGGGCTTGCGGTA 0.627000 38 69 0 0 0.000589545 0 0 CHD5 26038 broad.mit.edu 37 1 6181563 6181563 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:6181563C>T ENST00000262450.3 - 32 4869 c.4770G>A c.(4768-4770)ctG>ctA p.L1590L CHD5_ENST00000378021.1_Silent_p.L447L NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1590 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CCTGGACTTCCAGGGGCTGCC 0.587000 19 6 0 0 0.000175454 0 0 NHLRC4 283948 broad.mit.edu 37 16 618191 618191 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:618191C>T ENST00000424439.2 + 2 801 c.144C>T c.(142-144)ttC>ttT p.F48F NHLRC4_ENST00000540585.1_Silent_p.F48F|PIGQ_ENST00000409527.2_Intron P0CG21 NHLC4_HUMAN NHL repeat containing 4 48 GGCACACTTTCGGCTGCCCAG 0.652000 6 17 0 0 8.12818e-05 0 0 HEG1 57493 broad.mit.edu 37 3 124689608 124689608 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:124689608C>T ENST00000311127.4 - 17 4101 c.4034G>A c.(4033-4035)gGa>gAa p.G1345E NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 1345 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 CGGGTAGAGTCCGTTTCGTTC 0.438000 5 8 0 0 3.59834e-05 0 0 GTF2IRD2B 389524 broad.mit.edu 37 7 74564144 74564144 + Missense_Mutation SNP C C A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:74564144C>A ENST00000312575.7 + 16 2066 c.1891C>A c.(1891-1893)Ctt>Att p.L631I GTF2IRD2B_ENST00000418185.2_Missense_Mutation_p.L178I NM_001003795.2 NP_001003795.1 Q6EKJ0 GTD2B_HUMAN GTF2I repeat domain containing 2B 631 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|ovary(2)|prostate(1) 4 caataacgggcttgtcacaaa 0.507000 9 57 4.36969e-10 5.75927e-09 0.000151284 1 0 FAM83A 84985 broad.mit.edu 37 8 124195541 124195541 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:124195541G>A ENST00000518448.1 + 2 2459 c.445G>A c.(445-447)Gac>Aac p.D149N FAM83A_ENST00000522648.1_Missense_Mutation_p.D149N|FAM83A_ENST00000536633.1_Missense_Mutation_p.D149N|FAM83A_ENST00000276699.6_Missense_Mutation_p.D149N|FAM83A_ENST00000546351.1_Missense_Mutation_p.D149N|FAM83A_ENST00000318462.6_Missense_Mutation_p.D149N Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 149 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CAACATCAGAGACCTCGTCCG 0.597000 20 35 0 0 0.000958276 0 0 ASXL2 55252 broad.mit.edu 37 2 25990459 25990459 + Silent SNP G G C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:25990459G>C ENST00000435504.4 - 8 1061 c.768C>G c.(766-768)ctC>ctG p.L256L ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000336112.4_Silent_p.L228L|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACTGGTATGGAGTCTCTCAG 0.393000 29 51 0 0 0.000409698 0 0 PPP3CA 5530 broad.mit.edu 37 4 101961690 101961690 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:101961690C>T ENST00000394854.3 - 11 1873 c.1190G>A c.(1189-1191)aGg>aAg p.R397K PPP3CA_ENST00000523694.2_Missense_Mutation_p.R330K|PPP3CA_ENST00000394853.4_Missense_Mutation_p.R397K|PPP3CA_ENST00000507176.1_Missense_Mutation_p.R299K|PPP3CA_ENST00000323055.6_Missense_Mutation_p.R355K|PPP3CA_ENST00000512215.1_Missense_Mutation_p.R165K NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 397 Calmodulin-binding (Potential). protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) GATCTTGTTCCTTATCACCTC 0.393000 8 29 0 0 0.000274275 0 0 ESPNP 284729 broad.mit.edu 37 1 17030538 17030538 + RNA SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:17030538C>T ENST00000492551.1 - 0 797 NR_026567.1 AGTTCAGAGGCTGGACCGACA 0.632000 6 71 0 0 3.59834e-05 0 0 METTL22 79091 broad.mit.edu 37 16 8729067 8729067 + Nonsense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:8729067C>T ENST00000381920.3 + 5 856 c.598C>T c.(598-600)Cga>Tga p.R200* METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Nonsense_Mutation_p.R144* NM_024109.2 NP_077014.2 Q9BUU2 MET22_HUMAN methyltransferase like 22 200 methyltransferase activity large_intestine(5)|lung(4) 9 CATCCTGTTCCGACAGGACCT 0.637000 27 29 0 0 0.000720815 0 0 TRPM6 140803 broad.mit.edu 37 9 77407629 77407629 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:77407629C>T ENST00000451710.3 - 19 2686 c.2449G>A c.(2449-2451)Ggt>Agt p.G817S TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.G817S|TRPM6_ENST00000449912.2_Missense_Mutation_p.G812S|TRPM6_ENST00000376864.4_Missense_Mutation_p.G817S|TRPM6_ENST00000361255.3_Missense_Mutation_p.G812S Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 817 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CTTTCCAAACCAAAATGCTGA 0.388000 26 13 0 0 0.000878237 0 0 ECE2 9718 broad.mit.edu 37 3 183967612 183967612 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:183967612G>A ENST00000402825.3 + 1 130 c.130G>A c.(130-132)Gac>Aac p.D44N ECE2_ENST00000324557.4_Missense_Mutation_p.D44N|EIF2B5_ENST00000444495.1_Intron NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 44 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) TTGGTTCGGGGACTTCTCCTC 0.652000 OREG0015944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 34 0 0 0.000692331 0 0 SCN9A 6335 broad.mit.edu 37 2 167134676 167134676 + Missense_Mutation SNP A A C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:167134676A>C ENST00000375387.4 - 15 2834 c.2494T>G c.(2494-2496)Ttg>Gtg p.L832V SCN9A_ENST00000409435.1_Missense_Mutation_p.L831V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.L820V|SCN9A_ENST00000303354.6_Missense_Mutation_p.L832V Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 831 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AGAACTGACAATCCTTCCACA 0.343000 7 26 0 0 0.000442599 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948428 82948428 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:82948428C>T ENST00000274341.4 - 3 1166 c.316G>A c.(316-318)Gga>Aga p.G106R HAPLN1_ENST00000514416.1_Missense_Mutation_p.G106R NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 106 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) TGGTAGCCTCCATAGGTTTTT 0.433000 14 68 0 0 0.000422831 0 0 BAI3 577 broad.mit.edu 37 6 70065728 70065728 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:70065728G>A ENST00000370598.1 + 28 4392 c.3571G>A c.(3571-3573)Gat>Aat p.D1191N BAI3_ENST00000238918.8_Missense_Mutation_p.D397N|BAI3_ENST00000546190.1_Missense_Mutation_p.D155N NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1191 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CTTTGAAAAGGATGTAGACAT 0.284000 48 47 0 0 0.000781405 0 0 CEP350 9857 broad.mit.edu 37 1 180068003 180068003 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:180068003C>T ENST00000367607.3 + 37 9490 c.9072C>T c.(9070-9072)ttC>ttT p.F3024F CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 3024 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CACAGAGCTTCATAGCAAGTG 0.353000 8 38 0 0 0.000442599 0 0 HTRA1 5654 broad.mit.edu 37 10 124273856 124273856 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:124273856C>T ENST00000368984.3 + 9 1552 c.1424C>T c.(1423-1425)cCc>cTc p.P475L NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 475 proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) ACAGTGATTCCCGAAGAAATT 0.507000 14 55 0 0 0.000422831 0 0 TOMM40L 84134 broad.mit.edu 37 1 161198560 161198560 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:161198560C>T ENST00000367988.3 + 9 1009 c.740C>T c.(739-741)tCc>tTc p.S247F TOMM40L_ENST00000545897.1_Missense_Mutation_p.S213F|TOMM40L_ENST00000367987.1_Missense_Mutation_p.S247F|TOMM40L_ENST00000474486.1_3'UTR NM_032174.4 NP_115550.2 Q969M1 TM40L_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast)-like 247 protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(2)|liver(4)|lung(4) 10 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) ACAACATTCTCCTTTGGTTAC 0.493000 9 36 0 0 0.000978159 0 0 NBPF1 55672 broad.mit.edu 37 1 16895719 16895719 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:16895719C>T ENST00000430580.2 - 23 3350 c.2463G>A c.(2461-2463)gaG>gaA p.E821E NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 821 NBPF 4.|Poly-Glu. 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) CCTCTTCAGACTCCTGCAGAT 0.488000 11 163 0 0 0.000151284 0 0 RFX6 222546 broad.mit.edu 37 6 117248363 117248363 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:117248363C>T ENST00000332958.2 + 17 2075 c.2059C>T c.(2059-2061)Ccc>Tcc p.P687S NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 687 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GCCCATTTATCCCACTCTCCC 0.522000 23 27 0 0 0.000295444 0 0 OR4D9 390199 broad.mit.edu 37 11 59283084 59283084 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:59283084G>A ENST00000329328.3 + 1 699 c.699G>A c.(697-699)agG>agA p.R233R NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 GGGAAGGCAGGAGGAAAGCCA 0.512000 65 92 0 0 0.000781405 0 0 TNN 63923 broad.mit.edu 37 1 175066699 175066699 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:175066699G>A ENST00000239462.4 + 8 1848 c.1735G>A c.(1735-1737)Ggg>Agg p.G579R NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 579 Fibronectin type-III 4. 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) GGTTCTGGTGGGGAAGGAGCA 0.607000 11 34 0 0 0.000151284 0 0 DUOXA1 90527 broad.mit.edu 37 15 45413409 45413409 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:45413409G>A ENST00000267803.4 - 6 615 c.216C>T c.(214-216)ttC>ttT p.F72F DUOXA1_ENST00000558996.1_Intron|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000558422.1_Intron|DUOXA1_ENST00000559014.1_Silent_p.F72F|DUOXA1_ENST00000560572.1_Silent_p.F72F NM_144565.2 NP_653166.2 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 72 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) ACTCAGAACTGAAATTCACAG 0.512000 12 23 0 0 0.000151284 0 0 DIDO1 11083 broad.mit.edu 37 20 61511949 61511949 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:61511949C>T ENST00000266070.4 - 16 5684 c.5359G>A c.(5359-5361)Gct>Act p.A1787T DIDO1_ENST00000395343.1_Missense_Mutation_p.A1787T NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1787 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCGTTAGAAGCGATATTCTCT 0.617000 15 173 0 0 0.000566183 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228829 57228829 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:57228829C>T ENST00000396721.2 - 2 208 c.78G>A c.(76-78)atG>atA p.M26I SDR16C5_ENST00000303749.3_Missense_Mutation_p.M26I|SDR16C5_ENST00000522671.1_Missense_Mutation_p.M26I Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 26 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 AGGCAAAAATCATAGCCTCCA 0.448000 22 32 0 0 0.000295444 0 0 ZNF33A 7581 broad.mit.edu 37 10 38345158 38345158 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:38345158C>T ENST00000374618.3 + 5 2284 c.2106C>T c.(2104-2106)ttC>ttT p.F702F ZNF33A_ENST00000307441.9_Silent_p.F701F|ZNF33A_ENST00000432900.2_Silent_p.F708F|ZNF33A_ENST00000458705.2_Silent_p.F701F|ZNF33A_ENST00000469037.2_Intron NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 701 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 GGAAATTCTTCAGGCACAAAT 0.393000 25 18 0 0 0.00047179 0 0 C6orf15 29113 broad.mit.edu 37 6 31079351 31079351 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:31079351C>T ENST00000259870.3 - 2 788 c.785G>A c.(784-786)gGa>gAa p.G262E NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 262 Gly-rich. endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 ATTAATATTTCCCCAGCTGCC 0.502000 7 102 0 0 0.000157383 0 0 KIF1C 10749 broad.mit.edu 37 17 4923933 4923933 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:4923933G>A ENST00000320785.5 + 20 2254 c.1897G>A c.(1897-1899)Gag>Aag p.E633K KIF1C_ENST00000573815.1_3'UTR NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 633 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 GGAACTGCTGGAGCAGCAAGG 0.652000 22 8 0 0 0.000229342 0 0 HDAC7 51564 broad.mit.edu 37 12 48189006 48189006 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:48189006G>A ENST00000080059.7 - 11 1244 c.1245C>T c.(1243-1245)ccC>ccT p.P415P HDAC7_ENST00000354334.3_Silent_p.P378P|HDAC7_ENST00000380610.4_Silent_p.P432P|HDAC7_ENST00000427332.2_Silent_p.P376P|HDAC7_ENST00000552960.1_Silent_p.P398P NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 376 Transcription repression 2 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) GCTCCAGGCGGGGCTGCATGG 0.647000 37 56 0 0 0.000509022 0 0 NFKBIB 4793 broad.mit.edu 37 19 39396030 39396030 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:39396030C>T ENST00000392079.3 + 3 476 c.378C>T c.(376-378)ccC>ccT p.P126P NFKBIB_ENST00000313582.5_Silent_p.P158P|NFKBIB_ENST00000572515.1_Silent_p.P158P Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 158 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GGGAAGCCCCCGACACCTACC 0.687000 4 13 0 0 0.00024832 0 0 SLC24A3 57419 broad.mit.edu 37 20 19261652 19261652 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:19261652G>A ENST00000328041.6 + 2 389 c.192G>A c.(190-192)gcG>gcA p.A64A RP5-1027G4.3_ENST00000319682.2_RNA NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 64 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GGATGATGGCGAGGAAGCTGA 0.522000 31 8 0 0 0.000339439 0 0 NAV1 89796 broad.mit.edu 37 1 201750396 201750396 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:201750396C>T ENST00000367296.4 + 5 2042 c.1622C>T c.(1621-1623)tCc>tTc p.S541F NAV1_ENST00000295624.6_Missense_Mutation_p.S541F|NAV1_ENST00000367300.3_Missense_Mutation_p.S541F|NAV1_ENST00000367302.1_Missense_Mutation_p.S554F|NAV1_ENST00000367297.4_Missense_Mutation_p.S541F|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.S150F NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 541 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GCTGTAACTTCCCCCATCACT 0.537000 5 24 0 0 0.000602214 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967311 41967311 + Missense_Mutation SNP C C G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:41967311C>G ENST00000298919.7 + 10 2338 c.1950C>G c.(1948-1950)atC>atG p.I650M PDZRN4_ENST00000402685.2_Missense_Mutation_p.I910M|PDZRN4_ENST00000539469.2_Missense_Mutation_p.I652M Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 910 S -> G (in Ref. 1 and 2; BAD18688). ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GAGACCGAATCCTGAAGGAAC 0.517000 19 29 0 0 0.00074312 0 0 CNTN2 6900 broad.mit.edu 37 1 205033866 205033866 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:205033866C>T ENST00000331830.4 + 12 1791 c.1507C>T c.(1507-1509)Cta>Tta p.L503L NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 503 Ig-like C2-type 5. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CACTGGAATCCTATCTGTGCG 0.547000 19 94 0 0 0.000175454 0 0 PHACTR3 116154 broad.mit.edu 37 20 58381145 58381145 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:58381145G>A ENST00000371015.1 + 8 1691 c.1224G>A c.(1222-1224)agG>agA p.R408R PHACTR3_ENST00000395639.4_Silent_p.R297R|PHACTR3_ENST00000361300.4_Silent_p.R297R|PHACTR3_ENST00000355648.4_Silent_p.R367R|PHACTR3_ENST00000359926.3_Silent_p.R405R|PHACTR3_ENST00000541461.1_Silent_p.R367R|PHACTR3_ENST00000395636.2_Silent_p.R367R NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 408 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) TGAAGCTAAGGAACCGGCCAA 0.517000 136 115 0 0 0.000781405 0 0 C6 729 broad.mit.edu 37 5 41181509 41181509 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:41181509G>A ENST00000263413.3 - 7 1143 c.879C>T c.(877-879)atC>atT p.I293I C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.I293I NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 293 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.I293I(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AATTATGGTTGATATTTTCAC 0.358000 25 82 0 0 0.000878237 0 0 ABCC11 85320 broad.mit.edu 37 16 48227838 48227838 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:48227838C>T ENST00000394747.1 - 18 2809 c.2460G>A c.(2458-2460)acG>acA p.T820T ABCC11_ENST00000394748.1_Silent_p.T820T|ABCC11_ENST00000353782.5_Silent_p.T820T|ABCC11_ENST00000356608.2_Silent_p.T820T|ABCC11_ENST00000537808.1_3'UTR NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 820 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AGCTGAAGATCGTTAAGAAGA 0.527000 32 8 0 0 0.000953801 0 0 RELN 5649 broad.mit.edu 37 7 103175777 103175777 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:103175777G>A ENST00000424685.2 - 46 7494 c.7335C>T c.(7333-7335)ctC>ctT p.L2445L RELN_ENST00000428762.1_Silent_p.L2445L|RELN_ENST00000343529.5_Silent_p.L2445L P78509 RELN_HUMAN reelin 2445 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TATAAGGAGGGAGAGGCAGAG 0.453000 9 18 0 0 0.000978159 0 0 SDK1 221935 broad.mit.edu 37 7 3990576 3990576 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:3990576C>T ENST00000404826.2 + 6 1008 c.869C>T c.(868-870)aCc>aTc p.T290I SDK1_ENST00000389531.3_Missense_Mutation_p.T290I NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 290 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) ACACCTGAAACCATGGCCCCA 0.552000 13 35 0 0 0.000422831 0 0 MYO3B 140469 broad.mit.edu 37 2 171256757 171256757 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:171256757C>T ENST00000334231.6 + 17 1878 c.1878C>T c.(1876-1878)ttC>ttT p.F626F MYO3B_ENST00000408978.4_Silent_p.F617F|MYO3B_ENST00000409044.3_Silent_p.F617F|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 617 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 ACATTGAGTTCGCAGCTATTT 0.403000 63 72 0 0 0.000781405 0 0 ABCB5 340273 broad.mit.edu 37 7 20683155 20683155 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:20683155C>T ENST00000404938.2 + 7 1230 c.578C>T c.(577-579)tCg>tTg p.S193L NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 379 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.S193L(1)|p.S193*(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TCTACTTTTTCGATTGGCCTG 0.423000 61 114 0 0 0.000781405 0 0 CLCA2 9635 broad.mit.edu 37 1 86905984 86905984 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:86905984C>T ENST00000370565.4 + 8 1519 c.1357C>T c.(1357-1359)Ctg>Ttg p.L453L NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 453 VWFA. cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity p.L453M(1) NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) AGCCCCAAATCTGGAGGAATT 0.423000 38 22 0 0 0.000270559 0 0 KRT2 3849 broad.mit.edu 37 12 53045889 53045889 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:53045889C>T ENST00000309680.3 - 1 59 c.38G>A c.(37-39)gGa>gAa p.G13E NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 13 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) tccacctcctcctcttcctcG 0.552000 3 8 0 0 0.00024832 0 0 DMBT1 1755 broad.mit.edu 37 10 124395627 124395627 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:124395627C>T ENST00000368909.3 + 50 6388 c.6282C>T c.(6280-6282)ttC>ttT p.F2094F DMBT1_ENST00000338354.3_Silent_p.F2094F|DMBT1_ENST00000368955.3_Silent_p.F2084F|DMBT1_ENST00000344338.3_Silent_p.F2084F|DMBT1_ENST00000330163.4_Silent_p.F1466F|DMBT1_ENST00000359586.6_Silent_p.F814F|DMBT1_ENST00000368956.2_Silent_p.F1466F NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2094 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCTCCAACTTCATGTCCATTC 0.512000 18 17 0 0 0.000566183 0 0 INHBA 3624 broad.mit.edu 37 7 41730107 41730107 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:41730107G>A ENST00000242208.4 - 3 668 c.422C>T c.(421-423)tCc>tTc p.S141F INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.S141F|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 141 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GCCTTCCTTGGAAATCTCGAA 0.507000 TSP Lung(11;0.080) 15 28 0 0 0.000219431 0 0 FN1 2335 broad.mit.edu 37 2 216289995 216289995 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:216289995G>A ENST00000354785.4 - 7 1227 c.858C>T c.(856-858)ttC>ttT p.F286F FN1_ENST00000421182.1_Silent_p.F286F|FN1_ENST00000359671.1_Silent_p.F286F|FN1_ENST00000357867.4_Silent_p.F286F|FN1_ENST00000357009.2_Silent_p.F286F|FN1_ENST00000356005.4_Silent_p.F286F|FN1_ENST00000345488.5_Silent_p.F286F|FN1_ENST00000336916.4_Silent_p.F286F|FN1_ENST00000323926.6_Silent_p.F286F|FN1_ENST00000346544.3_Silent_p.F286F|FN1_ENST00000426059.1_Silent_p.F286F|FN1_ENST00000446046.1_Silent_p.F286F|FN1_ENST00000443816.1_Silent_p.F286F|FN1_ENST00000432072.2_Silent_p.F286F P02751 FINC_HUMAN fibronectin 1 286 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAACATCGGTGAAGGGGCCAG 0.522000 139 48 0 0 0.000781405 0 0 NBEA 26960 broad.mit.edu 37 13 35733681 35733681 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr13:35733681G>A ENST00000400445.3 + 22 3907 c.3373G>A c.(3373-3375)Gat>Aat p.D1125N NBEA_ENST00000310336.4_Missense_Mutation_p.D1125N|NBEA_ENST00000379939.2_Missense_Mutation_p.D1125N|NBEA_ENST00000540320.1_Missense_Mutation_p.D1125N NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 1125 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGAAGAAAAGGATAATGGTCC 0.343000 10 6 0 0 0.000978159 0 0 DDX18 8886 broad.mit.edu 37 2 118575276 118575276 + Missense_Mutation SNP G G C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:118575276G>C ENST00000263239.2 + 2 470 c.342G>C c.(340-342)aaG>aaC p.K114N DDX18_ENST00000474694.1_3'UTR NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 114 Poly-Lys. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGAAGAAAAAGAGAAAAATGG 0.348000 27 87 0 0 0.000878237 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763784 110763784 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:110763784G>A ENST00000368919.3 - 4 912 c.846C>T c.(844-846)atC>atT p.I282I SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Silent_p.I282I|SLC22A16_ENST00000330550.4_Silent_p.I248I NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 282 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) AACAGCACAGGATAAAGGGGA 0.488000 22 25 0 0 0.000375601 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057641 46057641 + Missense_Mutation SNP G G A rs68027322 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr21:46057641G>A ENST00000380095.1 + 1 369 c.307G>A c.(307-309)Gtc>Atc p.V103I TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 103 15 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 ctgtgtgcccgtctgctgcgt 0.622000 40 41 0 0 0.000319135 0 0 DDX39B 7919 broad.mit.edu 37 6 31500583 31500583 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:31500583G>A ENST00000417556.2 - 8 1516 c.886C>T c.(886-888)Ctt>Ttt p.L296F DDX39B_ENST00000415382.2_Missense_Mutation_p.L203F|DDX39B_ENST00000376177.2_Missense_Mutation_p.L281F|DDX39B_ENST00000458640.1_Missense_Mutation_p.L281F|DDX39B_ENST00000396172.1_Missense_Mutation_p.L281F|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 281 Helicase C-terminal. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 ACATCCAGAAGGTCAAAGAGC 0.493000 25 65 0 0 0.000586117 0 0 DNAH10 196385 broad.mit.edu 37 12 124330680 124330680 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:124330680G>A ENST00000409039.3 + 31 5464 c.5439G>A c.(5437-5439)cgG>cgA p.R1813R NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1813 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCACCGATCGGATTTACCTGA 0.582000 7 23 0 0 0.000157383 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200817884 200817884 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:200817884C>T ENST00000358823.2 + 11 2257 c.1987C>T c.(1987-1989)Cct>Tct p.P663S CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P647S|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.P674S NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 674 cytoplasm|microtubule protein binding AGCTTTGAGTCCTTGTCCAAG 0.418000 45 20 0 0 0.000680045 0 0 NPTXR 23467 broad.mit.edu 37 22 39219117 39219117 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:39219117G>A ENST00000333039.2 - 4 1372 c.1249C>T c.(1249-1251)Cat>Tat p.H417Y NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 417 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) AGGATCCCATGAGGCTTGATG 0.602000 28 70 0 0 0.000692331 0 0 SLC6A3 6531 broad.mit.edu 37 5 1441597 1441597 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:1441597G>A ENST00000270349.9 - 3 422 c.295C>T c.(295-297)Ctg>Ttg p.L99L SLC6A3_ENST00000453492.2_Silent_p.L99L NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 99 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TAGGGGACCAGGAAGGCACCT 0.602000 20 35 0 0 0.000375601 0 0 APCS 325 broad.mit.edu 37 1 159557901 159557901 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:159557901G>A ENST00000255040.2 + 2 172 c.75G>A c.(73-75)ggG>ggA p.G25G NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 25 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) ACCTCAGTGGGAAGGTGTTTG 0.393000 43 21 0 0 0.000374591 0 0 NPHS1 4868 broad.mit.edu 37 19 36334398 36334398 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:36334398C>T ENST00000378910.5 - 17 2309 c.2310G>A c.(2308-2310)ccG>ccA p.P770P NPHS1_ENST00000353632.6_Silent_p.P770P NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 770 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGAACATGCCCGGGAGGATGG 0.572000 46 45 0 0 0.000781405 0 0 C1orf65 164127 broad.mit.edu 37 1 223568233 223568233 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:223568233C>T ENST00000366875.3 + 1 1519 c.1416C>T c.(1414-1416)cgC>cgT p.R472R NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 472 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) AGCGGCAACGCGAGCTGAGGG 0.607000 9 21 0 0 0.000442599 0 0 VCP 7415 broad.mit.edu 37 9 35061054 35061054 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:35061054G>A ENST00000358901.6 - 11 2212 c.1317C>T c.(1315-1317)gcC>gcT p.A439A NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 439 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding p.A439A(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TCATGACCTCGGCATCAATGG 0.527000 36 116 0 0 0.000228196 0 0 PI4KA 5297 broad.mit.edu 37 22 21088363 21088363 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:21088363G>A ENST00000255882.6 - 34 4106 c.4020C>T c.(4018-4020)aaC>aaT p.N1340N PI4KA_ENST00000414196.3_Silent_p.N92N|PI4KA_ENST00000572273.1_Silent_p.N1282N NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1282 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCACGTGCCGGTTCATGCTCC 0.632000 11 12 0 0 0.00010058 0 0 MYB 4602 broad.mit.edu 37 6 135521533 135521533 + Missense_Mutation SNP C C A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:135521533C>A ENST00000341911.5 + 13 2129 c.1930C>A c.(1930-1932)Ctg>Atg p.L644M MYB_ENST00000533624.1_Missense_Mutation_p.L488M|MYB_ENST00000528774.1_Missense_Mutation_p.L641M|MYB_ENST00000442647.2_Missense_Mutation_p.L520M|MYB_ENST00000525369.1_Missense_Mutation_p.L438M|MYB_ENST00000316528.8_Missense_Mutation_p.L523M|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000367814.4_Missense_Mutation_p.L523M|MYB_ENST00000527615.1_Missense_Mutation_p.L523M|MYB_ENST00000534121.1_Missense_Mutation_p.L628M|MYB_ENST00000534044.1_Missense_Mutation_p.L523M NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 538 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) ACCACCCTTACTGAAGAAAAT 0.443000 T NFIB adenoid cystic carcinoma 18 35 2.35188e-11 3.12258e-10 0.00074312 1 0 IFITM3 10410 broad.mit.edu 37 11 320742 320742 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:320742C>T ENST00000399808.4 - 1 308 c.72G>A c.(70-72)aaG>aaA p.K24K IFITM3_ENST00000602735.1_Silent_p.K3K|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Silent_p.K3K|RP11-326C3.11_ENST00000602429.1_RNA NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 24 response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CGTGCTCCTCCTTGAGCATCT 0.632000 52 63 0 0 0.000781405 0 0 FAIM3 9214 broad.mit.edu 37 1 207087397 207087397 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:207087397C>T ENST00000367091.3 - 2 223 c.80G>A c.(79-81)gGg>gAg p.G27E FAIM3_ENST00000420007.2_Missense_Mutation_p.G27E|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron NM_005449.4 NP_005440.1 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 27 anti-apoptosis|cellular defense response integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(84;0.201) GCCCAGCTCCCCCTCTACCTT 0.547000 51 26 0 0 0.000781405 0 0 PIF1 80119 broad.mit.edu 37 15 65108888 65108888 + Missense_Mutation SNP C C G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:65108888C>G ENST00000268043.4 - 12 1845 c.1751G>C c.(1750-1752)cGg>cCg p.R584P PIF1_ENST00000559239.1_Missense_Mutation_p.R584P|PIF1_ENST00000333425.6_Missense_Mutation_p.R584P Q9H611 PIF1_HUMAN PIF1 5'-to-3' DNA helicase 584 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 GCTGCGGGCCCGAGAAAGGGC 0.642000 13 56 0 0 0.000151284 0 0 APCS 325 broad.mit.edu 37 1 159558413 159558413 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:159558413C>T ENST00000255040.2 + 2 684 c.587C>T c.(586-588)cCt>cTt p.P196L NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 196 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) CAGGGTACCCCTCTCCCTGCC 0.502000 19 14 0 0 0.000175454 0 0 VPS53 55275 broad.mit.edu 37 17 440338 440338 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:440338C>T ENST00000437048.2 - 18 2091 c.1945G>A c.(1945-1947)Gtc>Atc p.V649I VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Missense_Mutation_p.V372I|VPS53_ENST00000291074.5_Missense_Mutation_p.V620I|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000571805.1_Missense_Mutation_p.V649I|VPS53_ENST00000446250.2_Missense_Mutation_p.V451I|RP5-1029F21.4_ENST00000570974.1_RNA NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 649 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) ATGATGGGGACGTTCTGCTTG 0.527000 13 12 0 0 0.000219431 0 0 TMC5 79838 broad.mit.edu 37 16 19455460 19455460 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:19455460C>T ENST00000396229.2 + 4 1595 c.846C>T c.(844-846)ccC>ccT p.P282P TMC5_ENST00000381414.4_Silent_p.P282P|TMC5_ENST00000542583.2_Silent_p.P282P|TMC5_ENST00000541464.1_Silent_p.P282P NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 282 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTGATGACCCCGTGGGCAGTC 0.488000 43 45 0 0 0.000589545 0 0 HHATL 57467 broad.mit.edu 37 3 42735116 42735116 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:42735116C>T ENST00000441594.1 - 10 1502 c.1241G>A c.(1240-1242)cGa>cAa p.R414Q HHATL_ENST00000310417.5_Missense_Mutation_p.R414Q NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 414 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) CACCTCAATTCGTGCTAGGGG 0.577000 10 10 0 0 0.00010058 0 0 CXorf48 54967 broad.mit.edu 37 X 134292130 134292130 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:134292130C>T ENST00000344129.2 - 4 757 c.531G>A c.(529-531)acG>acA p.T177T CXorf48_ENST00000276241.6_Silent_p.T177T NM_017863.2 NP_060333.1 Q8WUE5 CX048_HUMAN chromosome X open reading frame 48 177 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) TTACCTCTTCCGTATGAATAC 0.433000 17 7 0 0 0.000566183 0 0 ALMS1 7840 broad.mit.edu 37 2 73677148 73677148 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:73677148C>T ENST00000264448.6 + 8 3602 c.3491C>T c.(3490-3492)cCt>cTt p.P1164L ALMS1_ENST00000409009.1_Missense_Mutation_p.P1122L|ALMS1_ENST00000377715.1_Missense_Mutation_p.P1164L NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1164 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACTCATATACCTGAAGAGGCT 0.458000 113 53 0 0 0.000781405 0 0 NANOG 79923 broad.mit.edu 37 12 7947353 7947353 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:7947353C>T ENST00000229307.4 + 4 799 c.580C>T c.(580-582)Cca>Tca p.P194S NANOG_ENST00000526286.1_Missense_Mutation_p.P178S NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 194 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) TGGGAACCTTCCAATGTGGAG 0.542000 20 5 0 0 0.000295444 0 0 LRRC56 115399 broad.mit.edu 37 11 541582 541582 + Nonsense_Mutation SNP G G T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:541582G>T ENST00000270115.7 + 5 723 c.223G>T c.(223-225)Gag>Tag p.E75* NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 75 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAGGACGCTGGAGATGTGTGT 0.642000 19 31 3.10358e-05 0.000406089 0.000295444 1 0 DNAH17 8632 broad.mit.edu 37 17 76458971 76458971 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:76458971C>T ENST00000389840.5 - 57 9211 c.9087G>A c.(9085-9087)gaG>gaA p.E3029E DNAH17_ENST00000585328.1_Silent_p.E3038E|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCTCCAGCCTCTCGATTTTGG 0.582000 22 75 0 0 0.000375601 0 0 TBC1D1 23216 broad.mit.edu 37 4 38091574 38091574 + Missense_Mutation SNP T T A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:38091574T>A ENST00000261439.4 + 13 2427 c.2072T>A c.(2071-2073)cTt>cAt p.L691H TBC1D1_ENST00000508802.1_Missense_Mutation_p.L785H NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 691 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CTGGGAGAGCTTCCCCCACGA 0.473000 93 20 0 0 0.000781405 0 0 IQGAP2 10788 broad.mit.edu 37 5 76003063 76003063 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:76003063G>A ENST00000274364.6 + 36 4950 c.4653G>A c.(4651-4653)atG>atA p.M1551I IQGAP2_ENST00000502745.1_Missense_Mutation_p.M1047I|IQGAP2_ENST00000379730.3_Missense_Mutation_p.M1053I|IQGAP2_ENST00000396234.3_Missense_Mutation_p.M1047I|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000508410.1_3'UTR NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1551 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TAGCTGTAATGAAAATGTTTG 0.308000 7 30 0 0 0.000157383 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562580 140562580 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:140562580G>A ENST00000361016.2 + 1 1601 c.446G>A c.(445-447)gGa>gAa p.G149E NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 149 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTCCTCTAGGAACTGAGTTC 0.393000 31 19 0 0 0.000339439 0 0 SIPA1 6494 broad.mit.edu 37 11 65417243 65417243 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:65417243C>T ENST00000394224.3 + 12 2949 c.2653C>T c.(2653-2655)Ccc>Tcc p.P885S SIPA1_ENST00000394227.3_Missense_Mutation_p.P783S|SIPA1_ENST00000534313.1_Missense_Mutation_p.P885S|SIPA1_ENST00000527525.1_Missense_Mutation_p.P783S NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 885 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 GCCAGGCAGTCCCAGTGGCTC 0.602000 17 36 0 0 0.000566183 0 0 PEAK1 79834 broad.mit.edu 37 15 77425888 77425888 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:77425888C>T ENST00000560626.2 - 6 4011 c.3536G>A c.(3535-3537)aGt>aAt p.S1179N PEAK1_ENST00000312493.4_Missense_Mutation_p.S1179N Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1179 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GACACAAAGACTACTTTCCAT 0.473000 19 126 0 0 0.000958276 0 0 KSR2 283455 broad.mit.edu 37 12 118293345 118293345 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:118293345C>T ENST00000425217.1 - 3 327 c.273G>A c.(271-273)ttG>ttA p.L91L KSR2_ENST00000339824.5_Silent_p.L120L NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 120 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCGTCATCTCCAAGAGGTCCT 0.607000 24 23 0 0 0.00047179 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141661 133141661 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:133141661C>T ENST00000388996.4 - 15 2887 c.2467G>A c.(2467-2469)Ggg>Agg p.G823R KCNQ3_ENST00000519445.1_Missense_Mutation_p.G811R|KCNQ3_ENST00000521134.1_Missense_Mutation_p.G703R NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 823 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CAGCTCGACCCCCCATTGGGG 0.612000 19 29 0 0 0.000132079 0 0 KIAA1244 57221 broad.mit.edu 37 6 138628449 138628449 + Nonsense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:138628449G>A ENST00000251691.4 + 23 4054 c.3888G>A c.(3886-3888)tgG>tgA p.W1296* NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1296 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGTCGGGATGGAGACCCTTGT 0.512000 40 71 0 0 0.000228196 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764305 138764305 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:138764305C>T ENST00000242351.5 - 4 1698 c.1382G>A c.(1381-1383)aGg>aAg p.R461K ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.R461K|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.R461K NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 461 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 ATCCTGAATCCTAGGTGATGA 0.438000 32 81 0 0 0.000339439 0 0 EDIL3 10085 broad.mit.edu 37 5 83433158 83433158 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:83433158C>T ENST00000296591.5 - 5 788 c.370G>A c.(370-372)Gaa>Aaa p.E124K EDIL3_ENST00000380138.3_Missense_Mutation_p.E114K NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 124 EGF-like 3. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GGCTCAACTTCGCATTCATTT 0.333000 23 39 0 0 0.000229342 0 0 KIF12 113220 broad.mit.edu 37 9 116857517 116857517 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:116857517C>T ENST00000374118.3 - 7 814 c.577G>A c.(577-579)Gga>Aga p.G193R KIF12_ENST00000473174.1_5'UTR NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 326 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 CCGCGCCCTCCCAGTGAGTCT 0.642000 31 13 0 0 0.00111076 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039779 2039779 + Silent SNP G G A rs113070757 byFrequency TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:2039779G>A ENST00000382203.1 + 4 878 c.669G>A c.(667-669)caG>caA p.Q223Q SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Silent_p.Q223Q P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 223 Poly-Gln. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) agcagcaacagcagcagcagc 0.642000 3 13 0 0 6.4e-05 0 0 PDIA3 2923 broad.mit.edu 37 15 44053692 44053692 + Silent SNP T T C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:44053692T>C ENST00000300289.5 + 4 583 c.435T>C c.(433-435)ttT>ttC p.F145F PDIA3_ENST00000538521.1_Silent_p.F125F NM_005313.4 NP_005304.3 P30101 PDIA3_HUMAN protein disulfide isomerase family A, member 3 145 cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) AGGAAGAATTTAAGAAATTCA 0.393000 19 65 0 0 0.000175454 0 0 MED12L 116931 broad.mit.edu 37 3 151075068 151075068 + Missense_Mutation SNP A A C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:151075068A>C ENST00000474524.1 + 18 2662 c.2624A>C c.(2623-2625)tAt>tCt p.Y875S P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.Y735S NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 875 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGGAAGTTATACAACAGGA 0.448000 11 41 0 0 0.000978159 0 0 ULK4 54986 broad.mit.edu 37 3 41957541 41957541 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:41957541G>A ENST00000301831.4 - 8 1193 c.731C>T c.(730-732)tCt>tTt p.S244F ULK4_ENST00000420927.1_Missense_Mutation_p.S244F NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 244 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) AGGACGAGAAGAATCTATAAA 0.274000 35 62 0 0 0.000814825 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164156 150164156 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:150164156G>A ENST00000307271.3 + 2 944 c.370G>A c.(370-372)Gaa>Aaa p.E124K NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 124 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GTTTGGAGCTGAAGCCAGGAG 0.478000 23 30 0 0 0.000295444 0 0 DNAH1 25981 broad.mit.edu 37 3 52433701 52433701 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:52433701G>A ENST00000420323.2 + 77 12843 c.12582G>A c.(12580-12582)gaG>gaA p.E4194E NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 4259 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGTACACAGAGATGGCCGTTA 0.552000 28 48 0 0 0.000878237 0 0 IGLV3-21 28796 broad.mit.edu 37 22 23055665 23055665 + RNA SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:23055665G>A ENST00000390308.2 + 0 579 TCAGGTGTGGGATAGTAGTAG 0.587000 9 26 0 0 0.000978159 0 0 IGFN1 91156 broad.mit.edu 37 1 201196074 201196074 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:201196074G>A ENST00000335211.4 + 23 10981 c.10851G>A c.(10849-10851)ctG>ctA p.L3617L IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCCGGTTCCTGGTGGGCCTGC 0.662000 58 28 0 0 0.000781405 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204412635 204412635 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:204412635C>T ENST00000367187.3 - 20 3514 c.2958G>A c.(2956-2958)ctG>ctA p.L986L PIK3C2B_ENST00000424712.2_Silent_p.L958L NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 986 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) ACTCTTCTCTCAGCCCCTTGC 0.592000 71 55 0 0 0.000781405 0 0 ZFP90 146198 broad.mit.edu 37 16 68597607 68597607 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:68597607G>A ENST00000570495.1 + 5 1209 c.917G>A c.(916-918)gGa>gAa p.G306E ZFP90_ENST00000563169.2_Missense_Mutation_p.G306E|ZFP90_ENST00000398253.2_Missense_Mutation_p.G306E|RP11-615I2.7_ENST00000571720.1_RNA Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 306 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) GCTCATACCGGAGAGAAACCC 0.493000 15 20 0 0 0.000132079 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139544 142139544 + RNA SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:142139544G>A ENST00000390374.3 - 0 125 CTTTGTACCTGGGAGACTGGG 0.493000 13 36 0 0 0.000219431 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 42 0 0 0.00024832 0 0 MED23 9439 broad.mit.edu 37 6 131912565 131912565 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:131912565C>T ENST00000403834.3 - 26 3765 c.3592G>A c.(3592-3594)Gat>Aat p.D1198N MED23_ENST00000368060.3_Missense_Mutation_p.D1192N|MED23_ENST00000354577.4_Missense_Mutation_p.D1198N|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000545957.1_Missense_Mutation_p.D833N|MED23_ENST00000368068.3_Missense_Mutation_p.D1192N|MED23_ENST00000368058.1_Missense_Mutation_p.D1198N Q9ULK4 MED23_HUMAN mediator complex subunit 23 1192 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity p.D1198Y(1)|p.D1192Y(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GCAGTGAAATCAAAGAGGCGG 0.473000 10 39 0 0 0.000673444 0 0 DENND3 22898 broad.mit.edu 37 8 142146806 142146806 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:142146806G>A ENST00000519811.1 + 2 371 c.301G>A c.(301-303)Ggg>Agg p.G101R DENND3_ENST00000262585.2_Missense_Mutation_p.G21R|DENND3_ENST00000424248.1_Missense_Mutation_p.G21R|DENND3_ENST00000518347.1_Missense_Mutation_p.G101R A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 21 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GGGCCTCCCGGGGCCCCCCAG 0.652000 4 9 0 0 8.12818e-05 0 0 DCLK3 85443 broad.mit.edu 37 3 36779958 36779958 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:36779958C>T ENST00000416516.2 - 2 683 c.193G>A c.(193-195)Gaa>Aaa p.E65K NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 65 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 CCTGCAACTTCGCTGCAGCTC 0.612000 63 60 0 0 0.000781405 0 0 LINC00610 399879 broad.mit.edu 37 11 36293339 36293339 + RNA SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:36293339G>A ENST00000355500.1 - 0 232 GGTGTGGCAGGAAGATGGACC 0.532000 41 68 0 0 0.000781405 0 0 TWIST1 7291 broad.mit.edu 37 7 19156395 19156395 + Missense_Mutation SNP T T C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:19156395T>C ENST00000242261.5 - 1 900 c.550A>G c.(550-552)Agc>Ggc p.S184G NM_000474.3 NP_000465.1 Q15672 TWST1_HUMAN twist family bHLH transcription factor 1 184 Sufficient for transactivation activity (By similarity). aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 AAGGCGTAGCTGAGCCGCTCG 0.657000 6 15 0 0 8.12818e-05 0 0 ARMC4 55130 broad.mit.edu 37 10 28101489 28101489 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:28101489G>A ENST00000545014.1 - 14 2130 c.1784C>T c.(1783-1785)cCa>cTa p.P595L ARMC4_ENST00000537576.1_Intron|ARMC4_ENST00000305242.5_Silent_p.S1029S Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 0 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TGCGGATATTGGATATACAAC 0.458000 16 88 0 0 0.000566183 0 0 ZPLD1 131368 broad.mit.edu 37 3 102176642 102176642 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:102176642C>T ENST00000306176.1 + 5 675 c.575C>T c.(574-576)tCt>tTt p.S192F ZPLD1_ENST00000491959.1_Missense_Mutation_p.S176F|ZPLD1_ENST00000466937.1_Missense_Mutation_p.S176F NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 176 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 GCGGCTATTTCTGTGAGAGAG 0.373000 58 74 0 0 0.000781405 0 0 SLC25A42 284439 broad.mit.edu 37 19 19206977 19206977 + Missense_Mutation SNP A A C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:19206977A>C ENST00000318596.7 + 2 195 c.44A>C c.(43-45)gAt>gCt p.D15A NM_178526.4 NP_848621.2 Q86VD7 S2542_HUMAN solute carrier family 25, member 42 15 transmembrane transport integral to membrane|mitochondrial inner membrane binding cervix(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) TTGCATGAGGATGCTGAGGCT 0.642000 9 13 0 0 0.000978159 0 0 LRCH2 57631 broad.mit.edu 37 X 114357343 114357343 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:114357343G>A ENST00000317135.8 - 19 2110 c.2080C>T c.(2080-2082)Cat>Tat p.H694Y LRCH2_ENST00000538422.1_Missense_Mutation_p.H677Y NM_020871.3 NP_065922.3 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 2 694 CH. breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 GATGGTACATGAATACTAGCA 0.358000 26 6 0 0 0.000184323 0 0 NUP37 79023 broad.mit.edu 37 12 102468181 102468181 + Missense_Mutation SNP C C G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:102468181C>G ENST00000552283.1 - 10 1071 c.932G>C c.(931-933)tGt>tCt p.C311S RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Missense_Mutation_p.C311S Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 311 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 TCCAATTACACACAGAGGGAG 0.393000 3 19 0 0 6.4e-05 0 0 SDK2 54549 broad.mit.edu 37 17 71386490 71386490 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:71386490C>T ENST00000392650.3 - 29 4128 c.4128G>A c.(4126-4128)acG>acA p.T1376T SDK2_ENST00000388726.3_Silent_p.T1376T NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1376 Fibronectin type-III 8. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GGGTCTGGGCCGTGATGCGGA 0.682000 8 11 0 0 0.000157383 0 0 CCDC71 64925 broad.mit.edu 37 3 49200991 49200991 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:49200991C>T ENST00000321895.6 - 2 757 c.651G>A c.(649-651)ggG>ggA p.G217G NM_022903.3 NP_075054.3 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 217 endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCGGACCCTTCCCTGAACTTT 0.592000 44 63 0 0 0.000781405 0 0 C2orf78 388960 broad.mit.edu 37 2 74041260 74041260 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:74041260G>A ENST00000409561.1 + 2 875 c.754G>A c.(754-756)Gag>Aag p.E252K NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 252 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 GGTGCTGAAGGAGGTTCAGCC 0.483000 16 93 0 0 0.000308642 0 0 SLC24A4 123041 broad.mit.edu 37 14 92911661 92911661 + Splice_Site SNP T T C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:92911661T>C ENST00000532405.1 + 8 884 c.657_splice c.e8-1 p.F220_splice SLC24A4_ENST00000298877.1_Splice_Site_p.F203_splice|SLC24A4_ENST00000351924.5_Splice_Site_p.F203_splice|SLC24A4_ENST00000393265.2_Splice_Site_p.F156_splice|SLC24A4_ENST00000531433.1_Splice_Site_p.F220_splice Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 220 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) TGCCTTACAGTTCATATATGA 0.388000 35 96 0 0 0.000319135 0 0 ZNF213 7760 broad.mit.edu 37 16 3187371 3187371 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:3187371G>A ENST00000396878.3 + 2 565 c.90G>A c.(88-90)caG>caA p.Q30Q ZNF213_ENST00000574902.1_Silent_p.Q30Q|ZNF213_ENST00000576416.1_Silent_p.Q30Q NM_001134655.1|NM_004220.2 NP_001128127.1|NP_004211.1 O14771 ZN213_HUMAN zinc finger protein 213 30 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 CCTGGGAACAGGAATCTGCCC 0.617000 31 33 0 0 0.000227799 0 0 POLR1B 84172 broad.mit.edu 37 2 113333151 113333151 + Missense_Mutation SNP C C G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:113333151C>G ENST00000263331.5 + 15 3833 c.3253C>G c.(3253-3255)Ccc>Gcc p.P1085A POLR1B_ENST00000541869.1_Missense_Mutation_p.P1123A|POLR1B_ENST00000409894.3_Missense_Mutation_p.P902A|POLR1B_ENST00000417433.2_Missense_Mutation_p.P1029A|POLR1B_ENST00000537335.1_Missense_Mutation_p.P874A NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 1085 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 GGAGAAGCCACCCCCTTCTTG 0.483000 27 27 0 0 0.00106085 0 0 ZNF776 284309 broad.mit.edu 37 19 58265665 58265665 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:58265665C>T ENST00000317178.5 + 3 1430 c.1167C>T c.(1165-1167)tcC>tcT p.S389S ZNF776_ENST00000489376.1_3'UTR NM_173632.3 NP_775903.3 zinc finger protein 776 cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) GGAGCAACTCCCACCTAAAGG 0.443000 28 17 0 0 0.00106085 0 0 OR10A7 121364 broad.mit.edu 37 12 55615394 55615394 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:55615394G>A ENST00000326258.1 + 1 586 c.586G>A c.(586-588)Gaa>Aaa p.E196K NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 AACCATGTATGAAATGCAAGC 0.443000 15 22 0 0 0.000308642 0 0 C1orf173 127254 broad.mit.edu 37 1 75037720 75037720 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:75037720C>T ENST00000326665.5 - 14 3892 c.3674G>A c.(3673-3675)gGa>gAa p.G1225E C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1225 Glu-rich. p.G1225E(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTGCACCTTTCCTGCTGGCTC 0.627000 13 50 0 0 0.000151284 0 0 EMILIN2 84034 broad.mit.edu 37 18 2892139 2892139 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr18:2892139G>A ENST00000254528.3 + 4 2173 c.2014G>A c.(2014-2016)Gag>Aag p.E672K NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 672 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) TCAGCTGGAGGAGAGGTGGCA 0.612000 20 56 0 0 0.000175454 0 0 PGA5 5222 broad.mit.edu 37 11 61017253 61017253 + Missense_Mutation SNP G G A rs139795742 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:61017253G>A ENST00000312403.5 + 7 1071 c.886G>A c.(886-888)Gac>Aac p.D296N PGA4_ENST00000422676.2_Missense_Mutation_p.D296N|PGA5_ENST00000541528.1_Missense_Mutation_p.D36N|PGA5_ENST00000451616.2_Missense_Mutation_p.D142N NM_014224.2 NP_055039.1 P00790 PEPA_HUMAN pepsinogen 5, group I (pepsinogen A) 296 digestion|proteolysis extracellular region aspartic-type endopeptidase activity large_intestine(1)|skin(1) 2 CATCCAGAGCGACATCGGAGC 0.612000 51 128 0 0 0.000781405 0 0 ABL1 25 broad.mit.edu 37 9 133747600 133747600 + Splice_Site SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:133747600G>A ENST00000318560.5 + 5 1288 c.907_splice c.e5+1 p.G303_splice NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 303 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GCAGCTCCTTGGTGAGTAAGC 0.572000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 6 7 0 0 8.12818e-05 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73490749 73490749 + Missense_Mutation SNP T T G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:73490749T>G ENST00000556143.1 - 2 1188 c.468A>C c.(466-468)gaA>gaC p.E156D ZFYVE1_ENST00000318876.5_Missense_Mutation_p.E156D|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.E156D NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 156 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) TTTCTTCATTTTCGTCTACTA 0.453000 5 226 0 0 0.000602214 0 0 ANO2 57101 broad.mit.edu 37 12 5687593 5687593 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:5687593G>A ENST00000356134.5 - 23 2399 c.2328C>T c.(2326-2328)ctC>ctT p.L776L ANO2_ENST00000546188.1_Silent_p.L776L|ANO2_ENST00000327087.8_Silent_p.L775L NM_001278596.1|NM_001278597.1 NP_001265525.1|NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 780 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TCTTTGCATCGAGCCGCACTT 0.542000 21 36 0 0 0.000375601 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140801022 140801022 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:140801022C>T ENST00000398587.2 + 1 261 c.228C>T c.(226-228)ttC>ttT p.F76F PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.F76F|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAGCTTTTCGCTGTGAATC 0.587000 34 17 0 0 0.000814825 0 0 ASCC2 84164 broad.mit.edu 37 22 30202248 30202248 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:30202248C>T ENST00000397771.2 - 13 1294 c.1117G>A c.(1117-1119)Gtg>Atg p.V373M ASCC2_ENST00000542393.1_Missense_Mutation_p.V297M|ASCC2_ENST00000478812.1_5'UTR|ASCC2_ENST00000307790.3_Missense_Mutation_p.V373M Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) TCTTCGGCCACGGGGAAGAGT 0.582000 17 132 0 0 0.000175454 0 0 NANOGP1 404635 broad.mit.edu 37 12 8048124 8048124 + RNA SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:8048124C>T ENST00000607111.1 + 0 52 kidney(1)|lung(4)|prostate(1) 6 AGCCATGATTCTTCCACCAGT 0.438000 36 63 0 0 0.000509022 0 0 ACSL6 23305 broad.mit.edu 37 5 131309057 131309057 + Missense_Mutation SNP A A G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:131309057A>G ENST00000379264.2 - 12 1213 c.1105T>C c.(1105-1107)Ttc>Ctc p.F369L ACSL6_ENST00000296869.4_Missense_Mutation_p.F369L|ACSL6_ENST00000379240.1_Missense_Mutation_p.F344L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F344L|ACSL6_ENST00000544770.1_Missense_Mutation_p.F253L|ACSL6_ENST00000431707.1_Missense_Mutation_p.F324L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F344L|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000379246.1_Missense_Mutation_p.F355L|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000379244.1_Missense_Mutation_p.F344L|ACSL6_ENST00000379272.2_Missense_Mutation_p.F359L NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 344 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTCCCTGGAAGAAGCCAACA 0.547000 11 24 0 0 0.000151284 0 0 C16orf58 64755 broad.mit.edu 37 16 31503655 31503655 + Missense_Mutation SNP A A G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:31503655A>G ENST00000327237.2 - 11 1133 c.1094T>C c.(1093-1095)gTa>gCa p.V365A C16orf58_ENST00000570164.1_Missense_Mutation_p.V363A|C16orf58_ENST00000567994.1_Missense_Mutation_p.V320A Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 365 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 AACTACCTGTACCTGGTCTGG 0.607000 15 12 0 0 0.000219431 0 0 IQCH 64799 broad.mit.edu 37 15 67681217 67681217 + Missense_Mutation SNP A A C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:67681217A>C ENST00000335894.4 + 12 1571 c.1505A>C c.(1504-1506)gAg>gCg p.E502A IQCH_ENST00000358767.3_Missense_Mutation_p.E329A|IQCH_ENST00000546225.1_Missense_Mutation_p.E250A|IQCH_ENST00000360277.4_Missense_Mutation_p.E254A NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 502 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) ATGAATGACGAGTTAGTGCTG 0.393000 26 53 0 0 0.000586117 0 0 DENND3 22898 broad.mit.edu 37 8 142146807 142146807 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:142146807G>A ENST00000519811.1 + 2 372 c.302G>A c.(301-303)gGg>gAg p.G101E DENND3_ENST00000262585.2_Missense_Mutation_p.G21E|DENND3_ENST00000424248.1_Missense_Mutation_p.G21E|DENND3_ENST00000518347.1_Missense_Mutation_p.G101E A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 21 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GGCCTCCCGGGGCCCCCCAGA 0.657000 4 10 0 0 8.12818e-05 0 0 VIMP 55829 broad.mit.edu 37 15 101814677 101814677 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:101814677G>A ENST00000398226.3 - 5 464 c.432C>T c.(430-432)tcC>tcT p.S144S VIMP_ENST00000526049.1_Silent_p.S144S|VIMP_ENST00000537379.1_Silent_p.S144S|VIMP_ENST00000531964.1_Silent_p.S121S VCP-interacting membrane protein CAGATGAAGTGGAAGGCCCAG 0.458000 8 6 0 0 0.000274275 0 0 ARNT2 9915 broad.mit.edu 37 15 80873662 80873662 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:80873662C>T ENST00000533983.1 + 18 2141 c.1802C>T c.(1801-1803)tCc>tTc p.S601F ARNT2_ENST00000303329.4_Missense_Mutation_p.S612F|ARNT2_ENST00000527771.1_Missense_Mutation_p.S601F Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 612 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) GACCCCTCTTCCTACAGCCCC 0.572000 38 27 0 0 0.000228196 0 0 CD2 914 broad.mit.edu 37 1 117297114 117297114 + Translation_Start_Site SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:117297114G>A ENST00000369478.3 + 0 108 CD2_ENST00000369477.1_De_novo_Start_InFrame NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) CAACCCCTAAGATGAGCTTTC 0.453000 9 39 0 0 0.000673444 0 0 TRAV2 28691 broad.mit.edu 37 14 22180877 22180877 + RNA SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:22180877C>T ENST00000390424.2 + 0 159 TGTAATCACTCTGTGTCCAAT 0.468000 109 57 0 0 0.000781405 0 0 BCL2L12 83596 broad.mit.edu 37 19 50173529 50173529 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:50173529C>T ENST00000246785.3 + 6 996 c.738C>T c.(736-738)ttC>ttT p.F246F BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000441864.2_Silent_p.F245F NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 246 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) CCGACTCTTTCGCCCGCCTGG 0.731000 5 16 0 0 8.12818e-05 0 0 BTN1A1 696 broad.mit.edu 37 6 26509343 26509343 + Missense_Mutation SNP G G T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:26509343G>T ENST00000244513.6 + 7 1588 c.1522G>T c.(1522-1524)Gat>Tat p.D508Y NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 508 extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 TGCCCCTAGGGATGCAGACAC 0.522000 10 94 0.00010058 0.00130971 0.00010058 1 0 DDX11 1663 broad.mit.edu 37 12 31249911 31249911 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:31249911C>T ENST00000407793.2 + 17 2000 c.1749C>T c.(1747-1749)atC>atT p.I583I DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.I557I|DDX11_ENST00000545668.1_Silent_p.I583I|DDX11_ENST00000542838.1_Silent_p.I583I|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000350437.4_Silent_p.I583I NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 583 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GCAGGGTCATCCTGAGCCGCC 0.597000 Multiple Myeloma(12;0.14) 9 20 0 0 0.000274275 0 0 PDK3 5165 broad.mit.edu 37 X 24521592 24521592 + Missense_Mutation SNP A A G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:24521592A>G ENST00000441463.2 + 4 469 c.469A>G c.(469-471)Aac>Gac p.N157D PDK3_ENST00000379162.4_Missense_Mutation_p.N157D NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 157 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GTTTTATACCAACCGCATCTC 0.383000 22 11 0 0 0.000295444 0 0 CYTH1 9267 broad.mit.edu 37 17 76676303 76676303 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:76676303C>T ENST00000589297.1 - 13 1602 c.910G>A c.(910-912)Gag>Aag p.E304K CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000591455.1_Missense_Mutation_p.E362K|CYTH1_ENST00000585509.1_Missense_Mutation_p.E304K|CYTH1_ENST00000446868.3_Missense_Mutation_p.E363K|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000361101.4_Missense_Mutation_p.E363K Q15438 CYH1_HUMAN cytohesin 1 363 PH. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 TCCTTCTCCTCGGGCGTCGGA 0.562000 19 40 0 0 0.000295444 0 0 POU1F1 5449 broad.mit.edu 37 3 87309110 87309110 + Missense_Mutation SNP T T G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:87309110T>G ENST00000350375.2 - 6 934 c.810A>C c.(808-810)aaA>aaC p.K270N POU1F1_ENST00000560656.1_3'UTR|POU1F1_ENST00000344265.3_Missense_Mutation_p.K296N NM_000306.2 NP_000297.1 P28069 PIT1_HUMAN POU class 1 homeobox 1 270 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2) 18 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) TTTTCACCCGTTTTTCTCTCT 0.373000 16 30 0 0 0.000958276 0 0 TAF1L 138474 broad.mit.edu 37 9 32633448 32633448 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:32633448C>T ENST00000242310.4 - 1 2219 c.2130G>A c.(2128-2130)atG>atA p.M710I NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 710 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CAACCTGCATCATTAAGGGTC 0.418000 46 52 0 0 0.000781405 0 0 SORCS3 22986 broad.mit.edu 37 10 106918692 106918692 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:106918692C>T ENST00000369701.3 + 11 1899 c.1672C>T c.(1672-1674)Cca>Tca p.P558S NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 558 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTCTGAAAATCCATATTCCTC 0.448000 10 42 0 0 0.000151284 0 0 LOC101927958 101927958 broad.mit.edu 37 2 239141444 239141444 + RNA SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:239141444G>A ENST00000456601.1 + 0 906 ACATGCAGAGGGAGCCAAACC 0.532000 7 11 0 0 8.12818e-05 0 0 SMC1B 27127 broad.mit.edu 37 22 45785651 45785651 + Nonsense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:45785651G>A ENST00000357450.4 - 10 1671 c.1672C>T c.(1672-1674)Cga>Tga p.R558* SMC1B_ENST00000404354.3_Nonsense_Mutation_p.R558* NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 558 Flexible hinge. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTCAGAAATCGAATACAATCT 0.388000 126 76 0 0 0.000781405 0 0 HEG1 57493 broad.mit.edu 37 3 124689609 124689609 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:124689609C>T ENST00000311127.4 - 17 4100 c.4033G>A c.(4033-4035)Gga>Aga p.G1345R NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 1345 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GGGTAGAGTCCGTTTCGTTCA 0.438000 4 7 0 0 0.000602214 0 0 MYO18B 84700 broad.mit.edu 37 22 26222395 26222395 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:26222395G>A ENST00000335473.7 + 14 2965 c.2715G>A c.(2713-2715)gtG>gtA p.V905V MYO18B_ENST00000536101.1_Silent_p.V905V|MYO18B_ENST00000407587.2_Silent_p.V905V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 905 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TGACAGGAGTGGACTGTGTGG 0.562000 42 153 0 0 0.000781405 0 0 ATP13A3 79572 broad.mit.edu 37 3 194146149 194146149 + Missense_Mutation SNP T T A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:194146149T>A ENST00000439040.1 - 30 4026 c.3235A>T c.(3235-3237)Att>Ttt p.I1079F ATP13A3_ENST00000256031.4_Missense_Mutation_p.I1079F Q9H7F0 AT133_HUMAN ATPase type 13A3 1079 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) AAACTGGAAATAAAAAACACT 0.348000 33 33 0 0 0.000339439 0 0 PELI2 57161 broad.mit.edu 37 14 56755313 56755313 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:56755313C>T ENST00000267460.4 + 4 754 c.468C>T c.(466-468)ttC>ttT p.F156F NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 156 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 CACGGATATTCGCCGCCGGAT 0.458000 5 21 0 0 0.000602214 0 0 IGLL5 100423062 broad.mit.edu 37 22 23237605 23237605 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:23237605G>A ENST00000532223.1 + 3 653 c.379G>A c.(379-381)Gag>Aag p.E127K IGLL5_ENST00000531372.1_3'UTR|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000526893.1_Missense_Mutation_p.E126K B9A064 IGLL5_HUMAN immunoglobulin lambda-like polypeptide 5 126 C region (By similarity to lambda light- chain).|Ig-like C1-type. extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1) 7 CTCCTCTGAGGAGCTCCAAGC 0.612000 17 36 0 0 0.00074312 0 0 FCN2 2220 broad.mit.edu 37 9 137778365 137778365 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:137778365G>A ENST00000350339.2 + 6 549 c.535G>A c.(535-537)Gag>Aag p.E179K FCN2_ENST00000291744.6_Missense_Mutation_p.E217K NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 217 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) CGACGAGGCGGAGAAGTACAA 0.572000 39 13 0 0 0.00111076 0 0 TINF2 26277 broad.mit.edu 37 14 24711504 24711504 + Missense_Mutation SNP A A T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:24711504A>T ENST00000399423.4 - 1 365 c.35T>A c.(34-36)cTa>cAa p.L12Q TINF2_ENST00000559019.1_Missense_Mutation_p.L12Q|TINF2_ENST00000540705.1_Missense_Mutation_p.L12Q|TINF2_ENST00000267415.7_Missense_Mutation_p.L12Q|TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000558566.1_Missense_Mutation_p.L12Q NM_012461.2 NP_036593.2 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 12 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|telomeric DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0185) GGCGAAGCGTAGAGCTGCGGG 0.687000 Congenital Dyskeratosis;Ataxia Pancytopenia syndrome OREG0022621 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 33 0 0 0.000157383 0 0 STK31 56164 broad.mit.edu 37 7 23871965 23871965 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:23871965G>A ENST00000354639.3 + 24 3435 c.2971G>A c.(2971-2973)Gaa>Aaa p.E991K STK31_ENST00000428484.1_Missense_Mutation_p.E991K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E1014K|STK31_ENST00000433467.2_Missense_Mutation_p.E991K NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 1014 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAGAAATGGTGAAGCCAACTT 0.313000 97 113 0 0 0.000781405 0 0 FAM181A 90050 broad.mit.edu 37 14 94395003 94395003 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:94395003G>A ENST00000267594.5 + 3 865 c.558G>A c.(556-558)caG>caA p.Q186Q FAM181A_ENST00000556222.1_Silent_p.Q124Q|FAM181A_ENST00000557719.1_Silent_p.Q124Q|FAM181A_ENST00000557000.2_Silent_p.Q124Q NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 186 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 AAGCTGCCCAGCCTGGCCAGG 0.632000 20 13 0 0 0.000175454 0 0 GRN 2896 broad.mit.edu 37 17 42429791 42429791 + Missense_Mutation SNP T T G rs63751698 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:42429791T>G ENST00000053867.3 + 12 1558 c.1496T>G c.(1495-1497)gTg>gGg p.V499G GRN_ENST00000589265.1_Missense_Mutation_p.V342G NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 499 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GAGAAGGAAGTGGTCTCTGCC 0.632000 7 49 0 0 0.000442599 0 0 CD2 914 broad.mit.edu 37 1 117311185 117311185 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:117311185C>T ENST00000369478.3 + 5 944 c.836C>T c.(835-837)tCc>tTc p.S279F NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 279 blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) CCAGCAACTTCCCAACATCCT 0.582000 19 4 0 0 0.000958276 0 0 SERPINB2 5055 broad.mit.edu 37 18 61570538 61570538 + Nonstop_Mutation SNP A A T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr18:61570538A>T ENST00000457692.1 + 9 1580 c.1247A>T c.(1246-1248)tAa>tTa p.*416L SERPINB2_ENST00000299502.4_Nonstop_Mutation_p.*416L NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 0 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TCCTCACCCTAAAACTAAGCG 0.368000 9 4 0 0 0.000978159 0 0 AKAP6 9472 broad.mit.edu 37 14 33292161 33292161 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:33292161G>A ENST00000280979.4 + 13 5312 c.5142G>A c.(5140-5142)tcG>tcA p.S1714S AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1714 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCCCGGAATCGAATGCATCGT 0.468000 42 22 0 0 0.000781405 0 0 PLSCR2 57047 broad.mit.edu 37 3 146166996 146166996 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:146166996G>A ENST00000497985.1 - 8 1300 c.861C>T c.(859-861)ctC>ctT p.L287L PLSCR2_ENST00000336685.2_Silent_p.L214L NM_001199978.1 NP_001186907.1 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 214 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 GACTTACAATGAGGAAACAGG 0.348000 41 58 0 0 0.000509022 0 0 TMEM17 200728 broad.mit.edu 37 2 62728427 62728427 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:62728427G>A ENST00000335390.5 - 4 725 c.514C>T c.(514-516)Cgt>Tgt p.R172C NM_198276.2 NP_938017.2 Q86X19 TMM17_HUMAN transmembrane protein 17 172 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 Lung NSC(7;0.0274)|all_lung(7;0.0568) LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169) AGGTGGAAACGAACTGCCAAC 0.428000 20 111 0 0 0.000132079 0 0 NPHS1 4868 broad.mit.edu 37 19 36334397 36334397 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:36334397C>T ENST00000378910.5 - 17 2310 c.2311G>A c.(2311-2313)Ggc>Agc p.G771S NPHS1_ENST00000353632.6_Missense_Mutation_p.G771S NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 771 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TTGAACATGCCCGGGAGGATG 0.572000 48 47 0 0 0.000781405 0 0 GPR155 151556 broad.mit.edu 37 2 175306874 175306874 + Missense_Mutation SNP T T A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:175306874T>A ENST00000392552.2 - 14 2385 c.2147A>T c.(2146-2148)cAt>cTt p.H716L GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Missense_Mutation_p.H716L|GPR155_ENST00000392551.2_Missense_Mutation_p.H716L NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 716 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 GATGATTAAATGTTTATCTAA 0.269000 10 54 0 0 0.000442599 0 0 RNF112 7732 broad.mit.edu 37 17 19315926 19315926 + Missense_Mutation SNP G G T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:19315926G>T ENST00000461366.1 + 3 426 c.211G>T c.(211-213)Gac>Tac p.D71Y RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 71 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 CATCTCGCTGGACTGTGGCCA 0.652000 12 5 2.80697e-09 3.69063e-08 0.000978159 1 0 MUC16 94025 broad.mit.edu 37 19 9083846 9083846 + Missense_Mutation SNP G G C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:9083846G>C ENST00000397910.4 - 1 8172 c.7969C>G c.(7969-7971)Cca>Gca p.P2657A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2657 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAACTTGTTGGCTCAGTGGCA 0.517000 11 26 0 0 0.000151284 0 0 ILF3 3609 broad.mit.edu 37 19 10794134 10794134 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:10794134C>T ENST00000449870.1 + 15 2096 c.1779C>T c.(1777-1779)ttC>ttT p.F593F ILF3_ENST00000590261.1_Silent_p.F589F|ILF3_ENST00000589998.1_Silent_p.F589F|ILF3_ENST00000588657.1_Silent_p.F593F|ILF3_ENST00000592763.1_Silent_p.F593F|ILF3_ENST00000250241.8_Silent_p.F589F|ILF3_ENST00000420083.1_Silent_p.F589F|ILF3_ENST00000318511.3_Silent_p.F589F|ILF3_ENST00000407004.3_Silent_p.F593F NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 589 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) AAAAGCTTTTCCCTGACACCC 0.542000 19 16 0 0 0.00074312 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805809 20805809 + RNA SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:20805809C>T ENST00000577537.1 + 0 993 RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA TGTTGATTTTCCTGCCCTTCT 0.512000 22 7 0 0 0.000295444 0 0 IDE 3416 broad.mit.edu 37 10 94267332 94267332 + Splice_Site SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:94267332C>T ENST00000265986.6 - 9 1301 c.1245_splice c.e9+1 p.K415_splice NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 415 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACAAAAGTACCTTGCACTCTT 0.313000 172 174 0 0 0.000781405 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174867 207174867 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:207174867G>A ENST00000374423.3 + 5 6001 c.5615G>A c.(5614-5616)gGg>gAg p.G1872E NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1872 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TCTTCGAAGGGGAAAAAAAAG 0.418000 5 17 0 0 3.59834e-05 0 0 CD300A 11314 broad.mit.edu 37 17 72477958 72477958 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:72477958G>A ENST00000360141.3 + 6 1048 c.760G>A c.(760-762)Gaa>Aaa p.E254K CD300A_ENST00000361933.3_Missense_Mutation_p.E58K|CD300A_ENST00000577511.1_Missense_Mutation_p.E124K|CD300A_ENST00000310828.5_Missense_Mutation_p.E141K|CD300A_ENST00000392625.3_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 254 cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 GGTGGAGGTGGAATACAGCAC 0.632000 12 10 0 0 0.00010058 0 0 ASNSD1 54529 broad.mit.edu 37 2 190532655 190532655 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:190532655C>T ENST00000260952.4 + 5 2043 c.1630C>T c.(1630-1632)Cat>Tat p.H544Y ASNSD1_ENST00000607062.1_Missense_Mutation_p.H63Y NM_019048.2 NP_061921.1 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 544 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) TATTGGTGATCATGGAAAAGA 0.358000 17 79 0 0 0.000958276 0 0 MED12L 116931 broad.mit.edu 37 3 151075134 151075134 + Missense_Mutation SNP A A T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:151075134A>T ENST00000474524.1 + 18 2728 c.2690A>T c.(2689-2691)aAt>aTt p.N897I P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.N757I NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 897 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTAATCTTGAATCCTGATCAG 0.423000 13 55 0 0 0.000308642 0 0 HRNR 388697 broad.mit.edu 37 1 152188349 152188349 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:152188349G>A ENST00000368801.2 - 3 5831 c.5756C>T c.(5755-5757)tCa>tTa p.S1919L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1919 keratinization calcium ion binding|protein binding p.S1919*(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGGAAGATGAACCTGAGCT 0.577000 128 1358 0 0 0.000781405 0 0 AGL 178 broad.mit.edu 37 1 100353540 100353540 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:100353540C>T ENST00000294724.4 + 21 3166 c.2688C>T c.(2686-2688)gcC>gcT p.A896A AGL_ENST00000361522.4_Silent_p.A879A|AGL_ENST00000361915.3_Silent_p.A896A|AGL_ENST00000361302.3_Silent_p.A880A|AGL_ENST00000370161.2_Silent_p.A880A|AGL_ENST00000370165.3_Silent_p.A896A|AGL_ENST00000370163.3_Silent_p.A896A NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 896 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TTAGTCTTGCCTCCAGATTAA 0.353000 17 18 0 0 0.000132079 0 0 CHODL 140578 broad.mit.edu 37 21 19638416 19638416 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr21:19638416G>A ENST00000338326.3 + 5 1171 c.657G>A c.(655-657)caG>caA p.Q219Q CHODL_ENST00000400135.1_Silent_p.Q219Q|CHODL_ENST00000299295.2_3'UTR|CHODL_ENST00000543733.1_3'UTR|CHODL_ENST00000400127.1_3'UTR|CHODL_ENST00000400131.1_Silent_p.Q219Q|CHODL_ENST00000400128.1_3'UTR Q9H9P2 CHODL_HUMAN chondrolectin 0 muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) AATGGCATCAGAACAATAGCT 0.348000 11 21 0 0 0.000673444 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509206 110509206 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:110509206G>A ENST00000378402.5 + 64 10490 c.10386G>A c.(10384-10386)ggG>ggA p.G3462G NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3462 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTTTATATGGGATCTATATGA 0.383000 HNSCC(38;0.096) 50 64 0 0 0.000781405 0 0 COL20A1 57642 broad.mit.edu 37 20 61957455 61957455 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:61957455G>A ENST00000422202.1 + 29 3499 c.3431G>A c.(3430-3432)aGa>aAa p.R1144K COL20A1_ENST00000358894.6_Missense_Mutation_p.R1137K|COL20A1_ENST00000326996.6_Missense_Mutation_p.R1169K|COL20A1_ENST00000435874.1_Missense_Mutation_p.R1144K Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 1137 Collagen-like 2. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CAGGGAATGAGAGGCCTGGAG 0.657000 14 63 0 0 0.00074312 0 0 KMT2D 8085 broad.mit.edu 37 12 49420215 49420215 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:49420215G>A ENST00000301067.7 - 48 15533 c.15534C>T c.(15532-15534)ttC>ttT p.F5178F NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCCCCACACGGAACATGTGCA 0.587000 10 24 0 0 0.000978159 0 0 ITGB2 3689 broad.mit.edu 37 21 46323296 46323296 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr21:46323296G>A ENST00000397850.2 - 6 935 c.483C>T c.(481-483)acC>acT p.T161T ITGB2_ENST00000397852.1_Silent_p.T161T|ITGB2_ENST00000397857.1_Silent_p.T161T|ITGB2_ENST00000302347.5_Silent_p.T161T|ITGB2_ENST00000397854.3_Intron|ITGB2_ENST00000355153.4_Silent_p.T161T P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 161 VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GGCCGGACTCGGTGATCTCGT 0.592000 32 47 0 0 0.000409698 0 0 ISX 91464 broad.mit.edu 37 22 35481636 35481636 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:35481636C>T ENST00000308700.6 + 4 1640 c.688C>T c.(688-690)Ctt>Ttt p.L230F ISX_ENST00000404699.2_Missense_Mutation_p.L230F NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox 230 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 GCTATGCATCCTTCCACCTCC 0.552000 87 49 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9084638 9084638 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:9084638G>A ENST00000397910.4 - 1 7380 c.7177C>T c.(7177-7179)Ccc>Tcc p.P2393S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2393 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGCTAGTGGGACTGATGGAG 0.463000 13 29 0 0 0.00010058 0 0 RBM26 64062 broad.mit.edu 37 13 79929422 79929422 + Missense_Mutation SNP T T A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr13:79929422T>A ENST00000438737.2 - 12 2227 c.1787A>T c.(1786-1788)aAt>aTt p.N596I RBM26_ENST00000267229.7_Missense_Mutation_p.N596I|RBM26_ENST00000438724.1_Missense_Mutation_p.N596I Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 596 RRM 1. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) AATAAAGCGATTGTTTAATAC 0.388000 17 19 0 0 0.000175454 0 0 ZNF862 643641 broad.mit.edu 37 7 149543277 149543277 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:149543277C>T ENST00000223210.4 + 3 419 c.174C>T c.(172-174)ttC>ttT p.F58F NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 58 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 TCCGCAAGTTCGGACGAGGGC 0.557000 15 27 0 0 0.00074312 0 0 FBXL4 26235 broad.mit.edu 37 6 99365585 99365585 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:99365585G>A ENST00000369244.2 - 5 951 c.523C>T c.(523-525)Ctt>Ttt p.L175F FBXL4_ENST00000229971.1_Missense_Mutation_p.L175F Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 175 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) TCTGACCAAAGAATCTCCCAT 0.408000 10 42 0 0 0.000442599 0 0 PDK2 5164 broad.mit.edu 37 17 48184467 48184467 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:48184467G>A ENST00000503176.1 + 6 796 c.635G>A c.(634-636)tGt>tAt p.C212Y PDK2_ENST00000007708.3_Missense_Mutation_p.C148Y NM_002611.4 NP_002602.2 Q15119 PDK2_HUMAN pyruvate dehydrogenase kinase, isozyme 2 212 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|nucleus ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 20 AAGCTCCTGTGTGACAAGTAT 0.567000 Autosomal Dominant Polycystic Kidney Disease 12 74 0 0 0.000308642 0 0 TUBA1B 10376 broad.mit.edu 37 12 49522723 49522723 + Splice_Site SNP T T C rs11546601 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:49522723T>C ENST00000336023.5 - 4 470 c.e4-2 RP11-386G11.10_ENST00000547387.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 CTGGTCAGCCTGTAGGGGAAT 0.423000 12 43 0 0 0.000219431 0 0 OGDHL 55753 broad.mit.edu 37 10 50959932 50959932 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:50959932C>T ENST00000374103.4 - 6 775 c.690G>A c.(688-690)gtG>gtA p.V230V OGDHL_ENST00000419399.1_Silent_p.V173V|OGDHL_ENST00000432695.1_Silent_p.V21V NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 230 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 AGAACTGCATCACACCAGGGG 0.602000 54 60 0 0 0.000781405 0 0 KMT2D 8085 broad.mit.edu 37 12 49420214 49420214 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:49420214G>A ENST00000301067.7 - 48 15534 c.15535C>T c.(15535-15537)Cgt>Tgt p.R5179C NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCCCCCACACGGAACATGTGC 0.592000 10 23 0 0 0.000673444 0 0 MIR7162 102466227 broad.mit.edu 37 15 62539289 62539289 + RNA SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:62539289C>T ENST00000570077.1 - 0 300 GCTGTGCACTCTCTCCTCCCT 0.612000 7 11 0 0 0.000157383 0 0 CDR1 1038 broad.mit.edu 37 X 139866304 139866304 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:139866304C>T ENST00000370532.2 - 1 419 c.228G>A c.(226-228)agG>agA p.R76R NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 76 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CCTTGTCTTCCCTCAAATCCA 0.463000 19 6 0 0 0.000132079 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 19 51 0 0 0.000175454 0 0 CCDC74A 90557 broad.mit.edu 37 2 132290454 132290454 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:132290454C>T ENST00000295171.6 + 6 1032 c.894C>T c.(892-894)tcC>tcT p.S298S CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Silent_p.S232S NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 298 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 ACCTCAAGTCCCTCCTGGAAG 0.701000 17 16 0 0 0.000295444 0 0 TRAV26-2 28656 broad.mit.edu 37 14 22671215 22671215 + RNA SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:22671215C>T ENST00000390460.1 + 0 280 GATCCTGCACCGTGCTACCTT 0.502000 5 13 0 0 0.000602214 0 0 LRP1B 53353 broad.mit.edu 37 2 141806610 141806610 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:141806610G>A ENST00000389484.3 - 11 2705 c.1734C>T c.(1732-1734)ttC>ttT p.F578F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 578 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) GGCCAATTAGGAAACTGGTGG 0.428000 TSP Lung(27;0.18) 6 25 0 0 8.12818e-05 0 0 PDZD7 79955 broad.mit.edu 37 10 102789856 102789856 + Missense_Mutation SNP G G C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:102789856G>C ENST00000370215.3 - 2 346 c.121C>G c.(121-123)Cga>Gga p.R41G PDZD7_ENST00000470414.1_Missense_Mutation_p.R41G NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 41 cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) AGCAGGTATCGCGTTGCGGTG 0.652000 12 49 0 0 0.000151284 0 0 SYNE1 23345 broad.mit.edu 37 6 152719759 152719759 + Missense_Mutation SNP G G C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:152719759G>C ENST00000367255.5 - 49 7946 c.7345C>G c.(7345-7347)Ctt>Gtt p.L2449V SYNE1_ENST00000341594.5_Missense_Mutation_p.L2487V|SYNE1_ENST00000448038.1_Missense_Mutation_p.L2456V|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2456V|SYNE1_ENST00000265368.4_Missense_Mutation_p.L2449V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2449 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TATACCTGAAGATCATGGAGC 0.448000 HNSCC(10;0.0054) 11 45 0 0 0.000673444 0 0 ARAP3 64411 broad.mit.edu 37 5 141051754 141051754 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:141051754G>A ENST00000239440.4 - 10 1565 c.1500C>T c.(1498-1500)gcC>gcT p.A500A ARAP3_ENST00000508305.1_Silent_p.A422A|ARAP3_ENST00000513878.1_Silent_p.A162A NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 500 Arf-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 ACTGCCGGTTGGCCCGATTAG 0.622000 25 52 0 0 0.000586117 0 0 VTN 7448 broad.mit.edu 37 17 26696734 26696734 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:26696734C>T ENST00000226218.4 - 3 941 c.323G>A c.(322-324)gGg>gAg p.G108E TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR NM_000638.3 NP_000629.3 P04004 VTNC_HUMAN vitronectin 108 cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 13 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) CTCAGGATTCCCTTTGGACTG 0.592000 17 14 0 0 0.00074312 0 0 MTTP 4547 broad.mit.edu 37 4 100521847 100521847 + Missense_Mutation SNP G G C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:100521847G>C ENST00000457717.1 + 10 1449 c.1193G>C c.(1192-1194)gGa>gCa p.G398A MTTP_ENST00000511045.1_Missense_Mutation_p.G425A|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.G398A NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 398 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TATGCCTGTGGATTTGCTTCT 0.393000 17 10 0 0 0.000132079 0 0 NPY 4852 broad.mit.edu 37 7 24325033 24325033 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:24325033C>T ENST00000407573.1 + 3 464 c.174C>T c.(172-174)ctC>ctT p.L58L NPY_ENST00000405982.1_Silent_p.L58L|NPY_ENST00000242152.2_Silent_p.L58L P01303 NPY_HUMAN neuropeptide Y 58 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 ACATCAACCTCATCACCAGGC 0.637000 11 12 0 0 0.00010058 0 0 PKP2 5318 broad.mit.edu 37 12 32945415 32945415 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:32945415C>T ENST00000340811.4 - 13 2565 c.2457G>A c.(2455-2457)aaG>aaA p.K819K PKP2_ENST00000070846.6_Silent_p.K863K NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 863 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AATCTGTCTTCTTAAACTGAG 0.423000 34 48 0 0 0.00111076 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278216 36278216 + Nonsense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:36278216C>T ENST00000007510.4 + 21 2893 c.2749C>T c.(2749-2751)Cag>Tag p.Q917* ARHGAP33_ENST00000314737.5_Nonsense_Mutation_p.Q756*|ARHGAP33_ENST00000378944.5_Nonsense_Mutation_p.Q781* O14559 RHG33_HUMAN Rho GTPase activating protein 33 917 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GCAACAGAGCCAGCAGGAGTG 0.721000 8 15 0 0 0.000442599 0 0 SCFD1 23256 broad.mit.edu 37 14 31204066 31204066 + Splice_Site SNP T T C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:31204066T>C ENST00000458591.2 + 24 2132 c.e24+2 SCFD1_ENST00000421551.3_Splice_Site|SCFD1_ENST00000396629.2_Splice_Site|SCFD1_ENST00000541123.1_Splice_Site|SCFD1_ENST00000544052.2_Splice_Site NM_016106.3 NP_057190.2 Q8WVM8 SCFD1_HUMAN sec1 family domain containing 1 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) ATAAAACAGGTAAAGTATACA 0.358000 36 24 0 0 0.00058488 0 0 USP9X 8239 broad.mit.edu 37 X 41000634 41000634 + Nonsense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:41000634C>T ENST00000324545.7 + 9 1744 c.1111C>T c.(1111-1113)Cga>Tga p.R371* USP9X_ENST00000378308.2_Nonsense_Mutation_p.R371* NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 371 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 CTATACTCATCGACATGGTAA 0.358000 6 3 0 0 3.59834e-05 0 0 NLRP4 147945 broad.mit.edu 37 19 56388493 56388493 + Missense_Mutation SNP G G T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:56388493G>T ENST00000301295.6 + 8 3079 c.2657G>T c.(2656-2658)cGg>cTg p.R886L NLRP4_ENST00000587891.1_Missense_Mutation_p.R811L|NLRP4_ENST00000346986.5_Missense_Mutation_p.R830L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 886 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTGTTGTGTCGGGCTCTGACG 0.498000 5 119 8.12818e-05 0.00106097 8.12818e-05 1 0 PRR23C 389152 broad.mit.edu 37 3 138763024 138763024 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:138763024C>T ENST00000413199.1 - 1 710 c.439G>A c.(439-441)Gag>Aag p.E147K MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.E147K NM_001134657.1 NP_001128129.1 Q6ZRP0 PR23C_HUMAN proline rich 23C 147 breast(2)|lung(7)|skin(2) 11 GCAGCGATCTCTGGGACAGAT 0.662000 4 7 0 0 0.000602214 0 0 GPR98 84059 broad.mit.edu 37 5 89949028 89949028 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:89949028G>A ENST00000405460.2 + 20 3733 c.3637G>A c.(3637-3639)Gga>Aga p.G1213R NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1213 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGTTACAGGTGGATCCCCAGG 0.398000 6 3 0 0 3.59834e-05 0 0 HERC3 8916 broad.mit.edu 37 4 89591116 89591116 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:89591116C>T ENST00000402738.1 + 15 1978 c.1739C>T c.(1738-1740)cCc>cTc p.P580L HERC3_ENST00000543130.1_Missense_Mutation_p.P24L|HERC3_ENST00000264345.3_Missense_Mutation_p.P580L NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 580 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TTCTTAATTCCCGTACTGTTT 0.428000 22 14 0 0 0.000229342 0 0 SORCS3 22986 broad.mit.edu 37 10 107012560 107012560 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:107012560C>T ENST00000369701.3 + 23 3360 c.3133C>T c.(3133-3135)Ctc>Ttc p.L1045F NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1045 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGACCAGATCCTCATTGCCGT 0.527000 12 51 0 0 0.000151284 0 0 MXRA5 25878 broad.mit.edu 37 X 3241141 3241141 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:3241141C>T ENST00000217939.6 - 5 2739 c.2585G>A c.(2584-2586)aGc>aAc p.S862N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 862 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TAGCCCCATGCTGGCTGAGGA 0.473000 40 4 0 0 0.000270559 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30953357 30953357 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:30953357G>A ENST00000402321.1 - 2 340 c.23C>T c.(22-24)cCc>cTc p.P8L GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P8L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P8L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P8L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P8L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P8L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P8L Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 8 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 GGACTCCCAGGGCTTCTTCTG 0.652000 51 35 0 0 0.000781405 0 0 FOXR2 139628 broad.mit.edu 37 X 55650514 55650514 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:55650514G>A ENST00000339140.3 + 1 682 c.370G>A c.(370-372)Gag>Aag p.E124K NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 124 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 TAACTGCTCAGAGGACAAAGT 0.517000 12 1 0 0 0.00010058 0 0 ZNF235 9310 broad.mit.edu 37 19 44792789 44792789 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:44792789C>T ENST00000291182.4 - 5 901 c.799G>A c.(799-801)Gaa>Aaa p.E267K ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) TCTTCACATTCATTACCCTGG 0.418000 5 32 0 0 0.000602214 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599030 136599030 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:136599030G>A ENST00000531224.1 - 4 1241 c.989C>T c.(988-990)aCt>aTt p.T330I BCLAF1_ENST00000392348.2_Missense_Mutation_p.T328I|BCLAF1_ENST00000353331.4_Missense_Mutation_p.T328I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.T330I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.T330I|BCLAF1_ENST00000527759.1_Missense_Mutation_p.T328I NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 330 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AGTCTTTGCAGTTTCCTGATC 0.378000 5 37 0 0 3.59834e-05 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102988580 102988580 + Missense_Mutation SNP A A T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:102988580A>T ENST00000375735.2 + 6 1131 c.987A>T c.(985-987)aaA>aaT p.K329N DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K329N|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.K329N NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 329 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) AACTTGGCAAACGCCTTGAAG 0.333000 8 26 0 0 0.000157383 0 0 SRL 6345 broad.mit.edu 37 16 4242966 4242966 + Splice_Site SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:4242966C>T ENST00000399609.3 - 6 623 c.e6-1 SRL_ENST00000537996.1_Splice_Site NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 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 AAGGGGTAGCCTTTGGGAGAC 0.517000 12 18 0 0 0.000219431 0 0 NIPBL 25836 broad.mit.edu 37 5 37022475 37022475 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:37022475C>T ENST00000282516.8 + 29 6056 c.5557C>T c.(5557-5559)Ctg>Ttg p.L1853L NIPBL_ENST00000448238.2_Silent_p.L1853L NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1853 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TTATGATATGCTGATTGAAAG 0.333000 16 36 0 0 0.00074312 0 0 FAM60A 58516 broad.mit.edu 37 12 31448266 31448266 + Splice_Site SNP A A G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:31448266A>G ENST00000337682.4 - 3 498 c.128_splice c.e3-1 p.L44_splice FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Splice_Site_p.L44_splice|FAM60A_ENST00000395766.1_5'UTR NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 44 large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) GTCTCATGCAATCTGATAAGA 0.383000 12 55 0 0 0.000219431 0 0 AGL 178 broad.mit.edu 37 1 100353539 100353539 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:100353539C>T ENST00000294724.4 + 21 3165 c.2687C>T c.(2686-2688)gCc>gTc p.A896V AGL_ENST00000361522.4_Missense_Mutation_p.A879V|AGL_ENST00000361915.3_Missense_Mutation_p.A896V|AGL_ENST00000361302.3_Missense_Mutation_p.A880V|AGL_ENST00000370161.2_Missense_Mutation_p.A880V|AGL_ENST00000370165.3_Missense_Mutation_p.A896V|AGL_ENST00000370163.3_Missense_Mutation_p.A896V NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 896 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CTTAGTCTTGCCTCCAGATTA 0.348000 17 18 0 0 0.000132079 0 0 NOP9 161424 broad.mit.edu 37 14 24771298 24771298 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:24771298C>T ENST00000267425.3 + 4 1029 c.936C>T c.(934-936)tcC>tcT p.S312S NOP9_ENST00000396802.3_Silent_p.S312S NM_174913.1 NP_777573.1 NOP9 nucleolar protein CTCGCGGTTCCTCAGTAGATG 0.498000 58 38 0 0 0.000781405 0 0 VTN 7448 broad.mit.edu 37 17 26696733 26696733 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:26696733C>T ENST00000226218.4 - 3 942 c.324G>A c.(322-324)ggG>ggA p.G108G TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR NM_000638.3 NP_000629.3 P04004 VTNC_HUMAN vitronectin 108 cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 13 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) GCTCAGGATTCCCTTTGGACT 0.597000 18 14 0 0 0.000958276 0 0 ZNF335 63925 broad.mit.edu 37 20 44592393 44592393 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:44592393C>T ENST00000322927.2 - 8 1439 c.1339G>A c.(1339-1341)Ggc>Agc p.G447S ZNF335_ENST00000426788.1_Missense_Mutation_p.G292S NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TATTTCTTGCCTAGGAAGCGC 0.607000 53 148 0 0 0.000781405 0 0 GPR98 84059 broad.mit.edu 37 5 90000297 90000297 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:90000297G>A ENST00000405460.2 + 36 8474 c.8378G>A c.(8377-8379)aGg>aAg p.R2793K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2793 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TATGATGTCAGGACACAAGGT 0.303000 4 3 0 0 0.00024832 0 0 MAP3K19 80122 broad.mit.edu 37 2 135738899 135738899 + Missense_Mutation SNP T T C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:135738899T>C ENST00000375845.3 - 9 3442 c.3412A>G c.(3412-3414)Att>Gtt p.I1138V MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.I320V|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.I272V|MAP3K19_ENST00000358371.4_Missense_Mutation_p.I1025V|MAP3K19_ENST00000392917.3_Missense_Mutation_p.I270V NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 TCCATGAAAATGCTCACAGTG 0.408000 17 45 0 0 0.000958276 0 0 GPI 2821 broad.mit.edu 37 19 34887329 34887329 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:34887329C>T ENST00000415930.3 + 13 1389 c.1219C>T c.(1219-1221)Cac>Tac p.H407Y GPI_ENST00000356487.5_Missense_Mutation_p.H396Y|GPI_ENST00000586425.1_Missense_Mutation_p.H396Y NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 396 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) CCAGCTCATCCACCAAGGTAG 0.567000 15 27 0 0 0.000308642 0 0 KIF25 3834 broad.mit.edu 37 6 168445549 168445549 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:168445549G>A ENST00000443060.2 + 10 1419 c.1028G>A c.(1027-1029)aGc>aAc p.S343N KIF25_ENST00000354419.2_Missense_Mutation_p.S343N|KIF25_ENST00000351261.3_Missense_Mutation_p.S291N Q9UIL4 KIF25_HUMAN kinesin family member 25 343 microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) ATTTCTCCCAGCCAGAGGCAC 0.552000 18 82 0 0 0.000229342 0 0 BSG 682 broad.mit.edu 37 19 582305 582305 + Splice_Site SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:582305G>A ENST00000333511.3 + 7 1139 c.e7-1 BSG_ENST00000346916.4_Splice_Site|BSG_ENST00000353555.4_Splice_Site|BSG_ENST00000545507.2_Splice_Site NM_001728.3 NP_001719.2 P35613 BASI_HUMAN basigin blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTTCTTCAGATGACGACGC 0.637000 19 30 0 0 0.00047179 0 0 RPAP1 26015 broad.mit.edu 37 15 41826993 41826993 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:41826993G>A ENST00000304330.4 - 6 798 c.682C>T c.(682-684)Cat>Tat p.H228Y RPAP1_ENST00000561603.1_Missense_Mutation_p.H228Y NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 228 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) TTCTCTTCATGGATAGTCTGG 0.582000 15 26 0 0 0.000308642 0 0 BAI2 576 broad.mit.edu 37 1 32221987 32221987 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:32221987G>A ENST00000373658.3 - 4 792 c.451C>T c.(451-453)Ctg>Ttg p.L151L BAI2_ENST00000398556.3_Silent_p.L154L|BAI2_ENST00000398547.1_Silent_p.L139L|BAI2_ENST00000373655.2_Silent_p.L151L|BAI2_ENST00000398542.1_Silent_p.L139L|BAI2_ENST00000527361.1_Silent_p.L151L|BAI2_ENST00000257070.4_Silent_p.L151L|BAI2_ENST00000398538.1_Silent_p.L139L NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 151 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TCGAAGTGCAGGAAGGTAAAG 0.687000 13 10 0 0 0.00010058 0 0 NCR1 9437 broad.mit.edu 37 19 55417933 55417933 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:55417933G>A ENST00000594765.1 + 3 148 c.123G>A c.(121-123)aaG>aaA p.K41K NCR1_ENST00000338835.5_Silent_p.K41K|NCR1_ENST00000447255.1_Silent_p.K41K|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000598576.1_Silent_p.K29K|NCR1_ENST00000291890.4_Silent_p.K41K|NCR1_ENST00000350790.5_Intron O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 41 Ig-like 1. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) TGGTTCCAAAGGAAAAGCAAG 0.542000 17 64 0 0 0.000958276 0 0 CUZD1 50624 broad.mit.edu 37 10 124598677 124598677 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:124598677G>A ENST00000368904.1 - 5 1253 c.304C>T c.(304-306)Ctg>Ttg p.L102L CUZD1_ENST00000392790.1_Silent_p.L102L|CUZD1_ENST00000545804.1_Silent_p.L102L Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 102 CUB 1. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TGCCCTAGCAGAGGCCCATTG 0.418000 36 107 0 0 0.000228196 0 0 STARD10 10809 broad.mit.edu 37 11 72492032 72492032 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:72492032C>T ENST00000334805.6 - 2 1114 c.195G>A c.(193-195)ctG>ctA p.L65L STARD10_ENST00000538536.1_Intron|STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000545082.1_Intron|STARD10_ENST00000543304.1_Silent_p.L65L|ARAP1_ENST00000359373.5_Intron NM_006645.2 NP_006636.2 Q9Y365 PCTL_HUMAN StAR-related lipid transfer (START) domain containing 10 65 START. endometrium(4)|large_intestine(1)|lung(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(5;7.08e-07) TGATCTTGTGCAGCGTCCGAT 0.612000 39 121 0 0 0.000509022 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26237767 26237767 + RNA SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:26237767C>T ENST00000519902.1 - 0 2181 GCTGTTGTCTCTTTTACAGCA 0.413000 10 23 0 0 0.000442599 0 0 PREX2 80243 broad.mit.edu 37 8 68995569 68995569 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:68995569C>T ENST00000288368.4 + 18 2250 c.1973C>T c.(1972-1974)tCg>tTg p.S658L PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 658 PDZ 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTCCTGAAATCGTGTTTAAAC 0.353000 31 42 0 0 0.000692331 0 0 MYO9A 4649 broad.mit.edu 37 15 72192092 72192092 + Nonsense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:72192092G>A ENST00000356056.5 - 24 3878 c.3406C>T c.(3406-3408)Caa>Taa p.Q1136* MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q1117*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q756*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q1136*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q1136* NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1136 IQ 4.|Neck or regulatory domain. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTTTGTTCTTGGTACCTTTTA 0.368000 28 36 0 0 0.000279167 0 0 ZNF831 128611 broad.mit.edu 37 20 57768418 57768418 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:57768418G>A ENST00000371030.2 + 1 2344 c.2344G>A c.(2344-2346)Gac>Aac p.D782N NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 782 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGTTTGGCCGGACCCCAAGCT 0.657000 7 23 0 0 0.000274275 0 0 FAM171B 165215 broad.mit.edu 37 2 187627296 187627296 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:187627296C>T ENST00000304698.5 + 8 2430 c.2227C>T c.(2227-2229)Cta>Tta p.L743L NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 743 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AGATTTAGACCTAAGCAGCAG 0.488000 10 33 0 0 0.000151284 0 0 AHRR 57491 broad.mit.edu 37 5 434652 434652 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:434652G>A ENST00000316418.5 + 12 1907 c.1863G>A c.(1861-1863)agG>agA p.R621R AHRR_ENST00000505113.1_Silent_p.R603R|AHRR_ENST00000506456.1_Silent_p.R459R|AHRR_ENST00000512529.1_Silent_p.R449R NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 603 Needed for transcriptional repression (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CCCATGGGAGGGCCACTGCTG 0.672000 4 11 0 0 0.00024832 0 0 PCDHA7 56141 broad.mit.edu 37 5 140216216 140216216 + Missense_Mutation SNP T T C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:140216216T>C ENST00000525929.1 + 1 2248 c.2248T>C c.(2248-2250)Ttc>Ctc p.F750L PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.F750L|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTGGTCATTCTCCCAGCA 0.637000 7 25 0 0 0.000157383 0 0 CDH18 1016 broad.mit.edu 37 5 19483644 19483644 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:19483644G>A ENST00000507958.1 - 14 2638 c.1648C>T c.(1648-1650)Ctg>Ttg p.L550L CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Silent_p.L550L|CDH18_ENST00000274170.4_Silent_p.L550L|CDH18_ENST00000502796.1_Intron Q13634 CAD18_HUMAN cadherin 18, type 2 550 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CGCCTTGTCAGAATGCTGGCT 0.428000 35 60 0 0 0.000228196 0 0 GPR112 139378 broad.mit.edu 37 X 135427956 135427956 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:135427956C>T ENST00000394143.1 + 6 2382 c.2091C>T c.(2089-2091)tcC>tcT p.S697S GPR112_ENST00000287534.4_Silent_p.S634S|GPR112_ENST00000370652.1_Silent_p.S697S|GPR112_ENST00000394141.1_Silent_p.S492S|GPR112_ENST00000412101.1_Silent_p.S492S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 697 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AATATTTATCCGCAACTACCA 0.398000 24 2 0 0 0.00047179 0 0 SIPA1 6494 broad.mit.edu 37 11 65417244 65417244 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:65417244C>T ENST00000394224.3 + 12 2950 c.2654C>T c.(2653-2655)cCc>cTc p.P885L SIPA1_ENST00000394227.3_Missense_Mutation_p.P783L|SIPA1_ENST00000534313.1_Missense_Mutation_p.P885L|SIPA1_ENST00000527525.1_Missense_Mutation_p.P783L NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 885 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 CCAGGCAGTCCCAGTGGCTCT 0.597000 17 36 0 0 0.00074312 0 0 LINGO4 339398 broad.mit.edu 37 1 151773683 151773683 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:151773683C>T ENST00000368820.3 - 2 2435 c.1498G>A c.(1498-1500)Gaa>Aaa p.E500K NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 500 Ig-like C2-type. integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGGATGACTTCCAGCCAGGTC 0.572000 91 65 0 0 0.000781405 0 0 MYB 4602 broad.mit.edu 37 6 135516936 135516936 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:135516936C>T ENST00000341911.5 + 9 1198 c.999C>T c.(997-999)gcC>gcT p.A333A MYB_ENST00000533624.1_Silent_p.A298A|MYB_ENST00000528774.1_Silent_p.A330A|MYB_ENST00000442647.2_Silent_p.A330A|MYB_ENST00000525369.1_Intron|MYB_ENST00000316528.8_Silent_p.A333A|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000367814.4_Silent_p.A333A|MYB_ENST00000527615.1_Silent_p.A333A|MYB_ENST00000534121.1_Silent_p.A333A|MYB_ENST00000534044.1_Silent_p.A333A NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 333 Negative regulatory domain (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) CCACCATTGCCGACCACACCA 0.552000 T NFIB adenoid cystic carcinoma 12 51 0 0 0.00010058 0 0 DDX42 11325 broad.mit.edu 37 17 61889322 61889322 + Missense_Mutation SNP A A G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:61889322A>G ENST00000578681.1 + 15 2030 c.1429A>G c.(1429-1431)Att>Gtt p.I477V DDX42_ENST00000389924.2_Missense_Mutation_p.I477V|DDX42_ENST00000583590.1_Missense_Mutation_p.I477V|DDX42_ENST00000359353.5_Missense_Mutation_p.I358V|DDX42_ENST00000457800.2_Missense_Mutation_p.I477V NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 477 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 GATTGTGGAGATTCTCCATTC 0.453000 38 368 0 0 0.000953801 0 0 RASA2 5922 broad.mit.edu 37 3 141295844 141295844 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:141295844G>A ENST00000286364.3 + 15 1521 c.1486G>A c.(1486-1488)Gac>Aac p.D496N RASA2_ENST00000452898.1_Missense_Mutation_p.D496N Q15283 RASA2_HUMAN RAS p21 protein activator 2 496 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 TCCTGCAGATGACCCTCATGT 0.348000 24 83 0 0 0.000375601 0 0 OTUD7A 161725 broad.mit.edu 37 15 31793901 31793901 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:31793901C>T ENST00000382902.1 - 8 1255 c.1163G>A c.(1162-1164)aGa>aAa p.R388K OTUD7A_ENST00000307050.4_Missense_Mutation_p.R381K Q8TE49 OTU7A_HUMAN OTU domain containing 7A 381 Catalytic (By similarity).|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) ACCTTGTTCTCTTTGCTGGTC 0.577000 11 50 0 0 0.00010058 0 0 ADH1A 124 broad.mit.edu 37 4 100205660 100205660 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:100205660C>T ENST00000209668.2 - 5 576 c.463G>A c.(463-465)Gaa>Aaa p.E155K RP11-696N14.1_ENST00000500358.2_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 155 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) ACTGCATTTTCATCCACCACT 0.522000 17 7 0 0 0.000422831 0 0 CASS4 57091 broad.mit.edu 37 20 55027732 55027732 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:55027732C>T ENST00000371336.3 + 5 1701 c.1500C>T c.(1498-1500)gtC>gtT p.V500V CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Silent_p.V500V NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 500 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CCCGAGGAGTCCATGGGACTG 0.478000 45 36 0 0 0.000680045 0 0 NDUFAF5 79133 broad.mit.edu 37 20 13769244 13769244 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:13769244C>T ENST00000378106.5 + 3 392 c.273C>T c.(271-273)ccC>ccT p.P91P NDUFAF5_ENST00000463598.1_Silent_p.P91P|NDUFAF5_ENST00000475968.1_3'UTR NM_024120.4 NP_077025.2 Q5TEU4 CT007_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 91 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity GAAATTTCCCCCTTGCTTTGG 0.303000 43 13 0 0 0.000781405 0 0 C7orf43 55262 broad.mit.edu 37 7 99754797 99754797 + Missense_Mutation SNP A A C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:99754797A>C ENST00000316937.3 - 5 950 c.765T>G c.(763-765)gaT>gaG p.D255E C7orf43_ENST00000419841.1_Missense_Mutation_p.D23E|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_5'UTR NM_018275.3 NP_060745.3 Q8WVR3 CG043_HUMAN chromosome 7 open reading frame 43 255 breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1) 10 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGATTCGGATATCCCAGATGG 0.577000 9 23 0 0 0.000274275 0 0 ZSCAN32 54925 broad.mit.edu 37 16 3432960 3432960 + Missense_Mutation SNP C C G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:3432960C>G ENST00000396852.4 - 7 2293 c.1986G>C c.(1984-1986)agG>agC p.R662S LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R373S|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R662S|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R450S zinc finger and SCAN domain containing 32 AGTGAGAACACCTGTAAGGCT 0.493000 16 49 0 0 0.000308642 0 0 EVI5 7813 broad.mit.edu 37 1 93201978 93201978 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:93201978C>T ENST00000370331.1 - 2 267 c.258G>A c.(256-258)ctG>ctA p.L86L EVI5_ENST00000540033.1_Silent_p.L86L|EVI5_ENST00000543509.1_Silent_p.L86L NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 86 Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) CCAGTTTAGCCAGGAGTTCTA 0.403000 6 37 0 0 3.59834e-05 0 0 DACH1 1602 broad.mit.edu 37 13 72440119 72440119 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr13:72440119C>T ENST00000305425.4 - 1 1211 c.789G>A c.(787-789)gtG>gtA p.V263V DACH1_ENST00000359684.2_Silent_p.V263V|DACH1_ENST00000354591.4_Silent_p.V263V|DACH1_ENST00000313174.7_Silent_p.V263V NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 261 DACHbox-N.|Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TGCAGCGGTTCACTCCTGGCT 0.622000 17 10 0 0 0.000175454 0 0 SDK1 221935 broad.mit.edu 37 7 4150372 4150372 + Missense_Mutation SNP G G T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:4150372G>T ENST00000404826.2 + 23 3541 c.3402G>T c.(3400-3402)gaG>gaT p.E1134D SDK1_ENST00000389531.3_Missense_Mutation_p.E1134D NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1134 Fibronectin type-III 5. 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) AGATGCTGGAGATCCCAAACC 0.557000 20 45 5.45024e-15 7.25404e-14 0.00047179 1 0 SETD1A 9739 broad.mit.edu 37 16 30977592 30977592 + Missense_Mutation SNP T T A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:30977592T>A ENST00000262519.8 + 8 3076 c.2390T>A c.(2389-2391)aTg>aAg p.M797K NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 797 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 GTGCTCGCCATGCTGGTCCAG 0.637000 5 19 0 0 3.59834e-05 0 0 PHF21A 51317 broad.mit.edu 37 11 46001479 46001479 + Silent SNP T T G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:46001479T>G ENST00000257821.4 - 6 815 c.192A>C c.(190-192)gtA>gtC p.V64V PHF21A_ENST00000418153.2_Silent_p.V64V|PHF21A_ENST00000323180.6_Silent_p.V64V NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 64 Gln-rich. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 GTTCTTGCTTTACTATCAGGT 0.388000 21 78 0 0 0.000375601 0 0 COL6A6 131873 broad.mit.edu 37 3 130282243 130282243 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:130282243C>T ENST00000358511.6 + 2 427 c.396C>T c.(394-396)ccC>ccT p.P132P COL6A6_ENST00000453409.2_Silent_p.P132P NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 132 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AACAGTTTCCCCCAATTCTAG 0.507000 16 21 0 0 0.000958276 0 0 RCL1 10171 broad.mit.edu 37 9 4826983 4826983 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:4826983C>T ENST00000381750.4 + 3 557 c.334C>T c.(334-336)Ccg>Tcg p.P112S RCL1_ENST00000381732.3_Missense_Mutation_p.P112S NM_005772.3 NP_005763.3 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 112 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) TATGAAGCACCCGTTAAAAAT 0.453000 41 42 0 0 0.000228196 0 0 LMX1A 4009 broad.mit.edu 37 1 165180005 165180005 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:165180005C>T ENST00000342310.3 - 6 1060 c.678G>A c.(676-678)gaG>gaA p.E226E LMX1A_ENST00000367893.4_Silent_p.E226E|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000294816.2_Silent_p.E226E|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 226 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CAGCCAGAGTCTCTCTCACCT 0.478000 27 18 0 0 0.000184323 0 0 SLTM 79811 broad.mit.edu 37 15 59192026 59192026 + Missense_Mutation SNP T T G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:59192026T>G ENST00000380516.2 - 7 787 c.700A>C c.(700-702)Act>Cct p.T234P SLTM_ENST00000536328.1_Intron NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 234 Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TCTTTCACAGTCGTATGAGCT 0.463000 65 43 0 0 0.000781405 0 0 PML 5371 broad.mit.edu 37 15 74290560 74290560 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:74290560C>T ENST00000565898.1 + 2 429 c.345C>T c.(343-345)cgC>cgT p.R115R PML_ENST00000354026.6_Silent_p.R115R|PML_ENST00000436891.3_Silent_p.R115R|PML_ENST00000435786.2_Silent_p.R115R|PML_ENST00000359928.4_Silent_p.R115R|PML_ENST00000563500.1_Silent_p.R115R|PML_ENST00000395135.3_Silent_p.R115R|PML_ENST00000569477.1_Silent_p.R115R|PML_ENST00000569965.1_Silent_p.R115R|PML_ENST00000567543.1_Silent_p.R115R|PML_ENST00000268058.3_Silent_p.R115R|PML_ENST00000268059.6_Silent_p.R115R|PML_ENST00000395132.2_Silent_p.R115R|PML_ENST00000564428.1_Silent_p.R115R P29590 PML_HUMAN promyelocytic leukemia 115 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 TGCAGCGGCGCCTGTCGGTGT 0.642000 T """RARA, PAX5""" """APL, ALL""" 25 24 0 0 0.000586117 0 0 INSR 3643 broad.mit.edu 37 19 7122746 7122746 + Missense_Mutation SNP C C A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:7122746C>A ENST00000341500.5 - 18 3411 c.3372G>T c.(3370-3372)atG>atT p.M1124I INSR_ENST00000302850.5_Missense_Mutation_p.M1136I NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 1136 Protein kinase. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCATCTGAATCATCTCTTGAA 0.572000 77 271 7.539e-32 1.00836e-30 0.000781405 1 0 ZNF614 80110 broad.mit.edu 37 19 52521670 52521670 + Missense_Mutation SNP G G T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:52521670G>T ENST00000270649.6 - 3 637 c.93C>A c.(91-93)aaC>aaA p.N31K ZNF614_ENST00000356322.6_Missense_Mutation_p.N31K NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 31 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CCCGGTACAGGTTCTTCTGAG 0.498000 36 34 3.03874e-20 4.0544e-19 0.00058488 1 0 SLCO6A1 133482 broad.mit.edu 37 5 101748766 101748766 + Silent SNP T T G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:101748766T>G ENST00000506729.1 - 9 1725 c.1554A>C c.(1552-1554)ggA>ggC p.G518G SLCO6A1_ENST00000379807.3_Silent_p.G518G|SLCO6A1_ENST00000389019.3_Silent_p.G456G|SLCO6A1_ENST00000379810.1_Silent_p.G265G|SLCO6A1_ENST00000513675.1_Silent_p.G265G Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 518 Kazal-like. integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TATCATCTCTTCCACATATAG 0.313000 15 19 0 0 0.000308642 0 0 PRIMPOL 201973 broad.mit.edu 37 4 185615812 185615812 + Missense_Mutation SNP A A C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:185615812A>C ENST00000314970.6 + 14 1995 c.1562A>C c.(1561-1563)tAt>tCt p.Y521S CCDC111_ENST00000515774.1_Missense_Mutation_p.Y392S|CCDC111_ENST00000510864.1_3'UTR|CCDC111_ENST00000512834.1_Missense_Mutation_p.Y520S|MLF1IP_ENST00000281453.5_3'UTR|CCDC111_ENST00000503752.1_Missense_Mutation_p.Y521S NM_152683.2 NP_689896.1 Q96LW4 CC111_HUMAN 521 DNA replication, synthesis of RNA primer DNA primase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2) 16 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) GATGATGCTTATTTTTTAGAA 0.413000 12 35 0 0 0.000978159 0 0 EPO 2056 broad.mit.edu 37 7 100320459 100320459 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:100320459G>A ENST00000252723.2 + 4 600 c.419G>A c.(418-420)gGa>gAa p.G140E NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 140 G -> R (in Ref. 1; CAA26095). blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) CGGGCTCTGGGAGCCCAGGTG 0.577000 7 42 0 0 8.12818e-05 0 0 DNAH5 1767 broad.mit.edu 37 5 13920716 13920716 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:13920716C>T ENST00000265104.4 - 6 775 c.671G>A c.(670-672)cGa>cAa p.R224Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 224 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R224Q(2) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTCACACTTTCGAAGGTTCAC 0.393000 Kartagener syndrome 46 58 0 0 0.000589545 0 0 CCDC83 220047 broad.mit.edu 37 11 85606409 85606409 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:85606409G>A ENST00000280245.4 + 6 1097 c.585G>A c.(583-585)aaG>aaA p.K195K CCDC83_ENST00000342404.3_Silent_p.K195K|CCDC83_ENST00000376067.1_Silent_p.K96K|CCDC83_ENST00000529676.2_3'UTR NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 195 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TGGACCAAAAGAAGGAATGGG 0.279000 42 54 0 0 0.000781405 0 0 LRP1B 53353 broad.mit.edu 37 2 141460024 141460024 + Nonsense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:141460024C>T ENST00000389484.3 - 38 7093 c.6122G>A c.(6121-6123)tGg>tAg p.W2041* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2041 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) GCCATTCGGCCATGCTATTCC 0.438000 TSP Lung(27;0.18) 4 16 0 0 0.000602214 0 0 ZBBX 79740 broad.mit.edu 37 3 167023529 167023529 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:167023529C>T ENST00000392766.2 - 17 1967 c.1627G>A c.(1627-1629)Gag>Aag p.E543K ZBBX_ENST00000307529.5_Missense_Mutation_p.E543K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E543K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E543K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E514K NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 543 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 AATTTCTCCTCAATGGGAGCT 0.353000 16 36 0 0 0.000422831 0 0 COL4A4 1286 broad.mit.edu 37 2 227954607 227954607 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:227954607C>T ENST00000396625.3 - 21 1643 c.1436G>A c.(1435-1437)gGa>gAa p.G479E COL4A4_ENST00000329662.7_Missense_Mutation_p.G479E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 479 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TGGGCCTCTTCCTCCTGGGGG 0.478000 5 100 0 0 0.000602214 0 0 CNTN2 6900 broad.mit.edu 37 1 205033865 205033865 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:205033865C>T ENST00000331830.4 + 12 1790 c.1506C>T c.(1504-1506)atC>atT p.I502I NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 502 Ig-like C2-type 5. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCACTGGAATCCTATCTGTGC 0.547000 20 98 0 0 0.000229342 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710468 140710468 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:140710468C>T ENST00000517417.1 + 1 217 c.217C>T c.(217-219)Ccg>Tcg p.P73S PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P73S NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTAGGATGCCGCTTTTCGC 0.587000 48 46 0 0 0.000781405 0 0 C5orf45 51149 broad.mit.edu 37 5 179268957 179268957 + Silent SNP G G T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:179268957G>T ENST00000518219.1 - 5 410 c.399C>A c.(397-399)tcC>tcA p.S133S C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000523267.1_Intron|C5orf45_ENST00000403396.2_Silent_p.S175S|C5orf45_ENST00000518235.1_Silent_p.S133S|C5orf45_ENST00000292586.6_Silent_p.S133S|C5orf45_ENST00000376931.2_Silent_p.S78S|C5orf45_ENST00000520698.1_Silent_p.S78S|C5orf45_ENST00000523084.1_5'UTR Q6NTE8 CE045_HUMAN chromosome 5 open reading frame 45 133 breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 CCTCCATTTTGGATGAAGGCT 0.567000 9 414 0.000442599 0.00574955 0.000442599 1 0 ICA1L 130026 broad.mit.edu 37 2 203684597 203684597 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:203684597G>A ENST00000392237.2 - 6 542 c.385C>T c.(385-387)Cgt>Tgt p.R129C ICA1L_ENST00000425178.1_Missense_Mutation_p.R129C|ICA1L_ENST00000358299.2_Missense_Mutation_p.R129C|ICA1L_ENST00000418208.1_Missense_Mutation_p.S63L NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 129 AH. breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGCTTCAGACGAGACAGAGGA 0.423000 79 237 0 0 0.000781405 0 0 ITGB4 3691 broad.mit.edu 37 17 73745079 73745079 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:73745079C>T ENST00000200181.3 + 27 3456 c.3269C>T c.(3268-3270)gCc>gTc p.A1090V ITGB4_ENST00000579662.1_Missense_Mutation_p.A1090V|ITGB4_ENST00000450894.3_Missense_Mutation_p.A1090V|ITGB4_ENST00000449880.2_Missense_Mutation_p.A1090V|ITGB4_ENST00000339591.3_Missense_Mutation_p.A1090V NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1090 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AAGTTTGGGGCCCACCTGGGC 0.647000 15 37 0 0 0.000566183 0 0 UFM1 51569 broad.mit.edu 37 13 38924147 38924147 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr13:38924147C>T ENST00000239878.4 + 2 53 c.14C>T c.(13-15)tCc>tTc p.S5F UFM1_ENST00000379649.1_5'UTR NM_016617.2 NP_057701.1 P61960 UFM1_HUMAN ubiquitin-fold modifier 1 5 protein ufmylation cytoplasm|nucleus protein binding lung(2)|ovary(1) 3 Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132) TCGAAGGTTTCCTTTAAGATC 0.582000 31 26 0 0 0.000409698 0 0 GABRG2 2566 broad.mit.edu 37 5 161569262 161569262 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:161569262G>A ENST00000356592.3 + 7 1322 c.862G>A c.(862-864)Gtc>Atc p.V288I GABRG2_ENST00000361925.4_Missense_Mutation_p.V288I|GABRG2_ENST00000393933.4_Missense_Mutation_p.V193I|GABRG2_ENST00000414552.2_Missense_Mutation_p.V328I NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 288 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) 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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ACTCATTGTCGTCCTATCCTG 0.433000 97 37 0 0 0.000781405 0 0 TSSC4 10078 broad.mit.edu 37 11 2424493 2424493 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:2424493G>A ENST00000333256.6 + 3 1073 c.630G>A c.(628-630)gaG>gaA p.E210E TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000380996.5_Silent_p.E146E|TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000451491.2_Silent_p.E210E Q9Y5U2 TSSC4_HUMAN tumor suppressing subtransferable candidate 4 210 endometrium(3)|large_intestine(1)|lung(4) 8 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTGTGGGGAGGGGAGGGTCA 0.662000 111 182 0 0 0.000781405 0 0 COL4A2 1284 broad.mit.edu 37 13 111142067 111142067 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr13:111142067G>A ENST00000360467.5 + 36 3587 c.3281G>A c.(3280-3282)gGg>gAg p.G1094E NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1094 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGTGACATCGGGGACACTATA 0.443000 54 27 0 0 0.000781405 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33403030 33403030 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:33403030C>T ENST00000418600.2 + 6 712 c.611C>T c.(610-612)tCc>tTc p.S204F SYNGAP1_ENST00000428982.2_Missense_Mutation_p.S145F|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.S204F NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 204 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 GATGAAGATTCCATTATCAAG 0.547000 49 40 0 0 0.000781405 0 0 C7orf34 135927 broad.mit.edu 37 7 142637616 142637616 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:142637616G>A ENST00000409607.3 + 2 427 c.386G>A c.(385-387)gGa>gAa p.G129E NM_178829.4 NP_849151.2 Q96L11 CG034_HUMAN chromosome 7 open reading frame 34 104 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) GTTTTCTCAGGAGGGCCATTG 0.542000 53 106 0 0 0.000781405 0 0 FNIP1 96459 broad.mit.edu 37 5 131039813 131039813 + Missense_Mutation SNP G G A rs13177318 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:131039813G>A ENST00000307968.7 - 9 976 c.977C>T c.(976-978)tCa>tTa p.S326L FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.S354L|FNIP1_ENST00000510461.1_Missense_Mutation_p.S354L|FNIP1_ENST00000307954.8_Missense_Mutation_p.S309L NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) AGGAAAATGTGAAAAAAAGAA 0.289000 27 18 0 0 0.000227799 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445449 10445449 + Missense_Mutation SNP A A G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:10445449A>G ENST00000326756.3 - 3 2942 c.2504T>C c.(2503-2505)aTg>aCg p.M835T NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 835 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 ATTTGGGGACATATCTATTGG 0.458000 70 19 0 0 0.000781405 0 0 LRP1B 53353 broad.mit.edu 37 2 141460004 141460004 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:141460004C>T ENST00000389484.3 - 38 7113 c.6142G>A c.(6142-6144)Gac>Aac p.D2048N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2048 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) ACCTCATAGTCGATGGAGATG 0.398000 TSP Lung(27;0.18) 4 15 0 0 0.00024832 0 0 SPTBN5 51332 broad.mit.edu 37 15 42160315 42160315 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:42160315G>A ENST00000320955.6 - 34 6386 c.6159C>T c.(6157-6159)ctC>ctT p.L2053L NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2053 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) CTCTGAGGAAGAGCTGCTCCT 0.662000 3 8 0 0 6.4e-05 0 0 GORASP2 26003 broad.mit.edu 37 2 171819372 171819372 + Missense_Mutation SNP C C G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:171819372C>G ENST00000234160.4 + 9 1749 c.934C>G c.(934-936)Ctg>Gtg p.L312V GORASP2_ENST00000452526.2_Missense_Mutation_p.L324V|GORASP2_ENST00000493692.1_3'UTR NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 312 Pro-rich. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 ACCAGCAGGACTGCCCAACCT 0.468000 8 27 0 0 0.000673444 0 0 MAGED1 9500 broad.mit.edu 37 X 51638164 51638164 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:51638164G>A ENST00000375695.2 + 4 382 c.229G>A c.(229-231)Gaa>Aaa p.E77K MAGED1_ENST00000375772.3_Missense_Mutation_p.E21K|MAGED1_ENST00000375722.1_Missense_Mutation_p.E21K|MAGED1_ENST00000326587.7_Missense_Mutation_p.E21K|MAGED1_ENST00000494718.1_3'UTR NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 21 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) GGCCTCCGTAGAAGACAGCGC 0.592000 Multiple Myeloma(10;0.10) 15 2 0 0 0.000308642 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830630 7830630 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:7830630C>T ENST00000327325.5 + 4 439 c.321C>T c.(319-321)tcC>tcT p.S107S CLEC4M_ENST00000357361.2_Silent_p.S107S|CLEC4M_ENST00000334806.5_Silent_p.S79S|CLEC4M_ENST00000597522.1_Silent_p.S107S|CLEC4M_ENST00000596707.1_Silent_p.S86S|CLEC4M_ENST00000248228.4_Silent_p.S107S|CLEC4M_ENST00000596363.1_Silent_p.S79S|CLEC4M_ENST00000595496.1_Silent_p.S86S|CLEC4M_ENST00000394122.2_Silent_p.S95S|CLEC4M_ENST00000359059.5_Silent_p.S86S NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 107 cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 CAGAGAAATCCAAGCTGCAGG 0.552000 39 45 0 0 0.000781405 0 0 DNMT3A 1788 broad.mit.edu 37 2 25467476 25467476 + Nonsense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:25467476G>A ENST00000264709.3 - 14 1937 c.1600C>T c.(1600-1602)Cag>Tag p.Q534* DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.Q345*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.Q311*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.Q534* NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 534 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGTAGGACTGGTAGCCGTCG 0.597000 """Mis, F, N, S""" AML 8 51 0 0 0.000442599 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123645368 123645368 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:123645368G>A ENST00000606320.1 - 23 3616 c.3410C>T c.(3409-3411)tCt>tTt p.S1137F MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S1107F|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S985F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S985F Q99550 MPP9_HUMAN M-phase phosphoprotein 9 985 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TCCTCCAGGAGAAGGCATCCT 0.403000 11 29 0 0 0.00010058 0 0 SNUPN 10073 broad.mit.edu 37 15 75890955 75890955 + Missense_Mutation SNP C C G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:75890955C>G ENST00000371091.5 - 10 1405 c.953G>C c.(952-954)tGg>tCg p.W318S SNUPN_ENST00000564675.1_Missense_Mutation_p.W276S|CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000567134.1_Missense_Mutation_p.W276S|SNUPN_ENST00000308588.5_Missense_Mutation_p.W276S|SNUPN_ENST00000564644.1_Missense_Mutation_p.W276S O95149 SPN1_HUMAN snurportin 1 276 Necessary for binding to the m3G-cap structure. ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly cytosol|nuclear pore protein transporter activity|RNA cap binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1) 8 GGGGCGCAGCCAGCCCACCAA 0.557000 29 200 0 0 0.000227799 0 0 SLC3A1 6519 broad.mit.edu 37 2 44539728 44539728 + Missense_Mutation SNP G G A rs139377923 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:44539728G>A ENST00000260649.6 + 8 1412 c.1336G>A c.(1336-1338)Ggt>Agt p.G446S SLC3A1_ENST00000409380.1_Missense_Mutation_p.G168S|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G446S|SLC3A1_ENST00000409294.1_Missense_Mutation_p.G66S|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G446S|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G446S|SLC3A1_ENST00000409740.3_Missense_Mutation_p.G77S NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 446 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) CTTTCAGATTGGTGGACCAGA 0.403000 64 25 0 0 0.000781405 0 0 NLRP7 199713 broad.mit.edu 37 19 55451704 55451704 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:55451704C>T ENST00000588756.1 - 6 969 c.483G>A c.(481-483)ttG>ttA p.L161L NLRP7_ENST00000592784.1_Silent_p.L161L|NLRP7_ENST00000448121.2_Silent_p.L161L|NLRP7_ENST00000446217.1_Silent_p.L189L|NLRP7_ENST00000328092.5_Silent_p.L161L|NLRP7_ENST00000340844.2_Silent_p.L161L|NLRP7_ENST00000590030.1_Silent_p.L161L Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 161 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TTCTGGGATTCAAGAATGGAA 0.507000 84 82 0 0 0.000781405 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869541 36869541 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:36869541G>A ENST00000279024.4 - 3 1263 c.992C>T c.(991-993)tCc>tTc p.S331F NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 331 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) ATTTCCCAAGGAAGGTCCTTC 0.488000 106 227 0 0 0.000781405 0 0 A3GALT2 127550 broad.mit.edu 37 1 33778437 33778437 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:33778437G>A ENST00000442999.3 - 2 77 c.78C>T c.(76-78)ggC>ggT p.G26G RP11-415J8.3_ENST00000588828.1_RNA|RP11-415J8.3_ENST00000457957.2_RNA NM_001080438.1 NP_001073907.1 alpha 1,3-galactosyltransferase 2 Myeloproliferative disorder(586;0.0393) ACAGAAACAGGCCTAAGAGGC 0.512000 5 16 0 0 3.59834e-05 0 0 OR51E2 81285 broad.mit.edu 37 11 4703441 4703441 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:4703441G>A ENST00000396950.3 - 2 740 c.501C>T c.(499-501)ttC>ttT p.F167F NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) TGGAGTGGCAGAAGGCCAGCC 0.512000 17 57 0 0 0.00074312 0 0 USP44 84101 broad.mit.edu 37 12 95927253 95927253 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:95927253G>A ENST00000258499.3 - 2 1068 c.780C>T c.(778-780)tcC>tcT p.S260S USP44_ENST00000537435.2_Silent_p.S260S|USP44_ENST00000393091.2_Silent_p.S260S|USP44_ENST00000552440.1_Silent_p.S260S NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 260 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 GTTTAACTGAGGAGTCACTGA 0.393000 26 72 0 0 0.000279167 0 0 OR5R1 219479 broad.mit.edu 37 11 56185123 56185123 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:56185123C>T ENST00000312253.1 - 1 585 c.586G>A c.(586-588)Gaa>Aaa p.E196K NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E196K(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) ATCAGAATTTCCTTCATGTGT 0.433000 14 20 0 0 0.000151284 0 0 RANBP6 26953 broad.mit.edu 37 9 6013286 6013286 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:6013286G>A ENST00000259569.5 - 1 2332 c.2322C>T c.(2320-2322)ctC>ctT p.L774L NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 774 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TTATTTCTGAGAGCACATCTG 0.413000 16 65 0 0 0.000566183 0 0 RAB11FIP3 9727 broad.mit.edu 37 16 476580 476580 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:476580C>T ENST00000262305.4 + 1 962 c.574C>T c.(574-576)Ccc>Tcc p.P192S RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.P192S NM_014700.3 NP_055515.1 O75154 RFIP3_HUMAN RAB11 family interacting protein 3 (class II) 192 Pro-rich. cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) CCAGACCCACCCCCTTCCGAG 0.731000 4 15 0 0 0.000602214 0 0 DSP 1832 broad.mit.edu 37 6 7583534 7583534 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:7583534G>A ENST00000379802.3 + 24 6380 c.6039G>A c.(6037-6039)cgG>cgA p.R2013R DSP_ENST00000418664.2_Silent_p.R1414R NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2013 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CATTCCTTCGGGGTGCAGGAT 0.448000 28 49 0 0 0.000720815 0 0 RNF112 7732 broad.mit.edu 37 17 19315925 19315925 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:19315925G>A ENST00000461366.1 + 3 425 c.210G>A c.(208-210)ctG>ctA p.L70L RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 70 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 CCATCTCGCTGGACTGTGGCC 0.652000 12 4 0 0 0.000978159 0 0 BLNK 29760 broad.mit.edu 37 10 97983740 97983740 + Nonsense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:97983740G>A ENST00000224337.5 - 6 508 c.367C>T c.(367-369)Cga>Tga p.R123* BLNK_ENST00000427367.2_Nonsense_Mutation_p.R123*|BLNK_ENST00000413476.2_Nonsense_Mutation_p.R123*|BLNK_ENST00000371176.2_Nonsense_Mutation_p.R123* NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 123 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) TGGCTTGATCGATTGTCTTGA 0.498000 56 55 0 0 0.000781405 0 0 VCP 7415 broad.mit.edu 37 9 35061055 35061055 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:35061055G>A ENST00000358901.6 - 11 2211 c.1316C>T c.(1315-1317)gCc>gTc p.A439V NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 439 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CATGACCTCGGCATCAATGGT 0.532000 34 116 0 0 0.000814825 0 0 ATP8B2 57198 broad.mit.edu 37 1 154316679 154316679 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:154316679C>T ENST00000368489.3 + 19 2083 c.2083C>T c.(2083-2085)Ctc>Ttc p.L695F NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 681 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GACCATTGCCCTCCTGACACT 0.537000 7 48 0 0 0.000157383 0 0 DDX39B 7919 broad.mit.edu 37 6 31500584 31500584 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:31500584G>A ENST00000417556.2 - 8 1515 c.885C>T c.(883-885)gaC>gaT p.D295D DDX39B_ENST00000415382.2_Silent_p.D202D|DDX39B_ENST00000376177.2_Silent_p.D280D|DDX39B_ENST00000458640.1_Silent_p.D280D|DDX39B_ENST00000396172.1_Silent_p.D280D|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 280 Helicase C-terminal. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 CATCCAGAAGGTCAAAGAGCT 0.493000 27 66 0 0 0.00106085 0 0 MFSD6L 162387 broad.mit.edu 37 17 8702360 8702360 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:8702360C>T ENST00000329805.4 - 1 307 c.79G>A c.(79-81)Gaa>Aaa p.E27K NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 27 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 ACGCAGGCTTCCCGCACCCCG 0.677000 14 5 0 0 0.000566183 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30953356 30953356 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:30953356G>A ENST00000402321.1 - 2 341 c.24C>T c.(22-24)ccC>ccT p.P8P GAL3ST1_ENST00000406361.1_Silent_p.P8P|GAL3ST1_ENST00000401975.1_Silent_p.P8P|GAL3ST1_ENST00000402369.1_Silent_p.P8P|GAL3ST1_ENST00000406955.1_Silent_p.P8P|GAL3ST1_ENST00000338911.5_Silent_p.P8P|GAL3ST1_ENST00000443111.2_Silent_p.P8P Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 8 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 TGGACTCCCAGGGCTTCTTCT 0.652000 52 34 0 0 0.000781405 0 0 MAMDC2 256691 broad.mit.edu 37 9 72723222 72723222 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:72723222C>T ENST00000377182.4 + 3 861 c.244C>T c.(244-246)Cgt>Tgt p.R82C MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 82 MAM 1. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 GAGCTGCCTCCGTTTGGTCTA 0.493000 25 6 0 0 0.000878237 0 0 BMP5 653 broad.mit.edu 37 6 55625290 55625290 + Missense_Mutation SNP C C T rs147691986 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:55625290C>T ENST00000370830.3 - 5 1767 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K BMP5_ENST00000446683.2_Missense_Mutation_p.E357K NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 357 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) ACATAGAGTTCGTGCTTCTTA 0.348000 19 11 0 0 0.000175454 0 0 KRT12 3859 broad.mit.edu 37 17 39019850 39019850 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:39019850G>A ENST00000251643.4 - 5 1005 c.982C>T c.(982-984)Cgt>Tgt p.R328C NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 328 Coil 2.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) ATCTCCTTACGGAGCTCCCCG 0.567000 17 49 0 0 0.000422831 0 0 SEMA4F 10505 broad.mit.edu 37 2 74907289 74907289 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:74907289C>T ENST00000357877.2 + 14 2415 c.2266C>T c.(2266-2268)Cgg>Tgg p.R756W SEMA4F_ENST00000339773.5_Missense_Mutation_p.R601W NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 756 cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 AGCCCACATTCGGCTAACTGG 0.557000 10 69 0 0 0.000978159 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58302877 58302877 + Missense_Mutation SNP C C A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:58302877C>A ENST00000249750.4 - 4 1230 c.463G>T c.(463-465)Gat>Tat p.D155Y ALDH1A2_ENST00000558231.1_Missense_Mutation_p.D126Y|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.D59Y|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.D155Y|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.D134Y NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 155 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TGAATTTTATCAGCCCAGCCT 0.443000 14 51 2.61681e-11 3.46584e-10 0.000219431 1 0 AQP5 362 broad.mit.edu 37 12 50355885 50355885 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:50355885C>T ENST00000293599.6 + 1 233 c.85C>T c.(85-87)Ctg>Ttg p.L29L RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA NM_001651.2 NP_001642.1 P55064 AQP5_HUMAN aquaporin 5 29 carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity large_intestine(1)|lung(3) 4 CTTCTTTGGCCTGGGCTCGGC 0.667000 12 22 0 0 0.000308642 0 0 TNNI3K 51086 broad.mit.edu 37 1 74957790 74957790 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:74957790C>T ENST00000370891.2 + 25 2510 c.2494C>T c.(2494-2496)Cct>Tct p.P832S LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.P832S|TNNI3K_ENST00000326637.3_Missense_Mutation_p.P731S NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 GCTGATGTCTCCTGCATCAAG 0.453000 21 175 0 0 0.000586117 0 0 LY9 4063 broad.mit.edu 37 1 160771696 160771696 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:160771696C>T ENST00000368039.2 + 3 572 c.571C>T c.(571-573)Cgg>Tgg p.R191W LY9_ENST00000368041.2_Intron|LY9_ENST00000263285.5_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000471816.1_Intron NM_001033667.2 NP_001028839.1 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 0 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGTGAGCGTGCGGGAGGGCTA 0.692000 21 69 0 0 0.000132079 0 0 OBSCN 84033 broad.mit.edu 37 1 228481085 228481085 + Silent SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:228481085G>A ENST00000570156.2 + 46 12260 c.12186G>A c.(12184-12186)agG>agA p.R4062R OBSCN_ENST00000284548.11_Silent_p.R3633R|OBSCN_ENST00000422127.1_Silent_p.R3633R|OBSCN_ENST00000366709.4_Silent_p.R752R|OBSCN_ENST00000359599.6_Silent_p.R2480R|OBSCN_ENST00000366707.4_Silent_p.R752R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3103 Ig-like 41. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGGTCTGAGGAACGAAGAGG 0.542000 7 15 0 0 8.12818e-05 0 0 BTD 686 broad.mit.edu 37 3 15677086 15677086 + Missense_Mutation SNP C C G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:15677086C>G ENST00000383778.4 + 2 498 c.140C>G c.(139-141)tCc>tGc p.S47C BTD_ENST00000449107.1_Missense_Mutation_p.S69C|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000437172.1_Missense_Mutation_p.S69C|BTD_ENST00000303498.5_Missense_Mutation_p.S67C P43251 BTD_HUMAN biotinidase 67 central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 GAGCATCCATCCATCCTGAGT 0.557000 24 105 0 0 0.000586117 0 0 CACNA1G 8913 broad.mit.edu 37 17 48669190 48669190 + Silent SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:48669190C>T ENST00000352832.5 + 12 3102 c.2730C>T c.(2728-2730)ctC>ctT p.L910L CACNA1G_ENST00000503485.1_Silent_p.L910L|CACNA1G_ENST00000515411.1_Silent_p.L910L|CACNA1G_ENST00000429973.2_Silent_p.L910L|CACNA1G_ENST00000514079.1_Silent_p.L910L|CACNA1G_ENST00000510366.1_Silent_p.L910L|CACNA1G_ENST00000513964.1_Silent_p.L910L|CACNA1G_ENST00000502264.1_Silent_p.L910L|CACNA1G_ENST00000505165.1_Silent_p.L910L|CACNA1G_ENST00000513689.2_Silent_p.L910L|CACNA1G_ENST00000512389.1_Silent_p.L910L|CACNA1G_ENST00000507510.2_Silent_p.L910L|CACNA1G_ENST00000514717.1_Silent_p.L910L|CACNA1G_ENST00000514181.1_Silent_p.L910L|CACNA1G_ENST00000442258.2_Silent_p.L910L|CACNA1G_ENST00000507336.1_Silent_p.L910L|CACNA1G_ENST00000359106.5_Silent_p.L910L|CACNA1G_ENST00000360761.4_Silent_p.L910L|CACNA1G_ENST00000358244.5_Silent_p.L910L|CACNA1G_ENST00000510115.1_Silent_p.L910L|CACNA1G_ENST00000515765.1_Silent_p.L910L|CACNA1G_ENST00000416767.4_Silent_p.L910L|CACNA1G_ENST00000515165.1_Silent_p.L910L|CACNA1G_ENST00000507609.1_Silent_p.L910L|CACNA1G_ENST00000354983.4_Silent_p.L910L|CACNA1G_ENST00000507896.1_Silent_p.L910L NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 910 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) ACTCCTTGCTCTGGGCCATCG 0.597000 13 54 0 0 0.000151284 0 0 DNAH7 56171 broad.mit.edu 37 2 196681368 196681368 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:196681368C>T ENST00000312428.6 - 51 9845 c.9745G>A c.(9745-9747)Gaa>Aaa p.E3249K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3249 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GCCAAAATTTCTGATTTCTCT 0.328000 10 25 0 0 0.000673444 0 0 C6orf15 29113 broad.mit.edu 37 6 31079318 31079318 + Missense_Mutation SNP C C T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:31079318C>T ENST00000259870.3 - 2 821 c.818G>A c.(817-819)gGg>gAg p.G273E NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 273 Gly-rich. endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 ATTAATATTCCCCCAGCTGCC 0.502000 32 91 0 0 0.00058488 0 0 OR52E2 119678 broad.mit.edu 37 11 5080763 5080763 + Missense_Mutation SNP G G A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:5080763G>A ENST00000321522.2 - 1 94 c.95C>T c.(94-96)cCc>cTc p.P32L NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) AGCACAGAAGGGAAAGCCGAT 0.502000 20 14 0 0 0.000175454 0 0 GLT8D1 55830 broad.mit.edu 37 3 52731861 52731877 + Frame_Shift_Del DEL CCACAGGAATCTCCTCT CCACAGGAATCTCCTCT - TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:52731861_52731877delCCACAGGAATCTCCTCT ENST00000407584.3 - 5 1039_1055 c.189_205delAGAGGAGATTCCTGTGG c.(187-207)catcfs p.QEEIPVV63fs GLT8D1_ENST00000266014.5_Frame_Shift_Del_p.QEEIPVV63fs|GLT8D1_ENST00000478968.2_Frame_Shift_Del_p.QEEIPVV63fs|GLT8D1_ENST00000491606.1_Frame_Shift_Del_p.QEEIPVV63fs|GLT8D1_ENST00000394783.3_Frame_Shift_Del_p.QEEIPVV63fs NM_001010983.1|NM_001278280.1 NP_001010983.1|NP_001265209.1 Q68CQ7 GL8D1_HUMAN glycosyltransferase 8 domain containing 1 63 integral to membrane|mitochondrion transferase activity, transferring glycosyl groups breast(1)|endometrium(1)|kidney(3)|large_intestine(3) 8 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCAGCGATGACCACAGGAATCTCCTCTTGTCTCCCAT 0.470 14 62 --- --- --- --- C6orf223 221416 broad.mit.edu 37 6 43970504 43970509 + In_Frame_Del DEL GCGGCG GCGGCG - rs72369323 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:43970504_43970509delGCGGCG ENST00000336600.5 + 4 390_395 c.370_375delGCGGCG c.(370-375)del p.AA130del C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|RP5-1120P11.1_ENST00000607590.1_RNA NM_001171992.1|NM_153246.4 NP_001165463.1|NP_694978.2 Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 130 Ala-rich. central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) GGTAGAGCGCgcggcggcggcggcgg 0.772 5 11 --- --- --- --- GTF2IRD1P1 729156 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 4 3 --- --- --- --- NFIB 4781 broad.mit.edu 37 9 14146714 14146714 + Frame_Shift_Del DEL C C - rs144909299 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:14146714delC ENST00000380959.3 - 6 1372 c.899delG c.(898-900)atfs p.S300fs NFIB_ENST00000380953.1_Frame_Shift_Del_p.S300fs|NFIB_ENST00000397581.2_Frame_Shift_Del_p.S300fs|NFIB_ENST00000380924.1_Frame_Shift_Del_p.S48fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.S300fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.S326fs|NFIB_ENST00000543693.1_Frame_Shift_Del_p.S48fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.S300fs NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 300 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) CCATGTTCGACTTCCAGCAGC 0.413 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 18 32 --- --- --- --- LOC403323 403323 broad.mit.edu 37 9 66545695 66545695 + RNA DEL A A - TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:66545695delA ENST00000445604.2 - 0 669 CTGTAAGAGGAAAAAAAAACA 0.373 4 2 --- --- --- --- TRPM6 140803 broad.mit.edu 37 9 77455061 77455062 + Frame_Shift_Del DEL TG TG - rs121912625 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:77455061_77455062delTG ENST00000451710.3 - 5 659_660 c.422_423delCA c.(421-423)tfs p.S141fs TRPM6_ENST00000376872.3_Frame_Shift_Del_p.S141fs|TRPM6_ENST00000449912.2_Frame_Shift_Del_p.S136fs|TRPM6_ENST00000376864.4_Frame_Shift_Del_p.S141fs|TRPM6_ENST00000376871.3_Frame_Shift_Del_p.S141fs|TRPM6_ENST00000361255.3_Frame_Shift_Del_p.S136fs|TRPM6_ENST00000360774.1_Frame_Shift_Del_p.S141fs|TRPM6_ENST00000359047.2_Frame_Shift_Del_p.S141fs Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 141 S -> L (in HOMG1; impairs heterodimer formation resulting in intracellular retention). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CCCCATGGACTGAGATCACAAG 0.391 11 22 --- --- --- --- PRPF40B 25766 broad.mit.edu 37 12 50025257 50025258 + Frame_Shift_Ins INS - - C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:50025257_50025258insC ENST00000261897.1 + 2 625_626 c.74_75insC c.(73-75)accfs p.T25fs PRPF40B_ENST00000548825.2_Frame_Shift_Ins_p.T53fs|PRPF40B_ENST00000380281.1_Frame_Shift_Ins_p.T31fs Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 31 Pro-rich. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCACCAGCTATCCCCCCCATGC 0.604 18 72 --- --- --- --- BLM 641 broad.mit.edu 37 15 91304286 91304288 + In_Frame_Del DEL TGA TGA - TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:91304286_91304288delTGA ENST00000355112.3 + 7 1801_1803 c.1683_1685delTGA c.(1681-1686)ttt>tt p.FD561del BLM_ENST00000560509.1_In_Frame_Del_p.FD561del NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 561 Poly-Asp. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TAGATGACTTTGATGATGATGAT 0.374 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 7 968 --- --- --- --- LRRK1 79705 broad.mit.edu 37 15 101562697 101562697 + Frame_Shift_Del DEL C C - TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:101562697delC ENST00000284395.5 + 16 2353 c.1953delC c.(1951-1953)ctfs p.L652fs LRRK1_ENST00000388948.3_Frame_Shift_Del_p.L655fs Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 655 Roc. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGTCCACCCTCCTGGAGATCT 0.622 15 91 --- --- --- --- HIPK4 147746 broad.mit.edu 37 19 40886647 40886649 + In_Frame_Del DEL CTC CTC - TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:40886647_40886649delCTC ENST00000291823.2 - 3 1533_1535 c.1249_1251delGAG c.(1249-1251)del p.E417del NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 417 cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CTGGTGCCTTCTCCTCTCGGAAG 0.626 17 57 --- --- --- --- IGLV3-12 28802 broad.mit.edu 37 22 23114749 23114749 + RNA DEL T T - rs74864698 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:23114749delT ENST00000390313.2 + 0 55 CATCCTCTCCTTTTTTTTTTT 0.498 4 7 --- --- --- ---