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 TAAR9 134860 broad.mit.edu 37 6 132859788 132859788 + RNA SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr6:132859788A>T ENST00000434551.1 + 0 360 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) TTGCTTCTTTATTTCATTTAT 0.403000 5 177 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49189874 49189874 + Nonstop_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:49189874A>T ENST00000406846.2 - 10 2205 c.2086T>A c.(2086-2088)Taa>Aaa p.*696K FSHR_ENST00000304421.4_Nonstop_Mutation_p.*670K|FSHR_ENST00000541117.1_Nonstop_Mutation_p.*432K|FSHR_ENST00000346173.3_Nonstop_Mutation_p.*634K NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 0 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ATTGTGTTTTAGTTTTGGGCT 0.423000 Gonadal Dysgenesis, 46 XX 5 141 0 0 1 0 0 IGFBP5 3488 broad.mit.edu 37 2 217541537 217541537 + Silent SNP T T C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:217541537T>C ENST00000233813.4 - 4 1505 c.756A>G c.(754-756)ccA>ccG p.P252P NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 252 Thyroglobulin type-1. negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTCCATGCCTGGCAGCTTCA 0.607000 4 365 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57957964 57957964 + Missense_Mutation SNP C C G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:57957964C>G ENST00000455537.2 + 4 639 c.365C>G c.(364-366)tCc>tGc p.S122C KIF5A_ENST00000286452.5_Intron NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 122 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CACATCTACTCCATGGATGAG 0.517000 3 95 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20990695 20990695 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:20990695C>T ENST00000261383.3 - 50 8032 c.8033G>A c.(8032-8034)cGc>cAc p.R2678H DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2678 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGTCAGGTAGCGGTTCCTCAT 0.512000 4 89 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48511101 48511101 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:48511101A>T ENST00000446524.1 + 1 833 c.757A>T c.(757-759)Att>Ttt p.I253F NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TGTTCCTTGTATTTTTATGTA 0.428000 6 649 0 0 1 0 0 CCDC91 55297 broad.mit.edu 37 12 28458580 28458580 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:28458580A>T ENST00000545336.1 + 7 528 c.e7-1 CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) GTTTTTCTTTAGTATCTGGAG 0.393000 7 359 0 0 1 0 0 SOS2 6655 broad.mit.edu 37 14 50626628 50626628 + Missense_Mutation SNP T T C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr14:50626628T>C ENST00000216373.5 - 10 1647 c.1373A>G c.(1372-1374)cAt>cGt p.H458R SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.H425R NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 458 PH. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) CAGAAAAATATGCCGTTCATG 0.388000 90 140 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81190482 81190482 + RNA SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:81190482G>A ENST00000533478.1 - 0 2162 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GATCCTGAGCGTCCTTCCTCC 0.547000 13 19 0 0 1 0 0 PTPDC1 138639 broad.mit.edu 37 9 96857602 96857602 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr9:96857602A>T ENST00000375360.3 + 6 798 c.458A>T c.(457-459)tAc>tTc p.Y153F PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y205F NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 153 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 TTCCTAGTTTACTTCTACAAT 0.353000 4 155 0 0 1 0 0 SOAT1 6646 broad.mit.edu 37 1 179319429 179319429 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:179319429A>T ENST00000367619.3 + 14 1457 c.e14-1 SOAT1_ENST00000539888.1_Splice_Site|SOAT1_ENST00000535686.1_Splice_Site|SOAT1_ENST00000540564.1_Splice_Site NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) CTTTTTCTTTAGTTTTTCTCC 0.333000 4 114 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 3 31 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57140052 57140052 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:57140052A>T ENST00000371244.4 + 2 160 c.e2-1 NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TCTTTTCTTTAGTTGGAGAAC 0.313000 7 108 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179429763 179429763 + Silent SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:179429763A>T ENST00000589042.1 - 326 81320 c.81096T>A c.(81094-81096)atT>atA p.I27032I TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.I17967I|TTN_ENST00000591111.1_Silent_p.I25391I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.I18092I|TTN_ENST00000342992.6_Silent_p.I24464I|TTN_ENST00000342175.6_Silent_p.I18159I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25391 Fibronectin type-III 97. 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) TGGTTATTTTAATTGTTGTTC 0.413000 4 147 0 0 1 0 0 OR4D1 26689 broad.mit.edu 37 17 56232613 56232613 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:56232613A>T ENST00000268912.5 + 1 120 c.99A>T c.(97-99)ttA>ttT p.L33F NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 TGTTCCTGTTAGTCTATGTTA 0.458000 8 464 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113915654 113915654 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr10:113915654A>T ENST00000348367.4 - 20 2476 c.2279T>A c.(2278-2280)aTa>aAa p.I760K GPAM_ENST00000423155.1_Missense_Mutation_p.I760K|GPAM_ENST00000369425.1_3'UTR Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 760 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) TGTTCTGGTTATTAGGTATTT 0.353000 4 102 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41142841 41142841 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr21:41142841A>T ENST00000380588.4 + 4 521 c.e4-1 IGSF5_ENST00000479378.1_Splice_Site NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) TTTCTTCTTTAGTTATGGGAG 0.388000 4 132 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17595443 17595443 + Missense_Mutation SNP T T C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr20:17595443T>C ENST00000377813.1 - 24 4436 c.4133A>G c.(4132-4134)cAg>cGg p.Q1378R RRBP1_ENST00000377807.2_Missense_Mutation_p.Q945R|RRBP1_ENST00000455029.2_Missense_Mutation_p.Q719R|RRBP1_ENST00000360807.4_Missense_Mutation_p.Q945R|RRBP1_ENST00000246043.4_Missense_Mutation_p.Q1378R|RRBP1_ENST00000468428.1_5'UTR Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1378 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 CAGCTGCTCCTGGGTCGTCTT 0.582000 3 48 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106109045 106109045 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chrX:106109045A>T ENST00000357242.5 + 16 2618 c.2444A>T c.(2443-2445)tAt>tTt p.Y815F TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 815 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTATCTTGTTATTGGTGTTTG 0.343000 5 142 0 0 1 0 0 TFIP11 24144 broad.mit.edu 37 22 26888109 26888109 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr22:26888109C>T ENST00000407690.1 - 15 2667 c.2384G>A c.(2383-2385)cGa>cAa p.R795Q TFIP11_ENST00000407431.1_Missense_Mutation_p.R795Q|TFIP11_ENST00000407148.1_Missense_Mutation_p.R795Q|TFIP11_ENST00000405938.1_Missense_Mutation_p.R795Q NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 795 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 CCCTTCGTGTCGCTTCCCAAT 0.557000 4 80 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27215757 27215757 + Missense_Mutation SNP T T C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr6:27215757T>C ENST00000230582.3 + 2 182 c.167T>C c.(166-168)cTc>cCc p.L56P PRSS16_ENST00000421826.2_Missense_Mutation_p.L56P NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 56 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GCTGCAGCCCTCCCAAAAGTG 0.632000 3 118 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47777146 47777146 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr18:47777146A>T ENST00000398545.4 - 5 1095 c.978T>A c.(976-978)gaT>gaA p.D326E NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 326 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) GTTTCTTTTTATCTGCCTCTT 0.423000 9 568 0 0 1 0 0 SENP2 59343 broad.mit.edu 37 3 185324122 185324122 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:185324122A>T ENST00000296257.5 + 6 694 c.454A>T c.(454-456)Act>Tct p.T152S SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.T142S|SENP2_ENST00000427465.2_5'UTR NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 152 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) GCTCAGTTTTACTTTGAACTC 0.413000 4 87 0 0 1 0 0 PSMD1 5707 broad.mit.edu 37 2 232035330 232035330 + Silent SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:232035330G>A ENST00000308696.6 + 24 2928 c.2766G>A c.(2764-2766)gaG>gaA p.E922E PSMD1_ENST00000409643.1_Silent_p.E891E|PSMD1_ENST00000373635.4_Silent_p.E891E NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 922 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) AAGACATTGAGGAGCTGGTGG 0.493000 3 104 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109378555 109378555 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:109378555A>T ENST00000283195.6 + 19 2728 c.e19-1 NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TTGTTTTTTTAGTTGCAACTA 0.333000 4 82 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13603058 13603058 + Silent SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr4:13603058C>T ENST00000040738.5 - 10 5601 c.5466G>A c.(5464-5466)tcG>tcA p.S1822S NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1822 DNA binding CATTTTCTTCCGATTCAGAAC 0.488000 4 201 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39757017 39757017 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:39757017T>A ENST00000395670.3 - 7 1323 c.e7-2 KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site Q7Z4S6 KI21A_HUMAN kinesin family member 21A microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) AAGTGCCAACTAAAAGAAAGA 0.333000 5 147 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129907060 129907060 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr10:129907060A>T ENST00000368654.3 - 13 3419 c.3044T>A c.(3043-3045)aTa>aAa p.I1015K MKI67_ENST00000368653.3_Missense_Mutation_p.I655K NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1015 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGGGGTGTTTATTGGTTCTGG 0.483000 8 535 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120331379 120331379 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:120331379A>T ENST00000397843.2 + 27 2693 c.e27-1 ARHGEF12_ENST00000532993.1_Splice_Site|ARHGEF12_ENST00000356641.3_Splice_Site NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TTTTATCTTTAGTTGGATTGA 0.323000 T MLL AML 6 174 0 0 1 0 0 ANO10 55129 broad.mit.edu 37 3 43642047 43642047 + Silent SNP A A G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:43642047A>G ENST00000292246.3 - 3 336 c.166T>C c.(166-168)Tta>Cta p.L56L ANO10_ENST00000350459.4_Silent_p.L56L|ANO10_ENST00000396091.3_Intron|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000414522.2_Silent_p.L56L NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 56 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 TATTTATTTAACAATGGTCTA 0.318000 4 149 0 0 1 0 0 PDK3 5165 broad.mit.edu 37 X 24516944 24516944 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chrX:24516944A>T ENST00000441463.2 + 3 248 c.e3-1 PDK3_ENST00000379162.4_Splice_Site|PDK3_ENST00000493226.1_Splice_Site NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 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 TTTTCCTTTTAGGTATATGCA 0.383000 3 16 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77376913 77376913 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr9:77376913A>T ENST00000451710.3 - 26 4910 c.e26+1 TRPM6_ENST00000360774.1_Splice_Site|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000376872.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 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 TTTATTCCTTACTTTTAATCT 0.343000 4 63 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43650987 43650987 + Missense_Mutation SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:43650987T>A ENST00000372492.4 + 5 1253 c.929T>A c.(928-930)aTg>aAg p.M310K WDR65_ENST00000528956.1_Missense_Mutation_p.M310K NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 310 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTTGAGAAGATGGAAGAAAAG 0.478000 5 142 0 0 1 0 0 CCDC18 343099 broad.mit.edu 37 1 93649533 93649533 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:93649533A>T ENST00000343253.7 + 3 636 c.e3-1 CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TTTTTTCTCTAGTGTTAGTCC 0.328000 7 153 0 0 1 0 0 GSTCD 79807 broad.mit.edu 37 4 106640215 106640215 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr4:106640215A>T ENST00000515279.1 + 3 646 c.e3-1 GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing cytoplasm rRNA methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) TTTGTTTTGTAGGTTAGTCAG 0.338000 6 114 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281389 152281389 + Silent SNP C C T rs138652718 byFrequency TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:152281389C>T ENST00000368799.1 - 3 6008 c.5973G>A c.(5971-5973)gcG>gcA p.A1991A FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1991 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGGGATGACGCAGCCTGTC 0.572000 Ichthyosis 5 638 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35547238 35547238 + Silent SNP T T C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr9:35547238T>C ENST00000455600.1 + 2 1289 c.720T>C c.(718-720)ccT>ccC p.P240P NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 240 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CAAGGAACCCTGGATGCTCCG 0.597000 3 104 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47958144 47958144 + Silent SNP A A G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:47958144A>G ENST00000426837.2 - 8 1311 c.1224T>C c.(1222-1224)gcT>gcC p.A408A MAP4_ENST00000360240.6_Silent_p.A391A|MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000383737.4_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 391 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.A391A(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CCTTGGAAGGAGCCAAGTCCA 0.443000 4 277 0 0 1 0 0 RALGPS2 55103 broad.mit.edu 37 1 178802557 178802557 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:178802557A>T ENST00000367635.3 + 8 818 c.e8-1 RALGPS2_ENST00000324778.4_Splice_Site|RALGPS2_ENST00000367634.2_Splice_Site NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TTTGTTTTTTAGTTATTAAGT 0.259000 4 42 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50007990 50007990 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr20:50007990T>A ENST00000371564.3 - 11 3030 c.e11-2 NFATC2_ENST00000414705.1_Splice_Site|NFATC2_ENST00000396009.3_Splice_Site NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TTTCATTAACTACAAAAGAAA 0.458000 5 182 0 0 1 0 0 CKAP2L 150468 broad.mit.edu 37 2 113500345 113500345 + Splice_Site SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:113500345G>A ENST00000541405.1 - 7 1788 c.1263_splice c.e7-1 p.P422_splice NT5DC4_ENST00000327581.4_3'UTR|CKAP2L_ENST00000302450.6_Splice_Site_p.P587_splice Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 587 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 CTCTTGTATTGGCTGGAAGGA 0.294000 3 32 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104836767 104836767 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr10:104836767C>T ENST00000369878.3 + 8 2582 c.2458C>T c.(2458-2460)Cgg>Tgg p.R820W CNNM2_ENST00000457502.2_Missense_Mutation_p.R578W|CNNM2_ENST00000433628.2_Missense_Mutation_p.R798W|CNNM2_ENST00000475511.1_3'UTR NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 820 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GATGGCATCCCGGATGGACAA 0.463000 6 96 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69093688 69093688 + Missense_Mutation SNP G G A rs141935259 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:69093688G>A ENST00000295379.1 - 2 508 c.350C>T c.(349-351)cCg>cTg p.P117L NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 117 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding p.P117L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 AAAACTGACCGGCTGGGAAAA 0.428000 21 26 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100536765 100536765 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chrX:100536765T>A ENST00000372907.3 - 6 676 c.e6-2 TAF7L_ENST00000324762.6_Splice_Site|TAF7L_ENST00000356784.1_Splice_Site|TAF7L_ENST00000372905.2_Splice_Site NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GTGGCGTAACTAAAATAAATA 0.373000 4 65 0 0 1 0 0 COG3 83548 broad.mit.edu 37 13 46054373 46054373 + Missense_Mutation SNP C C A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr13:46054373C>A ENST00000349995.5 + 4 609 c.497C>A c.(496-498)tCc>tAc p.S166Y NM_031431.3 NP_113619.2 Q96JB2 COG3_HUMAN component of oligomeric golgi complex 3 166 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1) 24 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) CTTTTTGTGTCCAATAAGACA 0.378000 3 67 0.115264 0.116087 1 1 0 OSBPL3 26031 broad.mit.edu 37 7 24854824 24854824 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr7:24854824T>A ENST00000313367.2 - 19 2479 c.e19-2 OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TCCCCAAAACTAAAAAGAAGG 0.378000 7 132 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61654168 61654168 + Silent SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr8:61654168T>A ENST00000423902.2 + 2 656 c.177T>A c.(175-177)acT>acA p.T59T CHD7_ENST00000525508.1_Silent_p.T59T|CHD7_ENST00000524602.1_Silent_p.T59T NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 59 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ATCCTTCAACTAATCAAAATC 0.398000 3 44 0 0 1 0 0 TBC1D23 55773 broad.mit.edu 37 3 100016854 100016854 + Missense_Mutation SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:100016854G>A ENST00000394144.4 + 9 971 c.964G>A c.(964-966)Gtg>Atg p.V322M TBC1D23_ENST00000475134.1_Missense_Mutation_p.V185M|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.V322M NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 322 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 GGCCATCTCCGTGTCAGAGAT 0.433000 3 58 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220307861 220307861 + Missense_Mutation SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:220307861G>A ENST00000396698.1 + 2 71 c.65G>A c.(64-66)cGa>cAa p.R22Q SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000312358.7_Intron Q15772 SPEG_HUMAN SPEG complex locus 0 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCCTTTGGCCGACTCACCCAT 0.587000 130 159 0 0 1 0 0 PDP2 57546 broad.mit.edu 37 16 66919031 66919031 + Missense_Mutation SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:66919031G>A ENST00000311765.2 + 2 1178 c.844G>A c.(844-846)Gca>Aca p.A282T PDP2_ENST00000568720.1_Intron NM_020786.2 NP_065837.1 Q9P2J9 PDP2_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 2 282 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) CTTGCACGTGGCAAATGCTGG 0.552000 3 104 0 0 1 0 0 TOPORS 10210 broad.mit.edu 37 9 32541886 32541886 + Silent SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr9:32541886A>T ENST00000360538.2 - 3 2753 c.2637T>A c.(2635-2637)acT>acA p.T879T TOPORS_ENST00000379858.1_Silent_p.T814T NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 879 Interaction with TOP1.|Interaction with UBE2I.|Lys-rich. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) tATGGTGTTTAGTTGTATCAG 0.383000 5 281 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122551440 122551440 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chrX:122551440A>T ENST00000264357.5 + 11 1980 c.1688A>T c.(1687-1689)tAc>tTc p.Y563F GRIA3_ENST00000542149.1_Missense_Mutation_p.Y563F|GRIA3_ENST00000541091.1_Missense_Mutation_p.Y547F|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y563F|GRIA3_ENST00000371251.1_Missense_Mutation_p.Y563F NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 563 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) GTCTTTGCTTACATTGGAGTC 0.433000 5 321 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98204341 98204341 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr5:98204341T>A ENST00000284049.3 - 30 4257 c.e30-2 CHD1_ENST00000511067.1_Splice_Site NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TTCACTCAACTAAAGAAAAAG 0.368000 4 134 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40123308 40123308 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr4:40123308A>T ENST00000261435.6 + 9 3993 c.3577A>T c.(3577-3579)Act>Tct p.T1193S NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 1193 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 CTCACAGTCTACTTGTGATGC 0.423000 4 150 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418477 55418477 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:55418477A>T ENST00000312422.2 + 1 98 c.98A>T c.(97-99)tAc>tTc p.Y33F NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TCTTTCTTCTACATAATCATT 0.378000 5 269 0 0 1 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74622001 74622001 + Splice_Site SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:74622001C>T ENST00000156626.7 - 8 1705 c.e8-1 NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 CCTCAGAAACCTGTGAAATGC 0.567000 3 97 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47165938 47165938 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:47165938T>A ENST00000562435.1 - 2 419 c.e2-2 NETO2_ENST00000303155.5_Splice_Site NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TTAACAACACTAGAGAAATAA 0.313000 HNSCC(25;0.065) 5 201 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345072 20345072 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr14:20345072A>T ENST00000298642.2 + 1 682 c.646A>T c.(646-648)Aat>Tat p.N216Y NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTTTTATTTAATTCATATGT 0.383000 7 384 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510502 169510502 + Missense_Mutation SNP G G T rs140018525 byFrequency TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:169510502G>T ENST00000367796.3 - 13 4042 c.3841C>A c.(3841-3843)Ctt>Att p.L1281I F5_ENST00000367797.3_Missense_Mutation_p.L1276I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1276 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTGGAGAAAGGGGCATCTGA 0.502000 5 609 0.0293803 0.0298031 1 1 0 ALPK2 115701 broad.mit.edu 37 18 56247390 56247390 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr18:56247390A>T ENST00000361673.3 - 4 831 c.618T>A c.(616-618)agT>agA p.S206R NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 206 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTTCTGTGTTACTTGGATCAT 0.403000 7 239 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173523950 173523950 + Missense_Mutation SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:173523950T>A ENST00000367714.3 - 11 1641 c.1219A>T c.(1219-1221)Ata>Tta p.I407L SLC9C2_ENST00000466087.1_Intron|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I305L NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 407 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ACATAGAGTATAAACTAAAAA 0.294000 6 146 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20552448 20552448 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr4:20552448A>T ENST00000504154.1 + 25 2741 c.e25-1 SLIT2_ENST00000509394.2_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TCTTTCTTTTAGTTCTCTACA 0.313000 7 80 0 0 1 0 0 C2CD2L 9854 broad.mit.edu 37 11 118981555 118981555 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:118981555A>T ENST00000336702.3 + 4 929 c.e4-1 NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 TCCTGTCTGTAGTTGGAAGTC 0.527000 5 310 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71129001 71129001 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr8:71129001T>A ENST00000452400.2 - 3 163 c.e3-2 NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TATCAGCAACTAAAACAGAAA 0.408000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 5 115 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274371 39274371 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:39274371C>T ENST00000391413.2 - 1 235 c.197G>A c.(196-198)cGc>cAc p.R66H NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 66 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCATCTGGGGCGGCAGCAGGT 0.657000 3 26 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88890125 88890125 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:88890125T>A ENST00000303236.3 - 6 1304 c.e6-2 EIF2AK3_ENST00000419748.1_Splice_Site NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 AGTACAAAACTAAACAAAAAT 0.303000 4 55 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223163965 223163965 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:223163965A>T ENST00000284476.6 + 4 703 c.e4-1 DISP1_ENST00000495684.1_Splice_Site NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TGTGTTTTGTAGTTATGCAGC 0.478000 5 203 0 0 1 0 0 VPS8 23355 broad.mit.edu 37 3 184570286 184570286 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:184570286A>T ENST00000287546.4 + 10 924 c.e10-1 VPS8_ENST00000437079.3_Splice_Site|VPS8_ENST00000446204.2_Splice_Site|VPS8_ENST00000436792.2_Splice_Site NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TTCTCTGTTTAGTTTACAGAT 0.299000 5 93 0 0 1 0 0 PREP 5550 broad.mit.edu 37 6 105800954 105800954 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr6:105800954T>A ENST00000369110.3 - 7 910 c.e7-2 NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) ATCAGATAACTAAAAAAGAAA 0.343000 8 95 0 0 1 0 0 DAW1 164781 broad.mit.edu 37 2 228771852 228771852 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:228771852A>T ENST00000373666.2 + 10 1494 c.e10-1 DAW1_ENST00000545118.1_Splice_Site|DAW1_ENST00000309931.2_Splice_Site dynein assembly factor with WDR repeat domains 1 TTTTAATTGTAGCTGTGGGAT 0.378000 4 136 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46760614 46760614 + Silent SNP A A G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:46760614A>G ENST00000311907.5 + 13 1727 c.1671A>G c.(1669-1671)gaA>gaG p.E557E F2_ENST00000530231.1_Silent_p.E518E NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 557 High affinity receptor-binding region which is also known as the TP508 peptide.|Peptidase S1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity p.E557E(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) AGCCTGATGAAGGGAAACGAG 0.552000 3 181 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136481505 136481505 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:136481505A>T ENST00000264160.4 + 26 3314 c.e26-1 R3HDM1_ENST00000410054.1_Splice_Site|R3HDM1_ENST00000409606.1_Splice_Site|R3HDM1_ENST00000329971.3_Splice_Site|R3HDM1_ENST00000409478.1_Splice_Site NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) TTTCTATTCTAGTTGTTGGGA 0.388000 4 84 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41566408 41566408 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr22:41566408A>T ENST00000263253.7 + 27 5505 c.e27-1 RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TTGTATTGTTAGTTACACAAC 0.383000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 4 117 0 0 1 0 0 DCAF17 80067 broad.mit.edu 37 2 172314880 172314880 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:172314880A>T ENST00000375255.3 + 8 1059 c.e8-1 DCAF17_ENST00000468592.1_Intron|DCAF17_ENST00000539783.1_Splice_Site NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 TTTTGTTTTTAGTTCATGCAA 0.358000 12 136 0 0 1 0 0 HMGN2P46 283651 broad.mit.edu 37 15 45848217 45848217 + RNA SNP A A G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr15:45848217A>G ENST00000409454.1 + 0 1212 ATAAAAATGCAGATTTTGTTT 0.313000 3 41 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183495733 183495733 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:183495733A>T ENST00000367537.3 + 6 597 c.402A>T c.(400-402)ttA>ttT p.L134F SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 105 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TCTTTTAGTTATTACAAGAAC 0.348000 4 143 0 0 1 0 0 MSMP 692094 broad.mit.edu 37 9 35753222 35753222 + Missense_Mutation SNP T T G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr9:35753222T>G ENST00000436428.2 - 3 434 c.295A>C c.(295-297)Acc>Ccc p.T99P RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_5'UTR NM_001044264.2 NP_001037729.1 Q1L6U9 MSMP_HUMAN microseminoprotein, prostate associated 99 extracellular region endometrium(2)|kidney(1)|lung(3)|prostate(3) 9 AACTGGCAGGTTCCTGCCTCC 0.607000 9 38 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20482856 20482856 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:20482856A>T ENST00000573854.1 + 6 854 c.e6-1 ACSM2A_ENST00000575690.1_Splice_Site|ACSM2A_ENST00000575558.1_Splice_Site|ACSM2A_ENST00000396104.2_Splice_Site|ACSM2A_ENST00000536134.1_Splice_Site|ACSM2A_ENST00000417235.2_Splice_Site|ACSM2A_ENST00000219054.6_Splice_Site NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 CTGTGTTTTCAGTTGGACAGG 0.483000 6 295 0 0 1 0 0 TAS2R3 50831 broad.mit.edu 37 7 141464695 141464695 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr7:141464695A>T ENST00000247879.2 + 1 799 c.737A>T c.(736-738)tAc>tTc p.Y246F SSBP1_ENST00000465582.1_Intron NM_016943.2 NP_058639.1 Q9NYW6 TA2R3_HUMAN taste receptor, type 2, member 3 246 sensory perception of taste taste receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14 Melanoma(164;0.0171) ttcttactttactttcttgct 0.418000 8 185 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92733627 92733627 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr7:92733627A>T ENST00000379958.2 - 3 2053 c.1784T>A c.(1783-1785)aTa>aAa p.I595K NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 595 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTGGTGTTTTATTAATCTTGC 0.353000 4 86 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149500430 149500430 + RNA SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr7:149500430T>A ENST00000378016.2 + 0 7956 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTGGGCATTGTGTGGAAGGTG 0.652000 2 0 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 23 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179614538 179614538 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:179614538C>T ENST00000360870.5 - 46 12811 c.12589G>A c.(12589-12591)Gtc>Atc p.V4197I TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3541 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) TTTAAAAGGACTCCATTTTGA 0.363000 3 83 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112363128 112363128 + Silent SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr5:112363128C>T ENST00000302475.4 - 17 2924 c.2361G>A c.(2359-2361)ctG>ctA p.L787L MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.L724L|MCC_ENST00000408903.3_Silent_p.L977L NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 787 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CTAACTTCTTCAGTTTGTTTT 0.448000 4 235 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32833840 32833840 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr22:32833840T>A ENST00000397452.1 - 8 766 c.e8-2 BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site Q8NFQ6 BPIL2_HUMAN BPI fold containing family C extracellular region lipopolysaccharide binding|phospholipid binding TGGTTAAAACTAAATAACCAA 0.303000 4 72 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99689497 99689497 + Missense_Mutation SNP T T C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:99689497T>C ENST00000393483.3 - 13 1766 c.922A>G c.(922-924)Atg>Gtg p.M308V TSGA10_ENST00000410001.1_Missense_Mutation_p.M308V|TSGA10_ENST00000539964.1_Missense_Mutation_p.M308V|TSGA10_ENST00000542655.1_Intron|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.M308V NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 308 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 GCCTGTTCCATCTCAGCAATG 0.338000 4 162 0 0 1 0 0 PKD2 5311 broad.mit.edu 37 4 88967931 88967931 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr4:88967931A>T ENST00000237596.2 + 6 1523 c.1457A>T c.(1456-1458)tAc>tTc p.Y486F PKD2_ENST00000508588.1_Intron NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 486 basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) TTTATCTTTTACTATGTGGTG 0.383000 7 215 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184966307 184966307 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:184966307T>A ENST00000231887.3 - 2 150 c.e2-2 EHHADH_ENST00000440662.1_Splice_Site|EHHADH_ENST00000456310.1_Splice_Site|EHHADH_ENST00000475987.1_Splice_Site NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) AAAGTCGTACTAAAAGAAAAC 0.323000 4 71 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47754527 47754527 + Missense_Mutation SNP A A G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr21:47754527A>G ENST00000359568.5 + 3 591 c.484A>G c.(484-486)Agt>Ggt p.S162G PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 162 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTTCACAGTCAGTGACCACCC 0.552000 6 246 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109689490 109689490 + Silent SNP A A C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr9:109689490A>C ENST00000277225.5 + 3 3586 c.3297A>C c.(3295-3297)ccA>ccC p.P1099P ZNF462_ENST00000457913.1_Silent_p.P1099P Q96JM2 ZN462_HUMAN zinc finger protein 462 1099 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P1099P(1) NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TGGGTTCCCCACCCCCCCCAC 0.532000 4 57 0 0 1 0 0 CCDC58 131076 broad.mit.edu 37 3 122087171 122087171 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:122087171T>A ENST00000291458.5 - 3 184 c.e3-2 CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000479899.1_Splice_Site NM_001017928.2 NP_001017928.1 Q4VC31 CCD58_HUMAN coiled-coil domain containing 58 large_intestine(1)|lung(1) 2 GBM - Glioblastoma multiforme(114;0.148) TGCCATCAACTAAAAGAACAA 0.328000 5 73 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22826356 22826356 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:22826356C>T ENST00000261374.3 + 1 859 c.425C>T c.(424-426)gCc>gTc p.A142V NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 142 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GACGTGCGGGCCTTGGGCACG 0.647000 14 24 0 0 1 0 0 NMRK1 54981 broad.mit.edu 37 9 77684818 77684818 + Missense_Mutation SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr9:77684818T>A ENST00000376811.1 - 6 784 c.322A>T c.(322-324)Aat>Tat p.N108Y NMRK1_ENST00000376808.4_Missense_Mutation_p.N104Y|NMRK1_ENST00000361092.4_Missense_Mutation_p.N104Y Q9NWW6 NRK1_HUMAN nicotinamide riboside kinase 1 104 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|ribosylnicotinamide kinase activity TACTTATAATTAAAAAGAAGA 0.408000 4 114 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058043 152058043 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:152058043A>T ENST00000368806.1 - 3 2179 c.2115T>A c.(2113-2115)agT>agA p.S705R NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 705 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CTTCTTTGCTACTTGGGCCTT 0.458000 6 394 0 0 1 0 0 NPL 80896 broad.mit.edu 37 1 182794914 182794914 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:182794914A>T ENST00000367554.3 + 10 999 c.e10-1 NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000367552.2_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000463899.1_Splice_Site|NPL_ENST00000367553.1_Splice_Site NM_001200050.1 NP_001186979.1 Q9BXD5 NPL_HUMAN N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) carbohydrate metabolic process cytoplasm N-acetylneuraminate lyase activity breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1) 15 GTTCTTTTCTAGTTTTGTATC 0.338000 6 203 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86548534 86548534 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr7:86548534A>T ENST00000450689.2 - 11 1676 c.e11+1 KIAA1324L_ENST00000444627.1_Splice_Site|KIAA1324L_ENST00000416314.1_Splice_Site|KIAA1324L_ENST00000490995.1_Splice_Site|KIAA1324L_ENST00000297222.6_Splice_Site NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TGTTTTCCTTACTTAAATCCT 0.383000 4 92 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 33836390 33836390 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr14:33836390A>T ENST00000548645.1 + 3 340 c.e3-1 NPAS3_ENST00000356141.4_Splice_Site|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000357798.5_Splice_Site Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) TTTTCTTTTAAGTTATAGGTG 0.368000 4 35 0 0 1 0 0 RSBN1 54665 broad.mit.edu 37 1 114340601 114340601 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:114340601A>T ENST00000261441.5 - 2 824 c.761T>A c.(760-762)aTa>aAa p.I254K NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 254 Poly-Lys. nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTCTTCTTTATTTTCTTCAA 0.403000 7 332 0 0 1 0 0 ELOVL5 60481 broad.mit.edu 37 6 53141056 53141056 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr6:53141056T>A ENST00000542638.1 - 4 694 c.e4-2 ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site Q9NYP7 ELOV5_HUMAN ELOVL fatty acid elongase 5 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Lung NSC(77;0.116) TGTTACTAACTAAAAAAGAAG 0.413000 5 78 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57398156 57398156 + Nonsense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:57398156A>T ENST00000300101.2 - 2 631 c.546T>A c.(544-546)taT>taA p.Y182* NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 CTTCCTCTTTATAGCTCCCTC 0.562000 6 372 0 0 1 0 0 ASRGL1 80150 broad.mit.edu 37 11 62123795 62123795 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:62123795A>T ENST00000415229.2 + 3 405 c.e3-1 ASRGL1_ENST00000301776.5_Splice_Site|ASRGL1_ENST00000535727.1_Intron NM_001083926.1 NP_001077395.1 Q7L266 ASGL1_HUMAN asparaginase like 1 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) TTTTGGTTTTAGGTTGTGGGT 0.542000 4 114 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30384486 30384486 + Missense_Mutation SNP A A G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr22:30384486A>G ENST00000333027.3 + 6 556 c.228A>G c.(226-228)atA>atG p.I76M MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000406629.1_Missense_Mutation_p.I76M|MTMR3_ENST00000401950.2_Missense_Mutation_p.I76M|MTMR3_ENST00000415511.1_Intron|MTMR3_ENST00000351488.3_Missense_Mutation_p.I76M NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 76 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TACAGCTTATAGAAAGTGTTG 0.358000 56 69 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482593 140482593 + Missense_Mutation SNP C C A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr5:140482593C>A ENST00000231130.2 + 1 2360 c.2360C>A c.(2359-2361)cCc>cAc p.P787H NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 787 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGCAAATCCCAGTTTCAGG 0.453000 7 96 1.12685e-05 1.15975e-05 1 1 0 ATP1B4 23439 broad.mit.edu 37 X 119504588 119504588 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chrX:119504588A>T ENST00000218008.3 + 3 404 c.347A>T c.(346-348)tAc>tTc p.Y116F ATP1B4_ENST00000361319.3_Missense_Mutation_p.Y112F|ATP1B4_ENST00000539306.1_Intron NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 116 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 TTACTCATTTACTTCTTCTTC 0.483000 5 207 0 0 1 0 0 CCDC181 57821 broad.mit.edu 37 1 169390644 169390644 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:169390644A>T ENST00000545005.1 - 4 1532 c.1025T>A c.(1024-1026)cTa>cAa p.L342Q CCDC181_ENST00000367805.3_Missense_Mutation_p.L342Q|CCDC181_ENST00000367806.3_Missense_Mutation_p.L342Q|CCDC181_ENST00000491570.1_5'UTR coiled-coil domain containing 181 TTGTTTTTGTAGTTCTTTCTG 0.363000 4 185 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163044875 163044875 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:163044875T>A ENST00000188790.4 - 20 1827 c.e20-2 FAP_ENST00000443424.1_Splice_Site NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity p.?(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 CCACCATACCTAAAGGAAAAA 0.383000 5 107 0 0 1 0 0 TCF12 6938 broad.mit.edu 37 15 57355946 57355946 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr15:57355946A>T ENST00000267811.5 + 4 452 c.e4-1 TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000557843.1_Splice_Site NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) TTCTCTTTTTAGGTATTGATG 0.363000 T TEC extraskeletal myxoid chondrosarcoma 11 201 0 0 1 0 0 ANO10 55129 broad.mit.edu 37 3 43642047 43642047 + Silent SNP A A G TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:43642047A>G ENST00000292246.3 - 3 336 c.166T>C c.(166-168)Tta>Cta p.L56L ANO10_ENST00000451430.2_Intron|ANO10_ENST00000350459.4_Silent_p.L56L|ANO10_ENST00000414522.2_Silent_p.L56L|ANO10_ENST00000396091.3_Intron NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 56 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 TATTTATTTAACAATGGTCTA 0.318000 5 186 0 0 0.184627 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3859 3859 + Missense_Mutation SNP T T C TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chrM:3859T>C ENST00000361390.2 + 1 553 c.553T>C c.(553-555)Tga>Cga p.185_185insR mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 TGGCCATAATATGATTTATCT 0.478000 492 18 0 0 0.139131 0 0 SOS2 6655 broad.mit.edu 37 14 50626628 50626628 + Missense_Mutation SNP T T C TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr14:50626628T>C ENST00000216373.5 - 10 1647 c.1373A>G c.(1372-1374)cAt>cGt p.H458R SOS2_ENST00000543680.1_Missense_Mutation_p.H425R|SOS2_ENST00000555794.1_5'UTR NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 458 PH. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) CAGAAAAATATGCCGTTCATG 0.388000 154 204 0 0 0.139131 0 0 PKD1L2 114780 broad.mit.edu 37 16 81190482 81190482 + RNA SNP G G A TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:81190482G>A ENST00000525539.1 - 0 4106 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GATCCTGAGCGTCCTTCCTCC 0.547000 30 43 0 0 0.153744 0 0 PLA2G6 8398 broad.mit.edu 37 22 38536025 38536025 + Missense_Mutation SNP T T G TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr22:38536025T>G ENST00000332509.3 - 5 944 c.761A>C c.(760-762)tAc>tCc p.Y254S PLA2G6_ENST00000402064.1_Missense_Mutation_p.Y254S|PLA2G6_ENST00000335539.3_Missense_Mutation_p.Y254S NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 254 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane p.Y254S(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) GTGGATGGGGTAGCCGTTGGG 0.642000 6 14 0 0 0.132662 0 0 LZTS1 11178 broad.mit.edu 37 8 20107349 20107349 + Missense_Mutation SNP G G A rs146878421 TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr8:20107349G>A ENST00000381569.1 - 4 2032 c.1675C>T c.(1675-1677)Cgc>Tgc p.R559C LZTS1_ENST00000522290.1_Missense_Mutation_p.R500C|LZTS1_ENST00000265801.6_Missense_Mutation_p.R559C Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 559 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TTCTCCAGGCGCTGGTTCCGC 0.617000 15 220 0 0 0.175082 0 0 MTMR3 8897 broad.mit.edu 37 22 30384486 30384486 + Missense_Mutation SNP A A G TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr22:30384486A>G ENST00000333027.3 + 6 556 c.228A>G c.(226-228)atA>atG p.I76M MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000406629.1_Missense_Mutation_p.I76M|MTMR3_ENST00000415511.1_Intron|MTMR3_ENST00000401950.2_Missense_Mutation_p.I76M|MTMR3_ENST00000351488.3_Missense_Mutation_p.I76M NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 76 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TACAGCTTATAGAAAGTGTTG 0.358000 66 93 0 0 0.139131 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304869 102304869 + RNA SNP T T C rs139457262 by1000genomes TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr15:102304869T>C ENST00000561463.1 + 0 12915 GTCCAACCTGTACTCGCGTGG 0.572000 3 19 0 0 0.115264 0 0 BMP10 27302 broad.mit.edu 37 2 69093688 69093688 + Missense_Mutation SNP G G A rs141935259 TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:69093688G>A ENST00000295379.1 - 2 508 c.350C>T c.(349-351)cCg>cTg p.P117L NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 117 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding p.P117L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 AAAACTGACCGGCTGGGAAAA 0.428000 32 33 0 0 0.153744 0 0 HS3ST2 9956 broad.mit.edu 37 16 22826356 22826356 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:22826356C>T ENST00000261374.3 + 1 859 c.425C>T c.(424-426)gCc>gTc p.A142V NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 142 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GACGTGCGGGCCTTGGGCACG 0.647000 22 35 0 0 0.076483 0 0 GPS1 2873 broad.mit.edu 37 17 80014617 80014617 + Missense_Mutation SNP G G A TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:80014617G>A ENST00000392358.2 + 11 1698 c.1349G>A c.(1348-1350)aGt>aAt p.S450N GPS1_ENST00000578552.1_Missense_Mutation_p.S410N|GPS1_ENST00000306823.6_Missense_Mutation_p.S414N|GPS1_ENST00000320548.4_Missense_Mutation_p.S394N|GPS1_ENST00000355130.2_Missense_Mutation_p.S450N NM_212492.1 NP_997657.1 Q13098 CSN1_HUMAN G protein pathway suppressor 1 414 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GGGCTGATCAGTGCCCGTGTG 0.657000 4 30 0 0 0.150653 0 0 SPEG 10290 broad.mit.edu 37 2 220307861 220307861 + Missense_Mutation SNP G G A TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:220307861G>A ENST00000396698.1 + 2 71 c.65G>A c.(64-66)cGa>cAa p.R22Q SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000312358.7_Intron Q15772 SPEG_HUMAN SPEG complex locus 0 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCCTTTGGCCGACTCACCCAT 0.587000 147 248 0 0 0.139131 0 0 CHRM4 1132 broad.mit.edu 37 11 46407118 46407118 + Silent SNP C C T TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:46407118C>T ENST00000433765.2 - 1 989 c.990G>A c.(988-990)ccG>ccA p.P330P NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 330 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) TGAGGGCCCGCGGCTGCAGGG 0.637000 11 313 0 0 0.080935 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482593 140482593 + Missense_Mutation SNP C C A TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr5:140482593C>A ENST00000231130.2 + 1 2360 c.2360C>A c.(2359-2361)cCc>cAc p.P787H NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 787 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGCAAATCCCAGTTTCAGG 0.453000 14 196 2.23348e-06 3.19069e-06 0.146539 1 0 N4BP2 55728 broad.mit.edu 37 4 40123308 40123308 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr4:40123308A>T ENST00000261435.6 + 9 3993 c.3577A>T c.(3577-3579)Act>Tct p.T1193S NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 1193 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 CTCACAGTCTACTTGTGATGC 0.423000 4 150 0 0 1 0 0 ANO10 55129 broad.mit.edu 37 3 43642047 43642047 + Silent SNP A A G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr3:43642047A>G ENST00000292246.3 - 3 336 c.166T>C c.(166-168)Tta>Cta p.L56L ANO10_ENST00000350459.4_Silent_p.L56L|ANO10_ENST00000396091.3_Intron|ANO10_ENST00000414522.2_Silent_p.L56L|ANO10_ENST00000451430.2_Intron NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 56 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 TATTTATTTAACAATGGTCTA 0.318000 4 149 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20990695 20990695 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr16:20990695C>T ENST00000261383.3 - 50 8032 c.8033G>A c.(8032-8034)cGc>cAc p.R2678H DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2678 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGTCAGGTAGCGGTTCCTCAT 0.512000 4 89 0 0 1 0 0 TAAR9 134860 broad.mit.edu 37 6 132859788 132859788 + RNA SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr6:132859788A>T ENST00000434551.1 + 0 360 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) TTGCTTCTTTATTTCATTTAT 0.403000 5 177 0 0 1 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74622001 74622001 + Splice_Site SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr17:74622001C>T ENST00000156626.7 - 8 1705 c.e8-1 NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 CCTCAGAAACCTGTGAAATGC 0.567000 3 97 0 0 1 0 0 IGFBP5 3488 broad.mit.edu 37 2 217541537 217541537 + Silent SNP T T C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr2:217541537T>C ENST00000233813.4 - 4 1505 c.756A>G c.(754-756)ccA>ccG p.P252P NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 252 Thyroglobulin type-1. negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTCCATGCCTGGCAGCTTCA 0.607000 4 365 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43650987 43650987 + Missense_Mutation SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr1:43650987T>A ENST00000372492.4 + 5 1253 c.929T>A c.(928-930)aTg>aAg p.M310K WDR65_ENST00000528956.1_Missense_Mutation_p.M310K NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 310 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTTGAGAAGATGGAAGAAAAG 0.478000 5 142 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 5 134 0 0 1 0 0 SOS2 6655 broad.mit.edu 37 14 50626628 50626628 + Missense_Mutation SNP T T C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr14:50626628T>C ENST00000216373.5 - 10 1647 c.1373A>G c.(1372-1374)cAt>cGt p.H458R SOS2_ENST00000543680.1_Missense_Mutation_p.H425R|SOS2_ENST00000555794.1_5'UTR NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 458 PH. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) CAGAAAAATATGCCGTTCATG 0.388000 90 140 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81190482 81190482 + RNA SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr16:81190482G>A ENST00000533478.1 - 0 2162 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GATCCTGAGCGTCCTTCCTCC 0.547000 13 19 0 0 1 0 0 TRGV5 6978 broad.mit.edu 37 7 38389495 38389495 + RNA SNP C C A rs2012300 by1000genomes TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr7:38389495C>A ENST00000390344.2 - 0 128 CTTAAAACTCCGGCCCCACTC 0.542000 5 22 0.00198382 0.00210781 1 1 0 TTN 7273 broad.mit.edu 37 2 179614538 179614538 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr2:179614538C>T ENST00000360870.5 - 46 12811 c.12589G>A c.(12589-12591)Gtc>Atc p.V4197I TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3541 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) TTTAAAAGGACTCCATTTTGA 0.363000 3 83 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112363128 112363128 + Silent SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr5:112363128C>T ENST00000302475.4 - 17 2924 c.2361G>A c.(2359-2361)ctG>ctA p.L787L MCC_ENST00000515367.2_Silent_p.L724L|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.L977L NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 787 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CTAACTTCTTCAGTTTGTTTT 0.448000 4 235 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30384486 30384486 + Missense_Mutation SNP A A G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr22:30384486A>G ENST00000333027.3 + 6 556 c.228A>G c.(226-228)atA>atG p.I76M MTMR3_ENST00000406629.1_Missense_Mutation_p.I76M|MTMR3_ENST00000401950.2_Missense_Mutation_p.I76M|MTMR3_ENST00000415511.1_Intron|MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000351488.3_Missense_Mutation_p.I76M NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 76 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TACAGCTTATAGAAAGTGTTG 0.358000 56 69 0 0 1 0 0 CKAP2L 150468 broad.mit.edu 37 2 113500345 113500345 + Splice_Site SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr2:113500345G>A ENST00000541405.1 - 7 1788 c.1263_splice c.e7-1 p.P422_splice NT5DC4_ENST00000327581.4_3'UTR|CKAP2L_ENST00000302450.6_Splice_Site_p.P587_splice Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 587 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 CTCTTGTATTGGCTGGAAGGA 0.294000 3 32 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104836767 104836767 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr10:104836767C>T ENST00000369878.3 + 8 2582 c.2458C>T c.(2458-2460)Cgg>Tgg p.R820W CNNM2_ENST00000433628.2_Missense_Mutation_p.R798W|CNNM2_ENST00000457502.2_Missense_Mutation_p.R578W|CNNM2_ENST00000475511.1_3'UTR NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 820 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GATGGCATCCCGGATGGACAA 0.463000 6 96 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57957964 57957964 + Missense_Mutation SNP C C G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr12:57957964C>G ENST00000455537.2 + 4 639 c.365C>G c.(364-366)tCc>tGc p.S122C KIF5A_ENST00000286452.5_Intron NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 122 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CACATCTACTCCATGGATGAG 0.517000 3 95 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69093688 69093688 + Missense_Mutation SNP G G A rs141935259 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr2:69093688G>A ENST00000295379.1 - 2 508 c.350C>T c.(349-351)cCg>cTg p.P117L NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 117 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding p.P117L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 AAAACTGACCGGCTGGGAAAA 0.428000 21 26 0 0 1 0 0 ATP1B4 23439 broad.mit.edu 37 X 119504588 119504588 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chrX:119504588A>T ENST00000218008.3 + 3 404 c.347A>T c.(346-348)tAc>tTc p.Y116F ATP1B4_ENST00000539306.1_Intron|ATP1B4_ENST00000361319.3_Missense_Mutation_p.Y112F NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 116 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 TTACTCATTTACTTCTTCTTC 0.483000 5 207 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100536765 100536765 + Splice_Site SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chrX:100536765T>A ENST00000372907.3 - 6 676 c.e6-2 TAF7L_ENST00000372905.2_Splice_Site|TAF7L_ENST00000324762.6_Splice_Site|TAF7L_ENST00000356784.1_Splice_Site NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GTGGCGTAACTAAAATAAATA 0.373000 4 65 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47754527 47754527 + Missense_Mutation SNP A A G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr21:47754527A>G ENST00000359568.5 + 3 591 c.484A>G c.(484-486)Agt>Ggt p.S162G PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 162 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTTCACAGTCAGTGACCACCC 0.552000 6 246 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113915654 113915654 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr10:113915654A>T ENST00000348367.4 - 20 2476 c.2279T>A c.(2278-2280)aTa>aAa p.I760K GPAM_ENST00000369425.1_3'UTR|GPAM_ENST00000423155.1_Missense_Mutation_p.I760K Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 760 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) TGTTCTGGTTATTAGGTATTT 0.353000 4 102 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99689497 99689497 + Missense_Mutation SNP T T C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr2:99689497T>C ENST00000393483.3 - 13 1766 c.922A>G c.(922-924)Atg>Gtg p.M308V TSGA10_ENST00000542655.1_Intron|TSGA10_ENST00000410001.1_Missense_Mutation_p.M308V|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.M308V|TSGA10_ENST00000355053.4_Missense_Mutation_p.M308V NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 308 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 GCCTGTTCCATCTCAGCAATG 0.338000 4 162 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22826356 22826356 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr16:22826356C>T ENST00000261374.3 + 1 859 c.425C>T c.(424-426)gCc>gTc p.A142V NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 142 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GACGTGCGGGCCTTGGGCACG 0.647000 14 24 0 0 1 0 0 COG3 83548 broad.mit.edu 37 13 46054373 46054373 + Missense_Mutation SNP C C A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr13:46054373C>A ENST00000349995.5 + 4 609 c.497C>A c.(496-498)tCc>tAc p.S166Y NM_031431.3 NP_113619.2 Q96JB2 COG3_HUMAN component of oligomeric golgi complex 3 166 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1) 24 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) CTTTTTGTGTCCAATAAGACA 0.378000 3 67 0.115264 0.119969 1 1 0 RRBP1 6238 broad.mit.edu 37 20 17595443 17595443 + Missense_Mutation SNP T T C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr20:17595443T>C ENST00000377813.1 - 24 4436 c.4133A>G c.(4132-4134)cAg>cGg p.Q1378R RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000455029.2_Missense_Mutation_p.Q719R|RRBP1_ENST00000246043.4_Missense_Mutation_p.Q1378R|RRBP1_ENST00000377807.2_Missense_Mutation_p.Q945R|RRBP1_ENST00000360807.4_Missense_Mutation_p.Q945R Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1378 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 CAGCTGCTCCTGGGTCGTCTT 0.582000 3 48 0 0 1 0 0 TFIP11 24144 broad.mit.edu 37 22 26888109 26888109 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr22:26888109C>T ENST00000407690.1 - 15 2667 c.2384G>A c.(2383-2385)cGa>cAa p.R795Q TFIP11_ENST00000407431.1_Missense_Mutation_p.R795Q|TFIP11_ENST00000407148.1_Missense_Mutation_p.R795Q|TFIP11_ENST00000405938.1_Missense_Mutation_p.R795Q NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 795 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 CCCTTCGTGTCGCTTCCCAAT 0.557000 4 80 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27215757 27215757 + Missense_Mutation SNP T T C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr6:27215757T>C ENST00000230582.3 + 2 182 c.167T>C c.(166-168)cTc>cCc p.L56P PRSS16_ENST00000421826.2_Missense_Mutation_p.L56P NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 56 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GCTGCAGCCCTCCCAAAAGTG 0.632000 3 118 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 3 31 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61654168 61654168 + Silent SNP T T A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr8:61654168T>A ENST00000423902.2 + 2 656 c.177T>A c.(175-177)acT>acA p.T59T CHD7_ENST00000524602.1_Silent_p.T59T|CHD7_ENST00000525508.1_Silent_p.T59T NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 59 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ATCCTTCAACTAATCAAAATC 0.398000 3 44 0 0 1 0 0 SENP2 59343 broad.mit.edu 37 3 185324122 185324122 + Missense_Mutation SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr3:185324122A>T ENST00000296257.5 + 6 694 c.454A>T c.(454-456)Act>Tct p.T152S SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.T142S NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 152 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) GCTCAGTTTTACTTTGAACTC 0.413000 4 87 0 0 1 0 0 PSMD1 5707 broad.mit.edu 37 2 232035330 232035330 + Silent SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr2:232035330G>A ENST00000308696.6 + 24 2928 c.2766G>A c.(2764-2766)gaG>gaA p.E922E PSMD1_ENST00000409643.1_Silent_p.E891E|PSMD1_ENST00000373635.4_Silent_p.E891E NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 922 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) AAGACATTGAGGAGCTGGTGG 0.493000 3 104 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13603058 13603058 + Silent SNP C C T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr4:13603058C>T ENST00000040738.5 - 10 5601 c.5466G>A c.(5464-5466)tcG>tcA p.S1822S NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1822 DNA binding CATTTTCTTCCGATTCAGAAC 0.488000 4 201 0 0 1 0 0 TBC1D23 55773 broad.mit.edu 37 3 100016854 100016854 + Missense_Mutation SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr3:100016854G>A ENST00000394144.4 + 9 971 c.964G>A c.(964-966)Gtg>Atg p.V322M TBC1D23_ENST00000475134.1_Missense_Mutation_p.V185M|TBC1D23_ENST00000344949.5_Missense_Mutation_p.V322M|TBC1D23_ENST00000486274.1_3'UTR NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 322 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 GGCCATCTCCGTGTCAGAGAT 0.433000 3 58 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220307861 220307861 + Missense_Mutation SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr2:220307861G>A ENST00000396698.1 + 2 71 c.65G>A c.(64-66)cGa>cAa p.R22Q SPEG_ENST00000312358.7_Intron|SPEG_ENST00000396695.2_5'UTR Q15772 SPEG_HUMAN SPEG complex locus 0 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCCTTTGGCCGACTCACCCAT 0.587000 130 159 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 23 0 0 1 0 0 PDP2 57546 broad.mit.edu 37 16 66919031 66919031 + Missense_Mutation SNP G G A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr16:66919031G>A ENST00000311765.2 + 2 1178 c.844G>A c.(844-846)Gca>Aca p.A282T PDP2_ENST00000568720.1_Intron NM_020786.2 NP_065837.1 Q9P2J9 PDP2_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 2 282 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) CTTGCACGTGGCAAATGCTGG 0.552000 3 104 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482593 140482593 + Missense_Mutation SNP C C A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr5:140482593C>A ENST00000231130.2 + 1 2360 c.2360C>A c.(2359-2361)cCc>cAc p.P787H NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 787 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGCAAATCCCAGTTTCAGG 0.453000 7 96 1.12685e-05 1.22275e-05 1 1 0 EP300 2033 broad.mit.edu 37 22 41566408 41566408 + Splice_Site SNP A A T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr22:41566408A>T ENST00000263253.7 + 27 5505 c.e27-1 RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TTGTATTGTTAGTTACACAAC 0.383000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 4 117 0 0 1 0 0 HMGN2P46 283651 broad.mit.edu 37 15 45848217 45848217 + RNA SNP A A G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr15:45848217A>G ENST00000409454.1 + 0 1212 ATAAAAATGCAGATTTTGTTT 0.313000 3 41 0 0 1 0 0 ANO10 55129 broad.mit.edu 37 3 43642047 43642047 + Silent SNP A A G TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr3:43642047A>G ENST00000292246.3 - 3 336 c.166T>C c.(166-168)Tta>Cta p.L56L ANO10_ENST00000414522.2_Silent_p.L56L|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000350459.4_Silent_p.L56L|ANO10_ENST00000396091.3_Intron NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 56 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 TATTTATTTAACAATGGTCTA 0.318000 5 186 0 0 0.184627 0 0 SOS2 6655 broad.mit.edu 37 14 50626628 50626628 + Missense_Mutation SNP T T C TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr14:50626628T>C ENST00000216373.5 - 10 1647 c.1373A>G c.(1372-1374)cAt>cGt p.H458R SOS2_ENST00000543680.1_Missense_Mutation_p.H425R|SOS2_ENST00000555794.1_5'UTR NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 458 PH. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) CAGAAAAATATGCCGTTCATG 0.388000 154 204 0 0 0.139131 0 0 TRGV5 6978 broad.mit.edu 37 7 38389495 38389495 + RNA SNP C C A rs2012300 by1000genomes TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr7:38389495C>A ENST00000390344.2 - 0 128 CTTAAAACTCCGGCCCCACTC 0.542000 5 13 3.59834e-05 4.94771e-05 0.217242 1 0 LZTS1 11178 broad.mit.edu 37 8 20107349 20107349 + Missense_Mutation SNP G G A rs146878421 TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr8:20107349G>A ENST00000381569.1 - 4 2032 c.1675C>T c.(1675-1677)Cgc>Tgc p.R559C LZTS1_ENST00000522290.1_Missense_Mutation_p.R500C|LZTS1_ENST00000265801.6_Missense_Mutation_p.R559C Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 559 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TTCTCCAGGCGCTGGTTCCGC 0.617000 15 220 0 0 0.175082 0 0 MTMR3 8897 broad.mit.edu 37 22 30384486 30384486 + Missense_Mutation SNP A A G TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr22:30384486A>G ENST00000333027.3 + 6 556 c.228A>G c.(226-228)atA>atG p.I76M MTMR3_ENST00000415511.1_Intron|MTMR3_ENST00000351488.3_Missense_Mutation_p.I76M|MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000406629.1_Missense_Mutation_p.I76M|MTMR3_ENST00000401950.2_Missense_Mutation_p.I76M NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 76 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TACAGCTTATAGAAAGTGTTG 0.358000 66 93 0 0 0.139131 0 0 BMP10 27302 broad.mit.edu 37 2 69093688 69093688 + Missense_Mutation SNP G G A rs141935259 TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr2:69093688G>A ENST00000295379.1 - 2 508 c.350C>T c.(349-351)cCg>cTg p.P117L NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 117 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding p.P117L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 AAAACTGACCGGCTGGGAAAA 0.428000 32 33 0 0 0.153744 0 0 PKD1L2 114780 broad.mit.edu 37 16 81190482 81190482 + RNA SNP G G A TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr16:81190482G>A ENST00000533478.1 - 0 2162 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GATCCTGAGCGTCCTTCCTCC 0.547000 30 43 0 0 0.153744 0 0 HS3ST2 9956 broad.mit.edu 37 16 22826356 22826356 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr16:22826356C>T ENST00000261374.3 + 1 859 c.425C>T c.(424-426)gCc>gTc p.A142V NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 142 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GACGTGCGGGCCTTGGGCACG 0.647000 22 35 0 0 0.076483 0 0 SPEG 10290 broad.mit.edu 37 2 220307861 220307861 + Missense_Mutation SNP G G A TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr2:220307861G>A ENST00000396698.1 + 2 71 c.65G>A c.(64-66)cGa>cAa p.R22Q SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000312358.7_Intron Q15772 SPEG_HUMAN SPEG complex locus 0 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCCTTTGGCCGACTCACCCAT 0.587000 147 248 0 0 0.139131 0 0 CHRM4 1132 broad.mit.edu 37 11 46407118 46407118 + Silent SNP C C T TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr11:46407118C>T ENST00000433765.2 - 1 989 c.990G>A c.(988-990)ccG>ccA p.P330P NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 330 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) TGAGGGCCCGCGGCTGCAGGG 0.637000 11 313 0 0 0.080935 0 0 FOXO3 2309 broad.mit.edu 37 6 108984910 108984910 + Missense_Mutation SNP C C T TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr6:108984910C>T ENST00000406360.1 + 2 1217 c.874C>T c.(874-876)Cct>Tct p.P292S FOXO3_ENST00000343882.6_Missense_Mutation_p.P292S|FOXO3_ENST00000540898.1_Missense_Mutation_p.P72S NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 292 PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860). antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) CTCCAAGTGGCCTGGCAGCCC 0.622000 4 44 0 0 0.150653 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482593 140482593 + Missense_Mutation SNP C C A TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr5:140482593C>A ENST00000231130.2 + 1 2360 c.2360C>A c.(2359-2361)cCc>cAc p.P787H NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 787 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGCAAATCCCAGTTTCAGG 0.453000 14 196 2.23348e-06 3.35023e-06 0.146539 1 0 SSU72 29101 broad.mit.edu 37 1 1500119 1500120 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:1500119_1500120insG ENST00000359060.4 - 2 283_284 c.257_258insC c.(256-258)ctgfs p.L86fs SSU72_ENST00000291386.3_Intron Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 0 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GAGGACCACACGGGGGGTTTTT 0.505 7 304 --- --- --- --- AGO1 26523 broad.mit.edu 37 1 36354044 36354045 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:36354044_36354045insC ENST00000373204.4 + 2 255_256 c.42_43insC c.(40-45)ctccccfs p.LP14fs AGO1_ENST00000373206.1_5'UTR NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 GCGCTTACCTGCCCCCCCTGCA 0.569 8 178 --- --- --- --- ZMYND12 84217 broad.mit.edu 37 1 42898878 42898879 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:42898878_42898879insG ENST00000372565.3 - 7 1179_1180 c.910_911insC c.(910-912)aaafs p.K304fs ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 304 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATGGTTTTTTGGGGGGCTTTG 0.411 8 357 --- --- --- --- FAM151A 338094 broad.mit.edu 37 1 55081756 55081757 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:55081756_55081757insG ENST00000302250.2 - 3 511_512 c.351_352insC c.(349-354)ccctatfs p.Y118fs ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 118 integral to membrane p.T118fs*43(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CTGTAGATAGTGGGGGGGTGTG 0.594 9 237 --- --- --- --- FGGY 55277 broad.mit.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G rs145440779 by1000genomes TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:59812016_59812017insG ENST00000371218.4 + 4 595_596 c.411_412insG c.(409-414)gtggggfs p.VG137fs FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 137 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TCCAGTACGTCGGGGGGGTGAT 0.500 16 155 --- --- --- --- GBP7 388646 broad.mit.edu 37 1 89613321 89613322 + Frame_Shift_Ins INS - - C rs138127555 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:89613321_89613322insC ENST00000294671.2 - 8 1431_1432 c.1293_1294insG c.(1291-1296)ggacaafs p.Q432fs NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 432 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TAGATATTGTGCCCCCCCGGAA 0.436 11 160 --- --- --- --- EPHX4 253152 broad.mit.edu 37 1 92511121 92511122 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:92511121_92511122insG ENST00000370383.4 + 4 606_607 c.508_509insG c.(508-510)gggfs p.G170fs NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 170 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 TGGCCATGACTGGGGGGGCATG 0.386 20 258 --- --- --- --- OVGP1 5016 broad.mit.edu 37 1 111959046 111959047 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:111959046_111959047insC ENST00000369732.3 - 10 1109_1110 c.1054_1055insG c.(1054-1056)catfs p.H352fs OVGP1_ENST00000540696.1_3'UTR NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 352 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CCACACCATGGCCCCCCCAAAA 0.505 26 349 --- --- --- --- ITGA10 8515 broad.mit.edu 37 1 145534121 145534122 + Frame_Shift_Ins INS - - C rs147270843 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:145534121_145534122insC ENST00000369304.3 + 14 1801_1802 c.1626_1627insC c.(1624-1629)gaccccfs p.DP542fs ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 542 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCAGCCAGAACCCCCCCAGGA 0.554 18 329 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145585532 145585533 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:145585532_145585533insG ENST00000393045.2 + 14 1887_1888 c.1797_1798insG c.(1795-1800)ccggggfs p.PG599fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 599 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGTGGCCCCTGGGGGGGCCTT 0.663 8 108 --- --- --- --- SCAMP3 10067 broad.mit.edu 37 1 155230128 155230129 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:155230128_155230129insC ENST00000355379.3 - 3 580_581 c.302_303insG c.(301-303)gacfs p.D101fs SCAMP3_ENST00000302631.3_Frame_Shift_Ins_p.D127fs|SCAMP3_ENST00000472397.1_5'UTR NM_052837.2 NP_443069.1 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 127 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TACTAGCTGTGCCCCCCAGGGC 0.589 9 249 --- --- --- --- NES 10763 broad.mit.edu 37 1 156642803 156642804 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:156642803_156642804insG ENST00000368223.3 - 4 1308_1309 c.1176_1177insC c.(1174-1179)cccaccfs p.T393fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 393 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCTGAGGTGTGGGGGGGATGG 0.594 7 119 --- --- --- --- MRPL24 79590 broad.mit.edu 37 1 156708444 156708445 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:156708444_156708445insG ENST00000361531.2 - 2 188_189 c.52_53insC c.(52-54)ttafs p.L18fs MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs Q96A35 RM24_HUMAN mitochondrial ribosomal protein L24 18 translation mitochondrion|ribosome structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(4) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATAGCGGTAATGGGGGGGCAGA 0.574 8 121 --- --- --- --- KCNJ10 3766 broad.mit.edu 37 1 160012017 160012018 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:160012017_160012018insG ENST00000368089.3 - 2 531_532 c.305_306insC c.(304-306)cgcfs p.R102fs KCNJ10_ENST00000509700.1_5'UTR NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 102 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTGGTTGGCCGGGGGGTCCAG 0.584 7 306 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176762723 176762724 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:176762723_176762724insC ENST00000367662.3 + 20 6212_6213 c.5048_5049insC c.(5047-5049)accfs p.T1683fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1683 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTGTGTGTAATCCCCCCCAGTG 0.470 12 307 --- --- --- --- FAM129A 116496 broad.mit.edu 37 1 184764537 184764538 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:184764537_184764538insC ENST00000367511.3 - 14 2553_2554 c.2360_2361insG c.(2359-2361)gttfs p.V787fs FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 787 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 CCTCTGGAAATCCCCCCAACTC 0.668 7 398 --- --- --- --- CACNA1S 779 broad.mit.edu 37 1 201046125 201046126 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:201046125_201046126insC ENST00000362061.3 - 12 1975_1976 c.1749_1750insG c.(1747-1752)ggggtafs p.V584fs CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 584 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAGTCATACCTCCCCCCAAAGA 0.574 7 295 --- --- --- --- ATP2B4 493 broad.mit.edu 37 1 203667345 203667346 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:203667345_203667346insC ENST00000357681.5 + 3 1377_1378 c.254_255insC c.(253-255)accfs p.T85fs ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 85 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CACAACGTGATCCCCCCCAAAA 0.480 7 168 --- --- --- --- PIK3C2B 5287 broad.mit.edu 37 1 204438071 204438072 + Frame_Shift_Ins INS - - G rs115574296 by1000genomes TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:204438071_204438072insG ENST00000367187.3 - 3 1415_1416 c.859_860insC c.(859-861)cacfs p.H287fs PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 287 Interaction with GRB2. 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 p.R287fs*92(1) 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) GGCATAGGTGCGGGGGGGCACC 0.624 16 240 --- --- --- --- DIEXF 27042 broad.mit.edu 37 1 210014266 210014267 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr1:210014266_210014267insC ENST00000491415.2 + 8 1408_1409 c.1351_1352insC c.(1351-1353)cccfs p.P451fs NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 451 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 CCTCATTGCTTCCCCCCTGGGC 0.465 7 284 --- --- --- --- MYT1L 23040 broad.mit.edu 37 2 1947094 1947094 + Frame_Shift_Del DEL A A - TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:1947094delA ENST00000399161.2 - 9 912 c.165delT c.(163-165)tgfs p.C55fs MYT1L_ENST00000428368.2_Frame_Shift_Del_p.C55fs NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 55 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCGCCAAGGGACAACCATATA 0.418 2 4 --- --- --- --- AGBL5 60509 broad.mit.edu 37 2 27292516 27292517 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:27292516_27292517insC ENST00000360131.4 + 14 2590_2591 c.2431_2432insC c.(2431-2433)cccfs p.P811fs NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 811 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACATCCCCTACCCCCCGGACC 0.644 7 171 --- --- --- --- CAD 790 broad.mit.edu 37 2 27456981 27456982 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:27456981_27456982insC ENST00000264705.4 + 22 3667_3668 c.3505_3506insC c.(3505-3507)cccfs p.P1169fs CAD_ENST00000403525.1_Frame_Shift_Ins_p.P1106fs NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1169 ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GACGCTGGTGACCCCCCCACAA 0.574 7 73 --- --- --- --- ANTXR1 84168 broad.mit.edu 37 2 69409763 69409764 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:69409763_69409764insC ENST00000303714.4 + 16 1646_1647 c.1324_1325insC c.(1324-1326)cccfs p.P442fs NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 442 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TCGGCCTTCTTCCCCCCGGAAG 0.421 Familial Infantile Hemangioma 7 367 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89082293 89082294 + RNA INS - - ATTT TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:89082293_89082294insATTT ENST00000393525.3 + 0 503 ATTAAAGTCTCATATGTTGAAC 0.332 7 39 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168099957 168099958 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:168099957_168099958insG ENST00000409195.1 + 9 2144_2145 c.2055_2056insG c.(2053-2058)acggggfs p.TG685fs XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 510 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGACATAACTGGGGGGGATGT 0.421 8 166 --- --- --- --- NEUROD1 4760 broad.mit.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:182542971_182542972insG ENST00000295108.3 - 2 1073_1074 c.616_617insC c.(616-618)cctfs p.P206fs CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 206 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTCGGCAGGTGGGGGGGCATG 0.619 9 192 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187521084 187521085 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:187521084_187521085insG ENST00000261023.3 + 17 1949_1950 c.1675_1676insG c.(1675-1677)gggfs p.G559fs ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 559 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTATTTCAAGGGGGGGACTG 0.431 15 321 --- --- --- --- INPP5D 3635 broad.mit.edu 37 2 234072358 234072359 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:234072358_234072359insC ENST00000359570.5 + 14 1210_1211 c.1210_1211insC c.(1210-1212)cccfs p.P404fs INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 416 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGAAGGTAACGCCCCCCCTCCC 0.535 11 261 --- --- --- --- FANCD2 2177 broad.mit.edu 37 3 10088407 10088410 + Splice_Site DEL AGTA AGTA - rs146316187 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:10088407_10088410delAGTA ENST00000287647.3 + 15 1371 c.1278_splice c.e15+1 p.426_splice FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 426 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TTCATTACTTAGTAAGTGTCAGAG 0.358 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 18 44 --- --- --- --- RPL32 6161 broad.mit.edu 37 3 12880929 12880930 + Frame_Shift_Ins INS - - T TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:12880929_12880930insT ENST00000429711.2 - 3 295_296 c.196_197insA c.(196-198)aaafs p.K66fs RPL32_ENST00000396957.1_Frame_Shift_Ins_p.K66fs|RPL32_ENST00000435983.1_Frame_Shift_Ins_p.K66fs|RPL32_ENST00000273223.6_Frame_Shift_Ins_p.K84fs|RPL32_ENST00000396953.2_Frame_Shift_Ins_p.K66fs NM_000994.3 NP_000985.1 P62910 RL32_HUMAN ribosomal protein L32 66 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 CATGTGCTTTGTTTTTTTGTTG 0.515 9 385 --- --- --- --- KCTD6 200845 broad.mit.edu 37 3 58486771 58486772 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:58486771_58486772insG ENST00000355076.6 + 2 1109_1110 c.126_127insG c.(124-129)ttggggfs p.LG42fs KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs NM_153331.3 NP_699162.3 Q8NC69 KCTD6_HUMAN potassium channel tetramerization domain containing 6 42 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) GAGCTATGTTTGGGGGGGACTT 0.465 8 254 --- --- --- --- GRK7 131890 broad.mit.edu 37 3 141535707 141535708 + Frame_Shift_Ins INS - - G rs149574289 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:141535707_141535708insG ENST00000264952.2 + 4 1614_1615 c.1477_1478insG c.(1477-1479)gggfs p.G493fs NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 493 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.R493L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CTCTGAGGTTCGGGGGGTGGAA 0.460 15 628 --- --- --- --- SAMD7 344658 broad.mit.edu 37 3 169646267 169646268 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:169646267_169646268insG ENST00000428432.2 + 7 1331_1332 c.942_943insG c.(940-945)atggggfs p.MG314fs SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 314 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TGGTTACAATTGGGGGGAATCT 0.381 7 300 --- --- --- --- ABCC5 10057 broad.mit.edu 37 3 183700629 183700630 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:183700629_183700630insC ENST00000334444.6 - 6 997_998 c.757_758insG c.(757-759)catfs p.H253fs ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs|ABCC5_ENST00000492216.1_5'UTR NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 253 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGTTAGGATGGCCCCCCGCAAG 0.515 7 184 --- --- --- --- SLC51A 200931 broad.mit.edu 37 3 195955037 195955038 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:195955037_195955038insG ENST00000296327.5 + 5 623_624 c.414_415insG c.(412-417)ttggggfs p.LG138fs NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit TGGAAGGCTTTGGGGGGAAGGA 0.614 7 602 --- --- --- --- EVC 2121 broad.mit.edu 37 4 5785361 5785362 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr4:5785361_5785362insC ENST00000382674.2 + 12 1830_1831 c.1646_1647insC c.(1645-1647)cccfs p.P549fs EVC_ENST00000264956.6_Frame_Shift_Ins_p.P549fs P57679 EVC_HUMAN Ellis van Creveld syndrome 549 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) ATGACTGGCCTCCCCCCGGAAG 0.584 7 363 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114280134 114280135 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr4:114280134_114280135insG ENST00000357077.4 + 38 10413_10414 c.10360_10361insG c.(10360-10362)gggfs p.G3454fs ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3421 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.T3457fs*8(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATCTTCCTGCAGGGGGGGCACG 0.455 10 111 --- --- --- --- TLR3 7098 broad.mit.edu 37 4 186997804 186997805 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr4:186997804_186997805insG ENST00000296795.2 + 2 135_136 c.31_32insG c.(31-33)gggfs p.G11fs NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 11 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TATCTACTTTTGGGGGGGCCTT 0.446 8 173 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187558038 187558039 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr4:187558038_187558039insG ENST00000441802.2 - 5 3881_3882 c.3672_3673insC c.(3670-3675)ccaatcfs p.I1225fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1225 Cadherin 10. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ATGGTTGATTTGGGGGGACTAC 0.361 HNSCC(5;0.00058) 7 604 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 31799540 31799541 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr5:31799540_31799541insC ENST00000438447.1 + 2 573_574 c.185_186insC c.(184-186)accfs p.T62fs PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs O15018 PDZD2_HUMAN PDZ domain containing 2 62 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.E65fs*34(1)|p.E65fs*21(1) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCTGATCACAGCCCCCCCGAAA 0.589 7 154 --- --- --- --- SLC1A3 6507 broad.mit.edu 37 5 36679798 36679799 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr5:36679798_36679799insG ENST00000265113.4 + 7 1406_1407 c.930_931insG c.(928-933)atggggfs p.MG310fs CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 310 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) TGGGTGTGATTGGGGGGCAGCT 0.520 7 477 --- --- --- --- C6 729 broad.mit.edu 37 5 41181559 41181560 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr5:41181559_41181560insC ENST00000263413.3 - 7 1092_1093 c.828_829insG c.(826-831)gggctcfs p.L277fs C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 277 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding 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) CTGAAAGAGCTCCCCCCCTGAC 0.376 10 156 --- --- --- --- ARAP3 64411 broad.mit.edu 37 5 141049341 141049342 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr5:141049341_141049342insC ENST00000239440.4 - 16 2351_2352 c.2286_2287insG c.(2284-2289)ggggatfs p.D763fs ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 763 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 TGCTGGATCCTCCCCCCAGCGA 0.579 8 492 --- --- --- --- PCDH12 51294 broad.mit.edu 37 5 141336747 141336748 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr5:141336747_141336748insG ENST00000231484.3 - 1 1879_1880 c.669_670insC c.(667-672)ccagtcfs p.V224fs NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 224 Cadherin 2. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCTGACTTGGGGGGGTTCC 0.480 9 243 --- --- --- --- TCOF1 6949 broad.mit.edu 37 5 149755744 149755745 + Frame_Shift_Ins INS - - C rs2071240 byFrequency TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr5:149755744_149755745insC ENST00000451292.1 + 13 2101_2102 c.1993_1994insC c.(1993-1995)cccfs p.P665fs TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 665 A -> P (in dbSNP:rs2071240). skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGCACCCAAGCCCCCCGGAAA 0.584 7 288 --- --- --- --- GCNT2 2651 broad.mit.edu 37 6 10557409 10557410 + Frame_Shift_Ins INS - - C rs55808116 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr6:10557409_10557410insC ENST00000316170.3 + 1 1170_1171 c.753_754insC c.(751-756)ccccccfs p.PP251fs GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 253 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TGAAACCGCCTCCCCCCCATAA 0.485 18 256 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr6:13206134_13206135insG ENST00000379350.1 + 7 881_882 c.752_753insG c.(751-753)gggfs p.G251fs PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCAG 0.599 11 202 --- --- --- --- DCDC2 51473 broad.mit.edu 37 6 24205282 24205283 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr6:24205282_24205283insC ENST00000378454.3 - 8 1271_1272 c.970_971insG c.(970-972)agcfs p.S324fs DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 324 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) GACTTCTGCTGCCCCCCGTGTT 0.411 36 1090 --- --- --- --- NOTCH4 4855 broad.mit.edu 37 6 32181941 32181942 + Frame_Shift_Ins INS - - C rs143622513 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr6:32181941_32181942insC ENST00000375023.3 - 13 2250_2251 c.2112_2113insG c.(2110-2115)ggcctgfs p.L705fs NOTCH4_ENST00000465528.1_5'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 705 EGF-like 18. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGGTAGCAGGTCCCCCCATGGG 0.604 8 462 --- --- --- --- FANCE 2178 broad.mit.edu 37 6 35425714 35425715 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr6:35425714_35425715insC ENST00000229769.2 + 4 1107_1108 c.922_923insC c.(922-924)cccfs p.P308fs NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 308 Interaction with FANCC. DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 ATTGGAGGATGCCCCCCCAGTT 0.540 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 9 113 --- --- --- --- BRPF3 27154 broad.mit.edu 37 6 36181728 36181729 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr6:36181728_36181729insC ENST00000357641.6 + 8 2807_2808 c.2554_2555insC c.(2554-2556)cccfs p.P852fs BRPF3_ENST00000534400.1_Frame_Shift_Ins_p.P852fs|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 852 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 TGAGCAAGAATCCCCCCCGGAG 0.500 8 81 --- --- --- --- REV3L 5980 broad.mit.edu 37 6 111693903 111693904 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr6:111693903_111693904insG ENST00000435970.1 - 15 6236_6237 c.5420_5421insC c.(5419-5421)cagfs p.Q1807fs REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1885 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTCCCTACTTGGGGGGGACAT 0.431 DNA polymerases (catalytic subunits) 18 323 --- --- --- --- TAB2 23118 broad.mit.edu 37 6 149700166 149700167 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr6:149700166_149700167insC ENST00000367456.1 + 4 1692_1693 c.1115_1116insC c.(1114-1116)accfs p.T372fs TAB2_ENST00000392282.1_Frame_Shift_Ins_p.T372fs|TAB2_ENST00000536230.1_Frame_Shift_Ins_p.T340fs|TAB2_ENST00000538427.1_Frame_Shift_Ins_p.T372fs|TAB2_ENST00000286332.5_Frame_Shift_Ins_p.T372fs Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 372 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding p.S372S(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 ATAGCTGCCAGCCCCCCAAATA 0.495 7 131 --- --- --- --- GRM3 2913 broad.mit.edu 37 7 86415681 86415682 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr7:86415681_86415682insC ENST00000361669.2 + 3 1672_1673 c.573_574insC c.(571-576)gtccccfs p.VP191fs AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs|AC005009.2_ENST00000418031.1_RNA NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 191 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCAGGACCGTGCCCCCCGACTT 0.564 8 198 --- --- --- --- KEL 3792 broad.mit.edu 37 7 142639979 142639980 + Frame_Shift_Ins INS - - C rs140258059 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr7:142639979_142639980insC ENST00000355265.2 - 17 2397_2398 c.1923_1924insG c.(1921-1926)ggtagcfs p.S642fs NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 642 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCGATGGCTAGCCCCCCAACGT 0.500 8 646 --- --- --- --- ABCA1 19 broad.mit.edu 37 9 107593322 107593323 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr9:107593322_107593323insC ENST00000374736.3 - 14 2169_2170 c.1775_1776insG c.(1774-1776)gttfs p.V592fs NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 592 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTAGGCGAAGCCCCCCCAGAC 0.540 11 177 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109691601 109691602 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr9:109691601_109691602insG ENST00000277225.5 + 3 5697_5698 c.5408_5409insG c.(5407-5409)tggfs p.W1803fs ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs Q96JM2 ZN462_HUMAN zinc finger protein 462 1803 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GCCAGCAAGTTGGGGGGCTACT 0.550 9 199 --- --- --- --- BTRC 8945 broad.mit.edu 37 10 103310572 103310573 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr10:103310572_103310573insC ENST00000370187.3 + 14 1891_1892 c.1773_1774insC c.(1771-1776)gaccccfs p.DP591fs BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000493877.1_3'UTR NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 591 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CCCAAGCTGAACCCCCCCGTTC 0.431 7 131 --- --- --- --- OR51E1 143503 broad.mit.edu 37 11 4674216 4674217 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:4674216_4674217insG ENST00000396952.5 + 2 1110_1111 c.460_461insG c.(460-462)gggfs p.G154fs OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A155fs*3(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCTGTGGTGCGGGGGGCTGCA 0.559 9 416 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662141 6662142 + Frame_Shift_Ins INS - - G rs143767864 byFrequency TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:6662141_6662142insG ENST00000299441.3 - 2 1114_1115 c.703_704insC c.(703-705)gagfs p.E235fs NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 235 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R235Q(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCCTCCGGGGGGGTGAA 0.589 13 120 --- --- --- --- DENND5A 23258 broad.mit.edu 37 11 9167316 9167317 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:9167316_9167317insC ENST00000328194.3 - 17 3223_3224 c.2903_2904insG c.(2902-2904)gtcfs p.V968fs DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.V968fs|DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.V311fs NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 968 PLAT. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGAACATGGAGCCCCCCAGCTT 0.480 7 445 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513669 35513670 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:35513669_35513670insC ENST00000378880.2 - 3 747_748 c.302_303insG c.(301-303)gacfs p.D101fs PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CATCCAAGGTACCCCCCCATGA 0.520 23 539 --- --- --- --- DDB1 1642 broad.mit.edu 37 11 61094367 61094368 + Splice_Site INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:61094367_61094368insG ENST00000301764.7 - 5 947 c.e5-2 DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CTGAGGGTCCTGGGGGGGAAAG 0.515 Nucleotide excision repair (NER) 8 205 --- --- --- --- CCS 9973 broad.mit.edu 37 11 66366957 66366958 + Frame_Shift_Ins INS - - G rs61731811 byFrequency TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:66366957_66366958insG ENST00000533244.1 + 4 719_720 c.278_279insG c.(277-279)cggfs p.R93fs CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs NM_005125.1 NP_005116.1 O14618 CCS_HUMAN copper chaperone for superoxide dismutase 93 Superoxide dismutase-like. intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals cytosol|mitochondrial inner membrane|nucleus|soluble fraction copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1) 9 GTGGCCATCCTGGGGGGGCCTG 0.644 9 68 --- --- --- --- OR10G8 219869 broad.mit.edu 37 11 123900396 123900397 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:123900396_123900397insC ENST00000431524.1 + 1 100_101 c.67_68insC c.(67-69)cccfs p.P23fs NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A23T(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGCGCTGGACGCCCCCCTCTTT 0.589 7 504 --- --- --- --- ADAMTS8 11095 broad.mit.edu 37 11 130275723 130275724 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr11:130275723_130275724insG ENST00000257359.6 - 9 3105_3106 c.2399_2400insC c.(2398-2400)caafs p.Q800fs NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 800 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) ATTTGACTTTTGGGGGGAAGAC 0.579 11 895 --- --- --- --- KDM5A 5927 broad.mit.edu 37 12 442810 442811 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:442810_442811insC ENST00000399788.2 - 12 1857_1858 c.1495_1496insG c.(1495-1497)gccfs p.A499fs KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.A499fs NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 499 JmjC. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TGTCTTTGGCTCCCCCCTAGCA 0.465 T NUP98 AML 8 263 --- --- --- --- CD4 920 broad.mit.edu 37 12 6924042 6924043 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:6924042_6924043insG ENST00000011653.4 + 5 749_750 c.491_492insG c.(490-492)cggfs p.R164fs CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 164 Ig-like C2-type 1. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) AAAAACATACAGGGGGGGAAGA 0.564 9 278 --- --- --- --- HEBP1 50865 broad.mit.edu 37 12 13142224 13142225 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:13142224_13142225insC ENST00000536942.1 - 2 353_354 c.203_204insG c.(202-204)gacfs p.D68fs HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs Q9NRV9 HEBP1_HUMAN heme binding protein 1 68 circadian rhythm extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TGTCATTGGTGCCCCCCGCATA 0.554 15 627 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49445525 49445526 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:49445525_49445526insG ENST00000301067.7 - 10 1939_1940 c.1940_1941insC c.(1939-1941)cccfs p.P647fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATACCTCAGGTGGGGGGGACAT 0.634 11 149 --- --- --- --- PCBP2 5094 broad.mit.edu 37 12 53856277 53856278 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:53856277_53856278insC ENST00000603815.1 + 8 867_868 c.517_518insC c.(517-519)cccfs p.P173fs PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 173 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 TCTCTCCCAGTCCCCCCCGAAG 0.500 8 128 --- --- --- --- PDE1B 5153 broad.mit.edu 37 12 54971059 54971060 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:54971059_54971060insC ENST00000243052.3 + 15 1994_1995 c.1558_1559insC c.(1558-1560)cccfs p.P520fs PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PPP1R1A_ENST00000547431.1_3'UTR NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 520 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TGAAGAAGAGGCCCCCCCATCC 0.559 14 349 --- --- --- --- IKZF4 64375 broad.mit.edu 37 12 56429092 56429093 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:56429092_56429093insG ENST00000262032.5 + 12 2102_2103 c.1735_1736insG c.(1735-1737)gggfs p.G579fs IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|RP11-603J24.4_ENST00000551846.1_RNA Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 579 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CCACATTGTCCGGGGGGAGCAT 0.554 8 529 --- --- --- --- PA2G4 5036 broad.mit.edu 37 12 56505301 56505302 + Frame_Shift_Ins INS - - A rs149549286 byFrequency TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:56505301_56505302insA ENST00000303305.6 + 12 1526_1527 c.1107_1108insA c.(1105-1110)aaaaaafs p.KK369fs PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 369 Interaction with RNA (By similarity).|Necessary for nucleolar localization. cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) CCCAGAAAAAGAAAAAAAAGAA 0.386 7 177 --- --- --- --- BAZ2A 11176 broad.mit.edu 37 12 57009177 57009178 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:57009177_57009178insC ENST00000179765.5 - 3 549_550 c.350_351insG c.(349-351)gcafs p.A117fs BAZ2A_ENST00000551812.1_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.A117fs Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 119 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GTGGGTATTGTCCCCCCGAGAA 0.584 7 223 --- --- --- --- NACA 4666 broad.mit.edu 37 12 57114417 57114418 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:57114417_57114418insG ENST00000454682.1 - 3 1177_1178 c.896_897insC c.(895-897)cgafs p.R299fs NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGGGAAAATCTGGGGGGGTGTT 0.490 T BCL6 NHL 7 68 --- --- --- --- STAT6 6778 broad.mit.edu 37 12 57499093 57499094 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:57499093_57499094insG ENST00000300134.3 - 9 1166_1167 c.841_842insC c.(841-843)ggtfs p.G281fs STAT6_ENST00000537215.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.G281fs NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 281 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 CTTCAGTACCTGGGGGGGCTGC 0.639 10 109 --- --- --- --- GLI1 2735 broad.mit.edu 37 12 57860074 57860075 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:57860074_57860075insG ENST00000228682.2 + 8 905_906 c.814_815insG c.(814-816)gggfs p.G272fs GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 272 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CGTGTGCCACTGGGGGGGCTGC 0.599 20 429 --- --- --- --- IRAK3 11213 broad.mit.edu 37 12 66610953 66610954 + Frame_Shift_Ins INS - - A TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:66610953_66610954insA ENST00000261233.4 + 6 1012_1013 c.591_592insA c.(589-594)gaaaaafs p.EK197fs IRAK3_ENST00000457197.2_Frame_Shift_Ins_p.EK136fs NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 197 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) ATATGTAGGAGAAAAAAATGCA 0.361 7 773 --- --- --- --- TMCC3 57458 broad.mit.edu 37 12 94975857 94975858 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:94975857_94975858insG ENST00000261226.4 - 2 666_667 c.535_536insC c.(535-537)ttgfs p.L179fs TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.L148fs NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 179 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 CTCCATGCAATGGGGGGCAGTT 0.495 8 190 --- --- --- --- MSI1 4440 broad.mit.edu 37 12 120800902 120800903 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr12:120800902_120800903insC ENST00000257552.2 - 6 433_434 c.345_346insG c.(343-348)ggtgtcfs p.V116fs NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 116 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCACCGACAGCCCCCCCACAA 0.564 12 245 --- --- --- --- ATP12A 479 broad.mit.edu 37 13 25262563 25262564 + Frame_Shift_Ins INS - - G rs35191129 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr13:25262563_25262564insG ENST00000218548.6 + 4 668_669 c.335_336insG c.(334-336)gggfs p.G112fs ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 112 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding p.V112V(1) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) AAGCAGATGGTGGGGGGGTTCT 0.584 43 1285 --- --- --- --- OR4N5 390437 broad.mit.edu 37 14 20612063 20612064 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr14:20612063_20612064insC ENST00000333629.1 + 1 169_170 c.169_170insC c.(169-171)cccfs p.P57fs NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGGGCTCACAGCCCCCCTCTAT 0.460 7 859 --- --- --- --- FNTB 2342 broad.mit.edu 37 14 65520040 65520041 + Frame_Shift_Ins INS - - G rs149471226 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr14:65520040_65520041insG ENST00000246166.2 + 10 1274_1275 c.1040_1041insG c.(1039-1041)gggfs p.G347fs CHURC1-FNTB_ENST00000448390.2_Frame_Shift_Ins_p.G103fs|CHURC1-FNTB_ENST00000542227.1_Frame_Shift_Ins_p.G301fs|CHURC1-FNTB_ENST00000447296.2_Frame_Shift_Ins_p.G381fs|MAX_ENST00000341653.2_Intron NM_002028.3 NP_002019.1 farnesyltransferase, CAAX box, beta p.A347A(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) CAGTGCCCTGCGGGGGGGCTTC 0.599 8 50 --- --- --- --- GALNT16 57452 broad.mit.edu 37 14 69800299 69800300 + Frame_Shift_Ins INS - - G rs144140025 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr14:69800299_69800300insG ENST00000337827.4 + 9 1276_1277 c.949_950insG c.(949-951)gggfs p.G317fs GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GATGGACATCTGGGGGGGAGAG 0.470 7 151 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74206605 74206606 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr14:74206605_74206606insG ENST00000286523.5 - 2 888_889 c.106_107insC c.(106-108)gcafs p.A36fs ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.A36fs NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GATGGACTGCTGGGGGGGCTGC 0.668 7 95 --- --- --- --- OR4M2 390538 broad.mit.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr15:22369023_22369024insG ENST00000332663.2 + 1 546_547 c.448_449insG c.(448-450)gggfs p.G150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R150M(2)|p.R150W(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTCTCCTGGAGGGGGGGCTTC 0.500 18 527 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28478873 28478874 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr15:28478873_28478874insG ENST00000261609.7 - 28 4395_4396 c.4287_4288insC c.(4285-4290)ccagcafs p.A1430fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1430 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.P1429P(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACGGGATGCTCGGGGGGAAACA 0.450 7 135 --- --- --- --- C15orf52 388115 broad.mit.edu 37 15 40630771 40630772 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr15:40630771_40630772insG ENST00000559313.1 - 5 624_625 c.609_610insC c.(607-612)cccgcafs p.A204fs NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 204 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GCCACCTGCGTGGGGGGGCTTC 0.584 OREG0023060 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 156 --- --- --- --- ACSM2B 348158 broad.mit.edu 37 16 20556547 20556548 + Frame_Shift_Ins INS - - G rs146499503 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:20556547_20556548insG ENST00000329697.6 - 10 1380_1381 c.1212_1213insC c.(1210-1215)ccgcacfs p.H405fs ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 405 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CCTTCTGTGCCGGGGGGCAGGA 0.515 9 191 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 21063027 21063028 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:21063027_21063028insG ENST00000261383.3 - 29 4200_4201 c.4201_4202insC c.(4201-4203)gctfs p.A1401fs DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.A1401fs NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1401 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GATCACCAGCCGGGGGGAGTTT 0.569 12 289 --- --- --- --- ARHGAP17 55114 broad.mit.edu 37 16 24942179 24942180 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:24942179_24942180insG ENST00000289968.6 - 19 2509_2510 c.2440_2441insC c.(2440-2442)accfs p.T814fs ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.T736fs NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 814 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) ACCAGGAGGTTGGGGGGGTGGG 0.574 8 95 --- --- --- --- TBX6 6911 broad.mit.edu 37 16 30100077 30100078 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:30100077_30100078insC ENST00000553607.1 - 4 1397_1398 c.704_705insG c.(703-705)gatfs p.D235fs TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs O95947 TBX6_HUMAN T-box 6 235 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 9 AGGAGGCCATGCCCCCCCAGTG 0.629 8 131 --- --- --- --- MT4 84560 broad.mit.edu 37 16 56602768 56602769 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:56602768_56602769insC ENST00000219162.3 + 3 193_194 c.113_114insC c.(112-114)tccfs p.S38fs NM_032935.2 NP_116324.1 P47944 MT4_HUMAN metallothionein 4 38 cytoplasm copper ion binding|zinc ion binding ovary(1)|upper_aerodigestive_tract(1) 2 TGTCCCTGCTGCCCCCCGGGCT 0.599 17 633 --- --- --- --- CLEC3A 10143 broad.mit.edu 37 16 78090272 78090272 + RNA DEL G G - TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:78090272delG ENST00000563114.1 - 0 41 CAGGCAGGGTGGCCAGCTTGC 0.527 2 4 --- --- --- --- ALOX12 239 broad.mit.edu 37 17 6903739 6903740 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:6903739_6903740insC ENST00000251535.6 + 7 945_946 c.892_893insC c.(892-894)cccfs p.P298fs AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 298 Lipoxygenase. A -> T. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 ATACCTGGCTGCCCCCCTCGTT 0.554 7 671 --- --- --- --- EFNB3 1949 broad.mit.edu 37 17 7612855 7612856 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:7612855_7612856insC ENST00000226091.2 + 5 1381_1382 c.984_985insC c.(982-987)ggccccfs p.GP328fs NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 328 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) TGCAGGATGGGCCCCCCCAGAG 0.574 9 158 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27963294 27963295 + Frame_Shift_Ins INS - - G rs35554312 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:27963294_27963295insG ENST00000269033.3 - 14 2023_2024 c.1872_1873insC c.(1870-1875)cctgtcfs p.V625fs RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 625 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCAGGGGACATGGGGGGGTCTT 0.470 10 192 --- --- --- --- ACACA 31 broad.mit.edu 37 17 35600370 35600371 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:35600370_35600371insG ENST00000353139.5 - 22 3328_3329 c.2847_2848insC c.(2845-2850)ccatgtfs p.C950fs ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 913 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTCTCCACATTGGGGGGAATGC 0.470 8 514 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37687471 37687472 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:37687471_37687472insG ENST00000447079.4 + 14 4408_4409 c.4375_4376insG c.(4375-4377)gggfs p.G1459fs CDK12_ENST00000430627.2_Frame_Shift_Ins_p.G1450fs NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1459 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AGGCCTTCACTGGGGGGGCCCA 0.559 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 8 106 --- --- --- --- KRT26 353288 broad.mit.edu 37 17 38926341 38926342 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:38926341_38926342insC ENST00000335552.4 - 4 762_763 c.714_715insG c.(712-717)ggacgtfs p.R239fs NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 239 Linker 12.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) ACGTTCACGTTCCCCCCAGCTG 0.480 7 237 --- --- --- --- KCNH4 23415 broad.mit.edu 37 17 40328258 40328259 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:40328258_40328259insC ENST00000264661.3 - 5 974_975 c.642_643insG c.(640-645)ggctcgfs p.S215fs KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 215 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGGCAGCGAGACCCCCCCACGG 0.604 11 316 --- --- --- --- MTMR4 9110 broad.mit.edu 37 17 56590245 56590246 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:56590245_56590246insG ENST00000323456.5 - 3 184_185 c.60_61insC c.(58-63)ccaggafs p.G21fs MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 21 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity p.K21fs*20(1) breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACTAGTTCCTTGGGGGGGAACA 0.569 7 111 --- --- --- --- MARCH10 162333 broad.mit.edu 37 17 60814265 60814266 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:60814265_60814266insC ENST00000544856.2 - 7 1338_1339 c.960_961insG c.(958-963)ggcatcfs p.I321fs MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 322 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GGGGTCGATGTCCCCCCAAATC 0.460 10 755 --- --- --- --- ABCA6 23460 broad.mit.edu 37 17 67083603 67083604 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:67083603_67083604insG ENST00000284425.2 - 29 3883_3884 c.3709_3710insC c.(3709-3711)aagfs p.K1237fs ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1237 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) ATCTCTACTTTGGGGGGAAATT 0.376 10 709 --- --- --- --- FAM104A 84923 broad.mit.edu 37 17 71223356 71223357 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr17:71223356_71223357insG ENST00000405159.3 - 2 332_333 c.268_269insC c.(268-270)gacfs p.D90fs FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs NM_001098832.1 NP_001092302.1 Q969W3 F104A_HUMAN family with sequence similarity 104, member A 90 endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 LUSC - Lung squamous cell carcinoma(166;0.197) TCTTTTGGTCTGGGGGGGAAGA 0.416 9 198 --- --- --- --- PTBP1 5725 broad.mit.edu 37 19 797500 797500 + Translation_Start_Site DEL G G - TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:797500delG ENST00000356948.6 + 0 426 PTBP1_ENST00000394601.4_Start_Codon_Del|PTBP1_ENST00000349038.4_Start_Codon_Del|PTBP1_ENST00000350092.4_Start_Codon_Del NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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) TGTGTGCCATGGACGGGTGAG 0.736 2 4 --- --- --- --- C3 718 broad.mit.edu 37 19 6697480 6697481 + Frame_Shift_Ins INS - - G rs137956083 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:6697480_6697481insG ENST00000245907.6 - 21 2762_2763 c.2670_2671insC c.(2668-2673)ccagtcfs p.V891fs NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 891 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AACGAGGACTTGGGGGGGATGG 0.574 8 159 --- --- --- --- SH2D3A 10045 broad.mit.edu 37 19 6754945 6754946 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:6754945_6754946insG ENST00000245908.6 - 5 1146_1147 c.877_878insC c.(877-879)gaafs p.E293fs SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.E171fs NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 293 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGGCCGATTCTGGGGGCCCAGC 0.599 7 356 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9064309 9064310 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:9064309_9064310insG ENST00000397910.4 - 3 23339_23340 c.23136_23137insC c.(23134-23139)ccctccfs p.S7713fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7715 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 GGAAGGGGAGAGGGGGGGATAT 0.530 8 285 --- --- --- --- ANGPTL6 83854 broad.mit.edu 37 19 10204185 10204186 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:10204185_10204186insC ENST00000253109.4 - 5 1299_1300 c.1061_1062insG c.(1060-1062)gcgfs p.A354fs ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.A354fs|ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.A314fs NM_031917.2 NP_114123.2 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 354 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1) 12 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) GTGCTCCACGGCCCCCCCAGTC 0.639 7 57 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769061 31769062 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:31769061_31769062insC ENST00000240587.4 - 2 1964_1965 c.1637_1638insG c.(1636-1638)gtafs p.V546fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 546 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TGCTGGGATAGCCCCCCCAGCT 0.559 10 188 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769141 31769142 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:31769141_31769142insC ENST00000240587.4 - 2 1884_1885 c.1557_1558insG c.(1555-1560)ggttgafs p.*520fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 520 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGGATATCAAGCCCCCCCTTGG 0.500 15 355 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43439519 43439520 + RNA INS - - C rs59911953 by1000genomes TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:43439519_43439520insC ENST00000406070.2 - 0 527 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) AATGACCCCTGCCCCCCAACAC 0.515 13 637 --- --- --- --- TEAD2 8463 broad.mit.edu 37 19 49850472 49850473 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:49850472_49850473insG ENST00000377214.4 - 8 1254_1255 c.892_893insC c.(892-894)tgcfs p.C298fs TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs Q15562 TEAD2_HUMAN TEA domain family member 2 295 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.H295fs*12(1) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAAGAAGGCATGGGGGGGGCCA 0.564 20 331 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50243063 50243064 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:50243063_50243064insG ENST00000246801.3 - 11 1830_1831 c.1748_1749insC c.(1747-1749)caafs p.Q583fs TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 583 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCCCCTGTTTTGGGGGGGTTCC 0.545 11 243 --- --- --- --- GPR32 2854 broad.mit.edu 37 19 51274914 51274915 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:51274914_51274915insC ENST00000270590.4 + 1 1194_1195 c.1057_1058insC c.(1057-1059)cccfs p.P353fs NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 353 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCGTGGCAACGCCCCCCGGGAA 0.525 7 127 --- --- --- --- KLK1 3816 broad.mit.edu 37 19 51326962 51326963 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr19:51326962_51326963insC ENST00000301420.2 - 1 77_78 c.42_43insG c.(40-45)ggctggfs p.W15fs KLK1_ENST00000448701.2_5'UTR NM_002257.2 NP_002248.1 P06870 KLK1_HUMAN kallikrein 1 15 proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCTCACCAGTCCCCCCCAGGG 0.653 9 215 --- --- --- --- NRSN2 80023 broad.mit.edu 37 20 333922 333923 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr20:333922_333923insC ENST00000382291.3 + 4 498_499 c.258_259insC c.(256-261)gtccccfs p.VP86fs NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 86 integral to membrane|plasma membrane|transport vesicle endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) GCTATGCAGTGCCCCCCAAGCT 0.644 11 277 --- --- --- --- CST4 1472 broad.mit.edu 37 20 23667825 23667826 + Frame_Shift_Ins INS - - C rs140501583 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr20:23667825_23667826insC ENST00000217423.3 - 2 311_312 c.241_242insG c.(241-243)gaafs p.E81fs NM_001899.2 NP_001890.1 P01036 CYTS_HUMAN cystatin S 81 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) GAAGTAATTCACCCCCCCAAAG 0.554 10 194 --- --- --- --- CNBD2 140894 broad.mit.edu 37 20 34618503 34618504 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr20:34618503_34618504insC ENST00000373973.3 + 12 1837_1838 c.1664_1665insC c.(1663-1665)cccfs p.P555fs CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs cyclic nucleotide binding domain containing 2 CAGAAATACCTCCCCCCATTGA 0.455 7 637 --- --- --- --- SLPI 6590 broad.mit.edu 37 20 43881730 43881731 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr20:43881730_43881731insG ENST00000338380.2 - 3 326_327 c.306_307insC c.(304-309)ccatttfs p.F103fs NM_003064.2 NP_003055.1 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 103 Elastase inhibitory domain.|WAP 2. extracellular region serine-type endopeptidase inhibitor activity lung(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) TCACAGAAATTGGGGGGGTTAA 0.535 11 249 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 28 571 --- --- --- --- OSBPL2 9885 broad.mit.edu 37 20 60854257 60854258 + Frame_Shift_Ins INS - - C rs79735057 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr20:60854257_60854258insC ENST00000313733.3 + 7 738_739 c.536_537insC c.(535-537)cccfs p.P179fs OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 179 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GTCAGTCACCACCCCCCCATCA 0.465 12 144 --- --- --- --- KRTAP26-1 388818 broad.mit.edu 37 21 31691917 31691918 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr21:31691917_31691918insG ENST00000360542.3 - 1 689_690 c.436_437insC c.(436-438)attfs p.I146fs NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 146 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 CAAGCAGAATTGGGGGCGATAG 0.550 7 428 --- --- --- --- CECR2 27443 broad.mit.edu 37 22 18022285 18022286 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr22:18022285_18022286insC ENST00000262608.8 + 15 2390_2391 c.2390_2391insC c.(2389-2391)gccfs p.A797fs CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 838 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AGACCACCTGTCCCCCCCAACC 0.609 7 127 --- --- --- --- BMS1P20 96610 broad.mit.edu 37 22 22661173 22661174 + RNA INS - - C rs7410785 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr22:22661173_22661174insC ENST00000426066.1 + 0 265_266 NR_027293.1 ATACAGGTTTTCCCCCCCCACC 0.406 10 88 --- --- --- --- DDX17 10521 broad.mit.edu 37 22 38895454 38895455 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr22:38895454_38895455insC ENST00000396821.3 - 3 587_588 c.488_489insG c.(487-489)ggafs p.G163fs DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 84 Helicase ATP-binding. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity p.G163fs*20(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GACAAACATCTCCCCCCCTCAC 0.381 10 163 --- --- --- --- SSX3 10214 broad.mit.edu 37 X 48207024 48207025 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chrX:48207024_48207025insC ENST00000298396.2 - 7 533_534 c.481_482insG c.(481-483)acafs p.T161fs SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 CCAGGCATGTTCCCCCCTTTTG 0.480 7 549 --- --- --- --- LINC01317 104355287 broad.mit.edu 37 2 34441226 34441227 + RNA DEL TG TG - rs10701526 TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr2:34441226_34441227delTG ENST00000366209.2 + 0 389 gaagtgtatatgtgtgtgtgtg 0.470 2 4 --- --- --- --- ENTPD3-AS1 285266 broad.mit.edu 37 3 40418607 40418610 + RNA DEL AGGA AGGA - rs112497421 TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:40418607_40418610delAGGA ENST00000439293.1 - 0 143 ggagggagggaggaaggaaggaag 0.554 5 6 --- --- --- --- SEMA3B 7869 broad.mit.edu 37 3 50314241 50314241 + RNA DEL T T - TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr3:50314241delT ENST00000418948.1 + 0 2588 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) ACATTGGGGGTCACCGGCCGA 0.622 2 4 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127768325 127768329 + Frame_Shift_Del DEL TTCTG TTCTG - TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr6:127768325_127768329delTTCTG ENST00000483725.3 - 5 1471_1475 c.1135_1139delCAGAA c.(1135-1140)afs p.QK379fs SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 379 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) AGAGCAGGTTTTCTGAAACCACGAA 0.434 9 273 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66459739 66459740 + RNA INS - - T rs141706281 TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr9:66459739_66459740insT ENST00000424345.1 + 0 67 atttctttcagttttttttttt 0.292 5 4 --- --- --- --- NPIPB3 23117 broad.mit.edu 37 16 21415876 21415894 + Frame_Shift_Del DEL GCGGCCCCCGCAGACGCTC GCGGCCCCCGCAGACGCTC - TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr16:21415876_21415894delGCGGCCCCCGCAGACGCTC ENST00000458643.2 - 7 1365_1383 c.814_832delGAGCGTCTGCGGGGGCCGC c.(814-834)ttfs p.ERLRGPL272fs NPIPB3_ENST00000448012.2_Frame_Shift_Del_p.PSVCGGR410fs|NPIPB3_ENST00000542817.1_Intron nuclear pore complex interacting protein family, member B3 GAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTC 0.562 2 4 --- --- --- --- LINC00669 647946 broad.mit.edu 37 18 37248431 37248454 + RNA DEL AGGGAGGAAGGAAGGAAGGAAGGA AGGGAGGAAGGAAGGAAGGAAGGA - rs141334489 by1000genomes TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr18:37248431_37248454delAGGGAGGAAGGAAGGAAGGAAGGA ENST00000591629.1 - 0 282 NR_024391.1 ggagggagggagggaggaaggaaggaaggaaggaaggaaggaag 0.402 5 9 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11089271 11089273 + RNA DEL CAC CAC - rs150553952 TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr21:11089271_11089273delCAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gtaatcccaacactttggaaggc 0.433 2 4 --- --- --- --- LINC00229 414351 broad.mit.edu 37 22 45015083 45015084 + RNA DEL GT GT - rs71810069 TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b b5d14d5a-4207-450e-9edb-106ab50ecbc7 g.chr22:45015083_45015084delGT ENST00000443783.1 - 0 390 NR_044991.1 gtactgtggagtgtgtgtgtgt 0.515 3 4 --- --- --- --- MYT1L 23040 broad.mit.edu 37 2 1947094 1947094 + Frame_Shift_Del DEL A A - TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr2:1947094delA ENST00000399161.2 - 9 912 c.165delT c.(163-165)tgfs p.C55fs MYT1L_ENST00000428368.2_Frame_Shift_Del_p.C55fs NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 55 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCGCCAAGGGACAACCATATA 0.418 2 4 --- --- --- --- OR10G8 219869 broad.mit.edu 37 11 123900396 123900397 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr11:123900396_123900397insC ENST00000431524.1 + 1 100_101 c.67_68insC c.(67-69)cccfs p.P23fs NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A23T(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGCGCTGGACGCCCCCCTCTTT 0.589 7 504 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 9 4 --- --- --- --- CLEC3A 10143 broad.mit.edu 37 16 78090272 78090272 + RNA DEL G G - TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr16:78090272delG ENST00000563114.1 - 0 41 CAGGCAGGGTGGCCAGCTTGC 0.527 2 4 --- --- --- --- CNTROB 116840 broad.mit.edu 37 17 7851879 7851880 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr17:7851879_7851880insG ENST00000380262.3 + 17 3380_3381 c.2455_2456insG c.(2455-2457)gggfs p.G819fs CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Frame_Shift_Ins_p.G819fs|CNTROB_ENST00000565740.1_Frame_Shift_Ins_p.G819fs NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 819 Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) GGCTCGGGGCTGGGGGGCTCTG 0.579 8 253 --- --- --- --- AF038458.3 0 broad.mit.edu 37 19 36448398 36448398 + RNA DEL T T - rs35742682 TCGA-AK-3443-01A-01W-0886-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99b7c42f-06e2-4ed9-83fa-954ef9993bf2 e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr19:36448398delT ENST00000592518.1 + 0 244 ACCATAACCCttttttttttt 0.498 2 4 --- --- --- --- PADI6 353238 broad.mit.edu 37 1 17699379 17699380 + RNA INS - - AC rs10690473 by1000genomes TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr1:17699379_17699380insAC ENST00000434762.2 + 0 166 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TCGGAGAGCAAACACAGGGGTC 0.569 4 3 --- --- --- --- LINC00969 440993 broad.mit.edu 37 3 195400639 195400641 + RNA DEL GTG GTG - rs145880653 TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr3:195400639_195400641delGTG ENST00000445430.1 + 0 1284 AGGTGGGCTTGTGGAGGAATGGG 0.552 4 9 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32521539 32521540 + RNA INS - - GAAA rs71843515 TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr6:32521539_32521540insGAAA ENST00000411500.1 - 0 851 NR_001298.1 GGTCATTTGGGGAAAGACTTTA 0.431 4 2 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127768325 127768329 + Frame_Shift_Del DEL TTCTG TTCTG - TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr6:127768325_127768329delTTCTG ENST00000483725.3 - 5 1471_1475 c.1135_1139delCAGAA c.(1135-1140)afs p.QK379fs SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 379 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) AGAGCAGGTTTTCTGAAACCACGAA 0.434 9 273 --- --- --- --- TRGC2 6967 broad.mit.edu 37 7 38284914 38284917 + RNA DEL CTGA CTGA - rs147429736 by1000genomes TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr7:38284914_38284917delCTGA ENST00000436911.2 - 0 330 gtgtgtgtgtctgagtgtgtctgt 0.392 16 72 --- --- --- --- STAG3L4 64940 broad.mit.edu 37 7 66767611 66767611 + RNA DEL T T - rs12531701 by1000genomes TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr7:66767611delT ENST00000416602.2 + 0 4 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) ACCGGACTGCTTTTTTTTTTT 0.542 3 5 --- --- --- --- TNKS 8658 broad.mit.edu 37 8 9413576 9413577 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr8:9413576_9413577insC ENST00000310430.6 + 1 153_154 c.127_128insC c.(127-129)cacfs p.H43fs RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Frame_Shift_Ins_p.H43fs|TNKS_ENST00000522110.1_Frame_Shift_Ins_p.H43fs NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 43 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) GGCCCCGGGGACCACCCCAGCC 0.748 7 45 --- --- --- --- RGS3 5998 broad.mit.edu 37 9 116356323 116356323 + Frame_Shift_Del DEL T T - TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr9:116356323delT ENST00000462403.1 + 1 558 c.124delT c.(124-126)ttfs p.F44fs RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000374134.3_Intron NM_144489.2 NP_652760.2 P49796 RGS3_HUMAN regulator of G-protein signaling 3 207 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CCAGAAGGAATTTTTTTTTCC 0.622 9 548 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 8 23 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000525482.1_3'UTR NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 6 6 --- --- --- --- C12orf43 64897 broad.mit.edu 37 12 121442108 121442109 + Frame_Shift_Ins INS - - G TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr12:121442108_121442109insG ENST00000445832.3 - 6 648_649 c.546_547insC c.(544-549)ccccagfs p.Q183fs C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000539736.1_Frame_Shift_Ins_p.Q203fs|C12orf43_ENST00000537817.1_Frame_Shift_Ins_p.Q214fs|C12orf43_ENST00000288757.3_Frame_Shift_Ins_p.Q213fs|C12orf43_ENST00000366211.2_Frame_Shift_Ins_p.Q172fs Q96C57 CL043_HUMAN chromosome 12 open reading frame 43 213 cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GCCATGCTGGTGGGGGTGGTGG 0.550 8 313 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65918177 65918179 + In_Frame_Del DEL CTG CTG - TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr15:65918177_65918179delCTG ENST00000261892.6 + 2 2046_2048 c.1759_1761delCTG c.(1759-1761)del p.L591del SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 591 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GTGGGAGAGCCTGCTGCTGCTGC 0.547 8 212 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 43 396 --- --- --- --- NPIPB3 23117 broad.mit.edu 37 16 21415876 21415894 + Frame_Shift_Del DEL GCGGCCCCCGCAGACGCTC GCGGCCCCCGCAGACGCTC - TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr16:21415876_21415894delGCGGCCCCCGCAGACGCTC ENST00000458643.2 - 7 1365_1383 c.814_832delGAGCGTCTGCGGGGGCCGC c.(814-834)ttfs p.ERLRGPL272fs NPIPB3_ENST00000448012.2_Frame_Shift_Del_p.PSVCGGR410fs|NPIPB3_ENST00000542817.1_Intron nuclear pore complex interacting protein family, member B3 GAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTC 0.562 2 4 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 8 86 --- --- --- --- MICAL3 57553 broad.mit.edu 37 22 18301237 18301238 + Frame_Shift_Ins INS - - C TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chr22:18301237_18301238insC ENST00000441493.2 - 26 4541_4542 c.4189_4190insG c.(4189-4191)gccfs p.A1397fs NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1397 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GGACAACGGCTCGCCTTCCGGC 0.644 11 339 --- --- --- --- KANTR 102723508 broad.mit.edu 37 X 53142508 53142509 + RNA INS - - A rs145002653 by1000genomes TCGA-AK-3443-01A-01D-0966-08 TCGA-AK-3443-10A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dc72bb8-02a6-41b1-a6d6-5c275a82f89b e9f65a55-337b-4a82-a85a-b0f9a68f599d g.chrX:53142508_53142509insA ENST00000604849.1 + 0 96 AACACACACACAAAAAAAAACC 0.356 6 5 --- --- --- ---