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 SMARCA1 6594 broad.mit.edu 37 X 128624133 128624133 + Missense_Mutation SNP G G T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:128624133G>T ENST00000371122.4 - 15 1981 c.1852C>A c.(1852-1854)Cgt>Agt p.R618S SMARCA1_ENST00000371121.3_Missense_Mutation_p.R606S|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R606S NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 618 Helicase C-terminal. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding p.R618C(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 CGGAATACACGTACTGGTTTC 0.368000 5 97 0.0215528 0.0216582 1 1 0 OR10G3 26533 broad.mit.edu 37 14 22037966 22037966 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr14:22037966G>A ENST00000303532.1 - 1 909 c.910C>T c.(910-912)Ctc>Ttc p.L304F NM_001005465.1 NP_001005465.1 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, member 3 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) GGGCTTCTGAGCATTCTTTTC 0.498000 26 37 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344019 53344019 + Missense_Mutation SNP G G A rs142875090 byFrequency TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:53344019G>A ENST00000595646.1 - 4 1648 c.1528C>T c.(1528-1530)Ctt>Ttt p.L510F ZNF468_ENST00000396409.4_Missense_Mutation_p.L457F|ZNF468_ENST00000390651.4_Missense_Mutation_p.L457F|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron Q5VIY5 ZN468_HUMAN zinc finger protein 468 510 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TGGTATACAAGGGATGACATC 0.433000 110 143 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65918056 65918056 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr15:65918056C>T ENST00000261892.6 + 2 1925 c.1638C>T c.(1636-1638)ttC>ttT p.F546F SLC24A1_ENST00000544319.2_Silent_p.F546F|SLC24A1_ENST00000537259.1_Silent_p.F546F|SLC24A1_ENST00000546330.1_Silent_p.F546F|SLC24A1_ENST00000399033.4_Silent_p.F546F|SLC24A1_ENST00000339868.6_Silent_p.F546F NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 546 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 GTTCCCTCTTCTCCCGAGAGA 0.502000 88 91 0 0 1 0 0 RBM41 55285 broad.mit.edu 37 X 106331704 106331704 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:106331704G>A ENST00000372487.1 - 5 915 c.889C>T c.(889-891)Cct>Tct p.P297S RBM41_ENST00000372479.3_Missense_Mutation_p.P297S|RBM41_ENST00000203616.8_Intron NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 297 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 GAAAACATAGGAATTTTTCGG 0.408000 117 129 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43163916 43163916 + Missense_Mutation SNP C C G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:43163916C>G ENST00000252050.4 + 10 2582 c.2498C>G c.(2497-2499)gCc>gGc p.A833G CUL9_ENST00000354495.3_Missense_Mutation_p.A723G|CUL9_ENST00000372647.2_Missense_Mutation_p.A833G NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 833 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GAGATCTTCGCCAGCATCGAC 0.567000 63 81 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141408663 141408663 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:141408663G>A ENST00000397541.2 + 1 511 c.105G>A c.(103-105)gaG>gaA p.E35E WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 35 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) AAAGCAGGGAGGCTTCGAGCC 0.463000 108 237 0 0 1 0 0 BAG6 7917 broad.mit.edu 37 6 31614291 31614291 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:31614291G>A ENST00000404765.2 - 8 1087 c.798C>T c.(796-798)tcC>tcT p.S266S BAG6_ENST00000439687.2_Silent_p.S266S|BAG6_ENST00000375964.6_Silent_p.S272S|BAG6_ENST00000211379.5_Silent_p.S266S|BAG6_ENST00000375976.4_Silent_p.S266S|BAG6_ENST00000362049.6_Silent_p.S266S P46379 BAG6_HUMAN BCL2-associated athanogene 6 272 4 X 29 AA approximate repeats.|Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 ACTCCGCAGGGGAAGGATGGC 0.597000 46 94 0 0 1 0 0 PIGM 93183 broad.mit.edu 37 1 160000284 160000284 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:160000284G>A ENST00000368090.2 - 1 1499 c.1246C>T c.(1246-1248)Ctg>Ttg p.L416L NM_145167.2 NP_660150.1 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, class M 416 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTCTCTGTCAGGGGTTCTTCT 0.378000 145 116 0 0 1 0 0 WASH6P 653440 broad.mit.edu 37 X 155252855 155252855 + RNA SNP A A C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:155252855A>C ENST00000285718.7 + 0 806 WASH6P_ENST00000461007.1_RNA TTCCACACTGAGGTAGCCGAG 0.647000 5 10 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52650225 52650225 + Missense_Mutation SNP T T A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr13:52650225T>A ENST00000355568.4 - 19 1841 c.1702A>T c.(1702-1704)Aat>Tat p.N568Y NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 568 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) TGTTCTGGATTTTTACTTTCC 0.353000 26 16 0 0 1 0 0 UGT1A7 54577 broad.mit.edu 37 2 234591368 234591368 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:234591368C>T ENST00000373426.3 + 1 785 c.785C>T c.(784-786)cCc>cTc p.P262L UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_019077.2 NP_061950.2 NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1) 33 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) TTGGAGTATCCCAAACCCGTG 0.438000 124 229 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49910142 49910142 + Splice_Site SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:49910142G>A ENST00000447857.3 + 10 1003 c.e10-1 NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 CCTTCTTCTAGAACGGGAAGC 0.473000 13 12 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54922110 54922110 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:54922110C>T ENST00000293373.6 + 22 2534 c.2455C>T c.(2455-2457)Ccc>Tcc p.P819S NCKAP1L_ENST00000545638.2_Missense_Mutation_p.P769S NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 819 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CGTCAGCCTGCCCAGAGAAGG 0.557000 86 135 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30702391 30702391 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:30702391C>T ENST00000471646.1 - 6 1033 c.616G>A c.(616-618)Ggc>Agc p.G206S CRHR2_ENST00000506074.2_Missense_Mutation_p.G206S|CRHR2_ENST00000341843.4_Missense_Mutation_p.G192S|CRHR2_ENST00000348438.4_Missense_Mutation_p.G233S NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 206 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGGTAGCAGCCTTCCACAAAC 0.577000 39 68 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40400729 40400729 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:40400729C>T ENST00000338305.6 - 2 666 c.124G>A c.(124-126)Ggg>Agg p.G42R NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 42 LRRNT. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AAGAGCAGCCCCTTGGAGGGG 0.602000 46 60 0 0 1 0 0 ZNF628 89887 broad.mit.edu 37 19 55992601 55992601 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:55992601C>T ENST00000391718.2 + 3 594 c.29C>T c.(28-30)cCg>cTg p.P10L ZNF628_ENST00000598519.1_Missense_Mutation_p.P14L Q5EBL2 ZN628_HUMAN zinc finger protein 628 10 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) GACATGGCGCCGGCCTCTACT 0.687000 7 11 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983881 97983881 + Silent SNP A A G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:97983881A>G ENST00000383696.2 + 1 794 c.753A>G c.(751-753)cgA>cgG p.R251R RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AAGGGATACGAAAAGCTGTCT 0.403000 23 58 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769211 247769211 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:247769211C>T ENST00000320002.2 + 1 356 c.324C>T c.(322-324)ggC>ggT p.G108G RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGCACTGGGCTCCACTGAAT 0.498000 257 166 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104319679 104319679 + Missense_Mutation SNP T T C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr9:104319679T>C ENST00000389120.3 + 16 2273 c.2183T>C c.(2182-2184)cTc>cCc p.L728P NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 728 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) GAAGAAGCACTCCTCTCTGAA 0.418000 47 5 0 0 1 0 0 RASGEF1A 221002 broad.mit.edu 37 10 43692427 43692427 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr10:43692427C>T ENST00000395809.1 - 11 3851 c.1345G>A c.(1345-1347)Gaa>Aaa p.E449K RASGEF1A_ENST00000395810.1_Missense_Mutation_p.E449K|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.E457K Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 449 Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 CCCTCACCTTCCTCGCTGTAG 0.582000 18 24 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 19 0.115264 0.115545 1 1 0 GRIN2A 2903 broad.mit.edu 37 16 10273957 10273957 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:10273957C>T ENST00000396573.2 - 3 621 c.312G>A c.(310-312)acG>acA p.T104T GRIN2A_ENST00000404927.2_Silent_p.T104T|GRIN2A_ENST00000396575.2_Silent_p.T104T|GRIN2A_ENST00000330684.3_Silent_p.T104T|GRIN2A_ENST00000562109.1_Silent_p.T104T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 104 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCTCCTGGTCCGTGTCGTCCC 0.602000 71 86 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100124563 100124563 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr9:100124563G>A ENST00000375202.2 + 42 5226 c.3874G>A c.(3874-3876)Ggc>Agc p.G1292S RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000529487.1_Missense_Mutation_p.G1292S|CCDC180_ENST00000357054.1_Intron coiled-coil domain containing 180 TGGGTCTCGGGGCAGCAGTGA 0.592000 87 16 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003771 122003771 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:122003771G>A ENST00000498619.1 + 7 3438 c.3000G>A c.(2998-3000)agG>agA p.R1000R CASR_ENST00000296154.5_Silent_p.R990R|CASR_ENST00000490131.1_Silent_p.R990R NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 990 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TGGCCCACAGGAATTCTACGC 0.577000 32 34 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56357849 56357849 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:56357849G>A ENST00000370754.5 - 84 20339 c.20340C>T c.(20338-20340)ttC>ttT p.F6780F DST_ENST00000361203.3_Silent_p.F6491F|DST_ENST00000370788.2_Silent_p.F4405F|DST_ENST00000244364.6_Silent_p.F4188F|DST_ENST00000370769.4_Silent_p.F6602F|DST_ENST00000421834.2_Silent_p.F4514F|DST_ENST00000446842.2_Silent_p.F6276F|DST_ENST00000312431.6_3'UTR Q03001 DYST_HUMAN dystonin 6600 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GAGAATTGTGGAACTCCATTG 0.428000 12 27 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123842581 123842581 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr10:123842581C>T ENST00000369005.1 + 4 906 c.566C>T c.(565-567)tCc>tTc p.S189F TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S189F|TACC2_ENST00000453444.2_Missense_Mutation_p.S189F|TACC2_ENST00000515273.1_Missense_Mutation_p.S189F|TACC2_ENST00000334433.3_Missense_Mutation_p.S189F|TACC2_ENST00000513429.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 189 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TCCTCCTTCTCCTTCTCCAGT 0.582000 27 19 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100124562 100124562 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr9:100124562G>A ENST00000375202.2 + 42 5225 c.3873G>A c.(3871-3873)cgG>cgA p.R1291R RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000529487.1_Silent_p.R1291R|CCDC180_ENST00000357054.1_Intron coiled-coil domain containing 180 GTGGGTCTCGGGGCAGCAGTG 0.587000 86 15 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173352085 173352085 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:173352085C>T ENST00000375221.2 + 16 2384 c.2181C>T c.(2179-2181)ccC>ccT p.P727P ITGA6_ENST00000264107.7_Silent_p.P688P|ITGA6_ENST00000409532.1_Silent_p.P569P|ITGA6_ENST00000409080.1_Silent_p.P688P|ITGA6_ENST00000343713.4_Silent_p.P683P|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Silent_p.P727P P23229 ITA6_HUMAN integrin, alpha 6 727 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity p.P688P(1) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CAAGGAATCCCACAAAAGATG 0.408000 51 45 0 0 1 0 0 RHBDD1 84236 broad.mit.edu 37 2 227729455 227729455 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:227729455C>T ENST00000392062.2 + 4 570 c.46C>T c.(46-48)Ctt>Ttt p.L16F RHBDD1_ENST00000341329.3_Missense_Mutation_p.L16F NM_001167608.1 NP_001161080.1 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 16 integral to membrane serine-type endopeptidase activity breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) TATTCTACTCCTTTCTCAAAT 0.458000 76 111 0 0 1 0 0 CXXC4 80319 broad.mit.edu 37 4 105393494 105393494 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr4:105393494G>A ENST00000394767.2 - 3 1539 c.1089C>T c.(1087-1089)ttC>ttT p.F363F CXXC4_ENST00000426831.1_Silent_p.F194F|CXXC4_ENST00000466963.1_5'UTR NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 194 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) AGAACCATCGGAATGCTTCAG 0.343000 61 84 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180634402 180634402 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:180634402C>T ENST00000410066.1 - 3 684 c.81G>A c.(79-81)gaG>gaA p.E27E NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 27 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) TTTTCTTTTTCTCTTTGCTCA 0.463000 51 66 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44670091 44670091 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr20:44670091C>T ENST00000454036.1 + 8 1123 c.1047C>T c.(1045-1047)ttC>ttT p.F349F SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.F326F NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 349 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCTCTCGCTTCCTCAACGCCA 0.567000 59 67 0 0 1 0 0 KDM8 79831 broad.mit.edu 37 16 27224962 27224962 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:27224962C>T ENST00000286096.4 + 3 728 c.555C>T c.(553-555)ccC>ccT p.P185P KDM8_ENST00000441782.2_Silent_p.P223P|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000568965.1_Intron|CTD-3203P2.1_ENST00000567108.1_RNA NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 185 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen AAACAGTCCCCCGGCTGCACC 0.517000 51 85 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13920608 13920608 + Nonsense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr5:13920608C>T ENST00000265104.4 - 6 883 c.779G>A c.(778-780)tGg>tAg p.W260* NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 260 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGTTTGATCCATACTTTCAT 0.398000 Kartagener syndrome 59 76 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55027511 55027511 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr20:55027511G>A ENST00000371336.3 + 5 1480 c.1279G>A c.(1279-1281)Gag>Aag p.E427K CASS4_ENST00000360314.3_Missense_Mutation_p.E427K|CASS4_ENST00000434344.1_Intron NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 427 Ser-rich. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CTCTTCCTCGGAGGAGTCAGC 0.567000 18 37 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231162144 231162144 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:231162144G>A ENST00000392045.3 + 22 2139 c.2025G>A c.(2023-2025)ctG>ctA p.L675L SP140_ENST00000417495.3_Silent_p.L561L|SP140_ENST00000486687.2_Silent_p.L599L|SP140_ENST00000420434.3_Silent_p.L648L|SP140_ENST00000343805.6_Silent_p.L615L|SP140_ENST00000350136.5_Silent_p.L544L NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 675 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGAGAATACTGAAGTCTCAAA 0.338000 33 45 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78443553 78443553 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr11:78443553C>T ENST00000278550.7 - 21 3408 c.2946G>A c.(2944-2946)caG>caA p.Q982Q NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GGGTGTGCTCCTGTGTGATGA 0.532000 20 49 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103281714 103281714 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:103281714C>T ENST00000233969.2 + 3 1051 c.909C>T c.(907-909)acC>acT p.T303T NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 303 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CTCGATTCACCCATAATATCC 0.453000 70 87 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167794010 167794010 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:167794010G>A ENST00000367848.1 - 27 4055 c.3558C>T c.(3556-3558)gcC>gcT p.A1186A ADCY10_ENST00000545172.1_Silent_p.A1125A|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.A1278A Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1278 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TGTGCTCCATGGCCATGACTT 0.493000 157 110 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16026279 16026279 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr8:16026279C>T ENST00000350896.3 - 4 515 c.318G>A c.(316-318)gaG>gaA p.E106E MSR1_ENST00000381998.4_Silent_p.E106E|MSR1_ENST00000445506.2_Silent_p.E124E|MSR1_ENST00000262101.5_Silent_p.E106E|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Silent_p.E106E NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 106 Spacer (Probable). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) ATCTCATTTCCTCTTCGCTGT 0.408000 76 107 0 0 1 0 0 SENP2 59343 broad.mit.edu 37 3 185337174 185337174 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:185337174C>T ENST00000296257.5 + 13 1570 c.1330C>T c.(1330-1332)Cct>Tct p.P444S SENP2_ENST00000545472.1_Missense_Mutation_p.P434S|SENP2_ENST00000427465.2_Missense_Mutation_p.P268S NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 444 Protease. 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) TTTCTTCTATCCTAAATTAAA 0.368000 26 54 0 0 1 0 0 CCDC64B 146439 broad.mit.edu 37 16 3085469 3085469 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:3085469G>A ENST00000572449.1 - 2 91 c.29C>T c.(28-30)cCg>cTg p.P10L RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Missense_Mutation_p.P10L A1A5D9 BICR2_HUMAN coiled-coil domain containing 64B 10 breast(1)|endometrium(2)|large_intestine(1) 4 CGGCCCGGACGGGAAGCTGGG 0.687000 24 32 0 0 1 0 0 SLC16A14 151473 broad.mit.edu 37 2 230910901 230910901 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:230910901C>T ENST00000295190.4 - 4 1399 c.941G>A c.(940-942)cGa>cAa p.R314Q NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 314 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TACAAACATTCGATTTGTAAA 0.453000 24 49 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028355 37028355 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:37028355G>A ENST00000358047.3 + 1 1924 c.1872G>A c.(1870-1872)gaG>gaA p.E624E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 624 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGCCTCCTGAGACTGGAGTGT 0.642000 85 98 0 0 1 0 0 GET4 51608 broad.mit.edu 37 7 931927 931927 + Silent SNP A A G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:931927A>G ENST00000407192.1 + 5 2976 c.459A>G c.(457-459)ttA>ttG p.L153L GET4_ENST00000265857.3_Silent_p.L206L Q7L5D6 GET4_HUMAN golgi to ER traffic protein 4 homolog (S. cerevisiae) 206 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TTCTCTGTTTAAAAAACAAAA 0.562000 116 221 0 0 1 0 0 C7orf55-LUC7L2 100996928 broad.mit.edu 37 7 139090466 139090466 + Missense_Mutation SNP A A T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:139090466A>T ENST00000354926.4 + 5 797 c.443A>T c.(442-444)aAt>aTt p.N148I LUC7L2_ENST00000541515.3_Missense_Mutation_p.N214I|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.N145I|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.N147I NM_016019.3 NP_057103.2 GCTGAAGGGAATGTGGAGGAA 0.373000 37 30 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45153717 45153717 + Silent SNP C C A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:45153717C>A ENST00000296129.1 - 3 647 c.513G>T c.(511-513)gtG>gtT p.V171V CDCP1_ENST00000425231.2_Silent_p.V171V NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 171 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CGATCCTGACCACGGTGGCAT 0.577000 76 112 2.15109e-50 2.23822e-50 1 1 0 DOCK3 1795 broad.mit.edu 37 3 51267026 51267026 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:51267026G>A ENST00000266037.9 + 19 1926 c.1903G>A c.(1903-1905)Gag>Aag p.E635K NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 635 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TGTCAGTGGGGAGGAAATTGT 0.468000 17 19 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102293008 102293008 + RNA SNP A A G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr15:102293008A>G ENST00000561463.1 + 0 1054 p.K171E(1) GCGTGGGAACAAGAAGACACT 0.582000 3 18 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49737905 49737905 + Splice_Site SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:49737905G>A ENST00000327697.6 + 14 1255 c.1110_splice c.e14-1 p.D371_splice RNF123_ENST00000432042.1_Splice_Site_p.D225_splice NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 371 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CTTCCCCCAGGACTACGAGGT 0.572000 51 75 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49110387 49110387 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:49110387G>A ENST00000261900.3 - 1 294 c.72C>T c.(70-72)tcC>tcT p.S24S NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 24 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 CAAAACGACGGGATGGGCTAT 0.517000 OREG0021767 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 101 165 0 0 1 0 0 PRSS57 400668 broad.mit.edu 37 19 687185 687185 + Missense_Mutation SNP T T G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:687185T>G ENST00000329267.7 - 4 414 c.385A>C c.(385-387)Aac>Cac p.N129H NM_214710.3 NP_999875.1 Q6UWY2 PRS57_HUMAN protease, serine, 57 129 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|lung(5) 6 GCAGAGCCGTTCAGCTGCAGG 0.692000 5 17 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143748366 143748366 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:143748366G>A ENST00000408906.2 + 1 906 c.872G>A c.(871-873)aGc>aAc p.S291N NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TTGATCTATAGCCTGAGGAAC 0.517000 67 165 0 0 1 0 0 ACHE 43 broad.mit.edu 37 7 100490199 100490199 + Missense_Mutation SNP T T C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:100490199T>C ENST00000302913.4 - 3 1447 c.1309A>G c.(1309-1311)Aat>Gat p.N437D ACHE_ENST00000419336.2_Intron|ACHE_ENST00000412389.1_Missense_Mutation_p.N437D|ACHE_ENST00000241069.5_Missense_Mutation_p.N437D|ACHE_ENST00000411582.1_Missense_Mutation_p.N437D|ACHE_ENST00000428317.1_Missense_Mutation_p.N437D NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 437 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CACACGACATTGTGGTCGCCC 0.672000 24 78 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111317745 111317745 + Silent SNP T T C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:111317745T>C ENST00000308208.5 + 6 767 c.525T>C c.(523-525)aaT>aaC p.N175N CCDC63_ENST00000545036.1_Silent_p.N135N|CCDC63_ENST00000552694.1_Silent_p.N96N|CCDC63_ENST00000550317.1_Intron NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 175 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TGACCACTAATGCCAAGCTCC 0.453000 101 144 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584927 82584927 + Missense_Mutation SNP T T C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:82584927T>C ENST00000423517.2 - 5 5679 c.5342A>G c.(5341-5343)gAg>gGg p.E1781G PCLO_ENST00000333891.8_Missense_Mutation_p.E1781G NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1712 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTCTTCTTCCTCTCTCAATTC 0.383000 133 69 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58621104 58621104 + Splice_Site SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:58621104C>T ENST00000317147.5 - 6 766 c.e6+1 CNOT1_ENST00000569240.1_Splice_Site|CNOT1_ENST00000441024.2_Splice_Site NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AAGTAACTCACCGAAACCTCT 0.363000 30 45 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27761264 27761264 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:27761264G>A ENST00000261588.4 + 16 3002 c.2983G>A c.(2983-2985)Gga>Aga p.G995R NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 995 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CGGCCTCAACGGAATAGAAAT 0.483000 17 31 0 0 1 0 0 APOBEC3G 60489 broad.mit.edu 37 22 39479784 39479784 + Silent SNP T T C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr22:39479784T>C ENST00000407997.3 + 5 987 c.630T>C c.(628-630)ccT>ccC p.P210P APOBEC3G_ENST00000452957.2_Silent_p.P210P|APOBEC3G_ENST00000461827.1_3'UTR NM_021822.3 NP_068594.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1) 12 Melanoma(58;0.04) ACAATGAACCTTGGGTCAGAG 0.532000 35 91 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25677918 25677918 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr4:25677918C>T ENST00000382051.3 + 13 1670 c.1620C>T c.(1618-1620)atC>atT p.I540I SLC34A2_ENST00000503434.1_Silent_p.I539I|SLC34A2_ENST00000504570.1_Silent_p.I539I NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 540 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TCTTCCTGATCCCGCTGACGG 0.607000 T ROS1 NSCLC 93 118 0 0 1 0 0 PBX1 5087 broad.mit.edu 37 1 164769116 164769116 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:164769116C>T ENST00000420696.2 + 4 879 c.691C>T c.(691-693)Ctg>Ttg p.L231L PBX1_ENST00000540246.1_Silent_p.L126L|PBX1_ENST00000367897.1_Silent_p.L231L|PBX1_ENST00000540236.1_Silent_p.L231L|PBX1_ENST00000560641.1_Silent_p.L126L|PBX1_ENST00000559240.1_Silent_p.L231L|PBX1_ENST00000401534.1_Silent_p.L231L NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 231 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 TTCCCGATTTCTGGATGCGCG 0.612000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 49 24 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65502060 65502060 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr15:65502060G>A ENST00000261883.4 - 2 200 c.34C>T c.(34-36)Ctg>Ttg p.L12L NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 12 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 TCCAGGACCAGGAAGGAGAAC 0.547000 44 53 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6825346 6825346 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:6825346G>A ENST00000304076.2 + 8 850 c.756G>A c.(754-756)aaG>aaA p.K252K VAV1_ENST00000602142.1_Silent_p.K252K|VAV1_ENST00000599806.1_Silent_p.K197K|VAV1_ENST00000596764.1_Silent_p.K220K|VAV1_ENST00000539284.1_Silent_p.K155K NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 252 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 ACTTCCTAAAGGAGATGAAGG 0.587000 25 38 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61958165 61958165 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr10:61958165C>T ENST00000280772.1 - 14 1813 c.1622G>A c.(1621-1623)cGa>cAa p.R541Q ANK3_ENST00000503366.1_Missense_Mutation_p.R524Q|ANK3_ENST00000373827.2_Missense_Mutation_p.R535Q NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 541 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ATGCCCCTCTCGGGCGGAAAG 0.507000 47 49 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136088003 136088003 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:136088003C>T ENST00000383202.2 - 24 2748 c.2492G>A c.(2491-2493)aGt>aAt p.S831N STAG1_ENST00000236698.5_Missense_Mutation_p.S831N|STAG1_ENST00000536929.1_Missense_Mutation_p.S415N|STAG1_ENST00000434713.2_Missense_Mutation_p.S605N NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 831 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 CATCACAAAACTGAGGAGTTC 0.423000 33 29 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14792848 14792848 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr9:14792848G>A ENST00000380881.4 - 23 4692 c.3877C>T c.(3877-3879)Cgt>Tgt p.R1293C FREM1_ENST00000380880.3_Missense_Mutation_p.R1292C|FREM1_ENST00000422223.2_Missense_Mutation_p.R1292C Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1292 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GAAATAATACGAGTTTCACCC 0.368000 6 1 0 0 1 0 0 EFHC2 80258 broad.mit.edu 37 X 44089003 44089003 + Missense_Mutation SNP A A C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:44089003A>C ENST00000420999.1 - 11 1726 c.1643T>G c.(1642-1644)cTt>cGt p.L548R NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 548 calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 TTGTAGGGCAAGTTTGAGGTT 0.398000 11 128 0 0 1 0 0 C16orf93 90835 broad.mit.edu 37 16 30768806 30768806 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:30768806C>T ENST00000543610.1 - 9 1948 c.987G>A c.(985-987)aaG>aaA p.K329K PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_Intron|C16orf93_ENST00000541260.1_Silent_p.K394K NM_001014979.2 NP_001014979.2 A1A4V9 CP093_HUMAN chromosome 16 open reading frame 93 329 breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6) 11 GTCACTTGGTCTTGCTCTTGC 0.587000 171 222 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44846015 44846015 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr21:44846015C>T ENST00000270162.6 - 2 176 c.44G>A c.(43-45)gGt>gAt p.G15D NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 15 G -> S (in dbSNP:rs3746951). anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 CTGGCCCTGACCCTGGCCCGC 0.692000 4 1 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49207099 49207099 + Missense_Mutation SNP G G A rs79097987 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:49207099G>A ENST00000425340.2 + 2 1003 c.886G>A c.(886-888)Gca>Aca p.A296T FUT2_ENST00000391876.4_Missense_Mutation_p.A296T NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 296 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) GATCTGGGCCGCATACCTCAC 0.557000 5 199 0 0 1 0 0 MRO 83876 broad.mit.edu 37 18 48327809 48327809 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr18:48327809C>T ENST00000428869.2 - 7 753 c.495G>A c.(493-495)agG>agA p.R165R MRO_ENST00000588444.1_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000256425.2_Silent_p.R165R|MRO_ENST00000398439.3_Silent_p.R165R|MRO_ENST00000436348.2_Silent_p.R179R|MRO_ENST00000431965.2_Intron Q9BYG7 MSTRO_HUMAN maestro 165 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) TTTTCCATTTCCTCCCGGCAA 0.468000 101 103 0 0 1 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20170146 20170146 + RNA SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr15:20170146C>T ENST00000338912.5 - 0 125 ATCCAGAAGCCTTGCAGGAGA 0.582000 77 72 0 0 1 0 0 SLC34A1 6569 broad.mit.edu 37 5 176824842 176824842 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr5:176824842C>T ENST00000324417.5 + 13 1566 c.1475C>T c.(1474-1476)cCc>cTc p.P492L SLC34A1_ENST00000513614.1_3'UTR NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 492 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TACCCGGTGCCCTGCACACGC 0.607000 49 86 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109782121 109782121 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr4:109782121G>A ENST00000399132.1 - 23 1734 c.1204C>T c.(1204-1206)Cgt>Tgt p.R402C COL25A1_ENST00000399127.1_Missense_Mutation_p.R383C|COL25A1_ENST00000399126.1_Missense_Mutation_p.R402C NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 402 Collagen-like 5. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) TTTTCTCCACGATCCCCCTTT 0.438000 31 42 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123842582 123842582 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr10:123842582C>T ENST00000369005.1 + 4 907 c.567C>T c.(565-567)tcC>tcT p.S189S TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.S189S|TACC2_ENST00000453444.2_Silent_p.S189S|TACC2_ENST00000515273.1_Silent_p.S189S|TACC2_ENST00000334433.3_Silent_p.S189S|TACC2_ENST00000513429.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 189 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCTCCTTCTCCTTCTCCAGTG 0.577000 28 19 0 0 1 0 0 MKS1 54903 broad.mit.edu 37 17 56291167 56291167 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:56291167G>A ENST00000393119.2 - 7 782 c.708C>T c.(706-708)atC>atT p.I236I MKS1_ENST00000313863.6_Silent_p.I236I|MKS1_ENST00000537529.2_Silent_p.I226I|MKS1_ENST00000337050.7_Silent_p.I236I|MKS1_ENST00000546108.1_Silent_p.I33I NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 236 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 GCTTTACTGTGATCACACCAT 0.478000 40 54 0 0 1 0 0 CLDN6 9074 broad.mit.edu 37 16 3065466 3065466 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:3065466G>A ENST00000396925.1 - 3 985 c.557C>T c.(556-558)cCc>cTc p.P186L CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.P186L P56747 CLD6_HUMAN claudin 6 186 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 CCCCCCCGAGGGGCAAGTGCA 0.652000 26 40 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67801047 67801047 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr13:67801047C>T ENST00000544246.1 - 2 2217 c.1526G>A c.(1525-1527)gGa>gAa p.G509E PCDH9_ENST00000377861.3_Missense_Mutation_p.G509E|PCDH9_ENST00000456367.1_Missense_Mutation_p.G509E|PCDH9_ENST00000328454.5_Missense_Mutation_p.G509E|PCDH9_ENST00000377865.2_Missense_Mutation_p.G509E NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 509 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GGCATTCGGTCCAAGCTGATA 0.408000 39 36 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110420353 110420353 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr8:110420353G>A ENST00000378402.5 + 18 1993 c.1889G>A c.(1888-1890)gGa>gAa p.G630E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 630 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAAACCAAAGGAAAACCCAAC 0.403000 HNSCC(38;0.096) 29 31 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88887529 88887529 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:88887529C>T ENST00000303236.3 - 8 1701 c.1400G>A c.(1399-1401)gGt>gAt p.G467D EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G316D NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 467 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 TGAAAGTGCACCATTACTATA 0.284000 19 29 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53045768 53045768 + Silent SNP G G A rs142748186 byFrequency TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:53045768G>A ENST00000309680.3 - 1 180 c.159C>T c.(157-159)ttC>ttT p.F53F NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 53 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) CGCCTCCACCGAAGCCCCCGC 0.632000 31 32 0 0 1 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492584 21492584 + Nonsense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr20:21492584G>A ENST00000377142.4 - 2 1155 c.799C>T c.(799-801)Cag>Tag p.Q267* NKX2-2-AS1_ENST00000549659.1_RNA NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 267 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 TGCTGGGCCTGGACCAGGGGG 0.711000 28 40 0 0 1 0 0 PDPR 55066 broad.mit.edu 37 16 70162917 70162917 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:70162917C>T ENST00000288050.4 + 6 1456 c.499C>T c.(499-501)Cat>Tat p.H167Y PDPR_ENST00000398122.3_Missense_Mutation_p.H67Y|PDPR_ENST00000568530.1_Missense_Mutation_p.H167Y NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 167 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) CGAGCTTCACCATCTCCTCAA 0.562000 66 365 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344021 53344021 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:53344021G>A ENST00000595646.1 - 4 1646 c.1526C>T c.(1525-1527)tCc>tTc p.S509F ZNF468_ENST00000396409.4_Missense_Mutation_p.S456F|ZNF468_ENST00000390651.4_Missense_Mutation_p.S456F|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron Q5VIY5 ZN468_HUMAN zinc finger protein 468 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) GTATACAAGGGATGACATCTG 0.428000 108 143 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76893588 76893588 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr11:76893588G>A ENST00000409709.3 + 25 3500 c.3228G>A c.(3226-3228)gaG>gaA p.E1076E MYO7A_ENST00000409619.2_Silent_p.E1065E|MYO7A_ENST00000458637.2_Silent_p.E1076E|MYO7A_ENST00000409893.1_Silent_p.E1076E NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1076 MyTH4 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGATTTATGAGACCCTGGGCA 0.597000 82 35 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33136331 33136331 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:33136331C>T ENST00000341947.2 - 54 4152 c.3925G>A c.(3925-3927)Ggg>Agg p.G1309R COL11A2_ENST00000374712.1_Missense_Mutation_p.G1228R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1249R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1223R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1262R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1283R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1288R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1202R NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1309 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.G1309R(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCATTCTCCCCGGTGGGACCA 0.632000 26 31 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42563530 42563530 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:42563530C>T ENST00000262895.3 - 5 657 c.658G>A c.(658-660)Gcc>Acc p.A220T GRIK5_ENST00000593562.1_Missense_Mutation_p.A220T|GRIK5_ENST00000301218.4_Missense_Mutation_p.A220T NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 220 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) GAGATGGAGGCGTTGGCGTCG 0.582000 48 67 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459922 66459922 + RNA SNP A A T rs145161395 by1000genomes TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr9:66459922A>T ENST00000424345.1 + 0 182 ggcatgcagcaccatatgaga 0.363000 3 7 0 0 1 0 0 GALC 2581 broad.mit.edu 37 14 88417024 88417024 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr14:88417024G>A ENST00000261304.2 - 11 1336 c.1230C>T c.(1228-1230)acC>acT p.T410T GALC_ENST00000393568.4_Silent_p.T387T|GALC_ENST00000544807.2_Silent_p.T354T|GALC_ENST00000393569.2_Silent_p.T384T NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 410 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TAAGAACAAAGGTGGCAAATT 0.289000 22 32 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77387774 77387774 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:77387774C>T ENST00000282849.5 - 10 1888 c.1470G>A c.(1468-1470)caG>caA p.Q490Q NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 490 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GACACCCCGCCTGAGGTGTGC 0.423000 68 79 0 0 1 0 0 TRMT10A 93587 broad.mit.edu 37 4 100480508 100480508 + Splice_Site SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr4:100480508C>T ENST00000273962.3 - 2 301 c.e2-1 TRMT10A_ENST00000394876.2_5'UTR|TRMT10A_ENST00000394877.3_Splice_Site NM_152292.4 NP_689505.1 tRNA methyltransferase 10 homolog A (S. cerevisiae) TTTGGTGCCTCTGAAAAACAA 0.284000 23 32 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906829 13906829 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:13906829G>A ENST00000279593.3 - 3 641 c.432C>T c.(430-432)ttC>ttT p.F144F NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 144 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGCCAAACTGGAAGAACATGG 0.393000 16 26 0 0 1 0 0 MIR323A 442897 broad.mit.edu 37 14 101492103 101492103 + RNA SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr14:101492103C>T ENST00000362199.1 + 0 35 NR_029890.1 GTGGCGCGTTCGCTTTATTTA 0.552000 76 110 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225591019 225591019 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:225591019G>A ENST00000338179.2 - 14 1959 c.1834C>T c.(1834-1836)Cca>Tca p.P612S LBR_ENST00000272163.4_Missense_Mutation_p.P612S NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 612 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) TAGATGTATGGAAATATACGG 0.433000 74 55 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21109121 21109121 + Missense_Mutation SNP A A C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr14:21109121A>C ENST00000320704.3 - 1 729 c.730T>G c.(730-732)Tgt>Ggt p.C244G NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TGGGAGGTACAGGTAGAGAAG 0.532000 56 79 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119456780 119456780 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:119456780C>T ENST00000369429.3 - 6 893 c.884G>A c.(883-885)cGa>cAa p.R295Q TBX15_ENST00000207157.3_Missense_Mutation_p.R189Q Q96SF7 TBX15_HUMAN T-box 15 295 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) AAAAGGGTTTCGGTCAATTTT 0.338000 24 39 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 5 30 0 0 1 0 0 TOP3B 8940 broad.mit.edu 37 22 22318362 22318362 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr22:22318362C>T ENST00000398793.2 - 11 1571 c.1137G>A c.(1135-1137)cgG>cgA p.R379R TOP3B_ENST00000357179.5_Silent_p.R379R|TOP3B_ENST00000413067.2_Silent_p.R108R NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 379 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) CATGGCCTTTCCGCGGGCGGT 0.612000 40 97 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17052041 17052041 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:17052041C>T ENST00000418129.2 + 2 1290 c.825C>T c.(823-825)tcC>tcT p.S275S PLCL2_ENST00000432376.1_Silent_p.S275S|PLCL2_ENST00000396755.2_Silent_p.S275S|PLCL2_ENST00000460467.1_Intron NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 401 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GCTGGCTCTCCATAGACGGGT 0.413000 53 78 0 0 1 0 0 DEFA4 1669 broad.mit.edu 37 8 6794287 6794287 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr8:6794287G>A ENST00000297435.2 - 2 259 c.135C>T c.(133-135)tcC>tcT p.S45S NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 45 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CCCATGCAAAGGAAATAGATA 0.562000 48 67 0 0 1 0 0 PSKH2 85481 broad.mit.edu 37 8 87081704 87081704 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr8:87081704G>A ENST00000276616.2 - 1 222 c.148C>T c.(148-150)Cgc>Tgc p.R50C PSKH2_ENST00000517981.1_Intron NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 50 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) GCTCGGAAGCGAGCCACCTGT 0.672000 27 25 0 0 1 0 0 C12orf40 283461 broad.mit.edu 37 12 40044134 40044134 + Missense_Mutation SNP A A G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:40044134A>G ENST00000324616.5 + 7 818 c.664A>G c.(664-666)Aca>Gca p.T222A C12orf40_ENST00000398716.1_Missense_Mutation_p.T145A|C12orf40_ENST00000405531.3_Missense_Mutation_p.T222A NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 222 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 ACGATTTGGGACATTATTTGA 0.328000 21 29 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98460948 98460948 + Missense_Mutation SNP A A T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:98460948A>T ENST00000339375.4 - 2 335 c.161T>A c.(160-162)gTg>gAg p.V54E TMEM130_ENST00000546258.1_Missense_Mutation_p.V35E|TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000416379.2_Missense_Mutation_p.V54E|TMEM130_ENST00000450876.1_5'UTR NM_001134450.1|NM_152913.2 NP_001127922.1|NP_690877.1 Q8N3G9 TM130_HUMAN transmembrane protein 130 54 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GTCCTTGGCCACCAGGCTGGC 0.617000 43 19 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39923819 39923819 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:39923819G>A ENST00000342274.4 - 7 3634 c.3272C>T c.(3271-3273)cCc>cTc p.P1091L BCOR_ENST00000378455.4_Missense_Mutation_p.P1073L|BCOR_ENST00000397354.3_Missense_Mutation_p.P1091L|BCOR_ENST00000378444.4_Missense_Mutation_p.P1091L|BCOR_ENST00000378463.1_5'UTR NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1091 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GGCTTCAAAGGGATCACGGTG 0.572000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 53 80 0 0 1 0 0 MAPK3 5595 broad.mit.edu 37 16 30129473 30129473 + Silent SNP G G A rs143182888 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:30129473G>A ENST00000484663.1 - 3 1346 c.213C>T c.(211-213)ttC>ttT p.F71F MAPK3_ENST00000395200.1_Intron|MAPK3_ENST00000322266.5_Silent_p.F185F|MAPK3_ENST00000395199.3_Silent_p.F185F|MAPK3_ENST00000395202.1_Silent_p.F185F|MAPK3_ENST00000403394.1_Silent_p.F185F|MAPK3_ENST00000263025.4_Silent_p.F185F P27361 MK03_HUMAN mitogen-activated protein kinase 3 185 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) GGGCCAGGCCGAAATCACAAA 0.592000 24 38 0 0 1 0 0 E2F1 1869 broad.mit.edu 37 20 32264636 32264636 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr20:32264636G>A ENST00000343380.5 - 7 1355 c.1216C>T c.(1216-1218)Cac>Tac p.H406Y NM_005225.2 NP_005216.1 Q01094 E2F1_HUMAN E2F transcription factor 1 406 Transactivation. apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 16 AGGGCCTCGTGGGGTGGGGAA 0.652000 8 2 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382915 22382915 + Missense_Mutation SNP T T C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr15:22382915T>C ENST00000328795.4 + 1 534 c.443T>C c.(442-444)cTg>cCg p.L148P RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 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) ATGTTGGCTCTGTGGCTTGGG 0.527000 88 93 0 0 1 0 0 CHST4 10164 broad.mit.edu 37 16 71571018 71571018 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:71571018C>T ENST00000338482.5 + 3 781 c.438C>T c.(436-438)atC>atT p.I146I CHST4_ENST00000539698.3_Silent_p.I146I|CHST4_ENST00000572450.1_Silent_p.I146I|RP11-510M2.9_ENST00000572693.1_RNA|ZNF19_ENST00000568446.1_Intron Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 146 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 AAGATGAAATCATCCCCCGGG 0.607000 52 47 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72188353 72188353 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:72188353C>T ENST00000537465.1 - 4 329 c.171G>A c.(169-171)aaG>aaA p.K57K PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Silent_p.K57K|PMFBP1_ENST00000543746.1_5'UTR Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 57 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GTGCTTGCTTCTTGTCCTACC 0.398000 55 75 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52535546 52535546 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr14:52535546G>A ENST00000216286.5 - 1 166 c.167C>T c.(166-168)tCa>tTa p.S56L NID2_ENST00000541773.1_Intron NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 56 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CACCACGGCTGAGCTTTCGTC 0.622000 34 58 0 0 1 0 0 MAPK6 5597 broad.mit.edu 37 15 52356806 52356806 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr15:52356806C>T ENST00000261845.5 + 6 2582 c.1775C>T c.(1774-1776)tCt>tTt p.S592F CTD-2184D3.5_ENST00000558607.1_RNA NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 592 cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) TACCAGTCTTCTTGGGACAGC 0.393000 37 56 0 0 1 0 0 KLRC3 3823 broad.mit.edu 37 12 10569334 10569334 + Nonsense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:10569334C>T ENST00000396439.2 - 5 563 c.519G>A c.(517-519)tgG>tgA p.W173* KLRC3_ENST00000381904.2_Nonsense_Mutation_p.W173*|KLRC3_ENST00000381903.2_Nonsense_Mutation_p.W173*|NKG2-E_ENST00000539033.1_Nonsense_Mutation_p.W173* NM_002261.2 NP_002252.2 killer cell lectin-like receptor subfamily C, member 3 large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 ACACACCAATCCATGAGGAAG 0.289000 34 36 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86267562 86267562 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:86267562G>A ENST00000263857.6 - 25 4071 c.3693C>T c.(3691-3693)ttC>ttT p.F1231F POLR1A_ENST00000409681.1_Silent_p.F1231F O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1231 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 CTGCAAAGTGGAAGGTGTTGA 0.632000 21 25 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152129196 152129196 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:152129196C>T ENST00000316073.3 - 3 443 c.379G>A c.(379-381)Gaa>Aaa p.E127K NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 127 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGCCTTTCTTCCTCGTGCCTC 0.542000 157 322 0 0 1 0 0 P4HA3 283208 broad.mit.edu 37 11 74009388 74009388 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr11:74009388C>T ENST00000331597.4 - 4 631 c.586G>A c.(586-588)Gat>Aat p.D196N P4HA3_ENST00000427714.2_Missense_Mutation_p.D196N NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 196 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) TGGTAATAATCCCCCATGTCA 0.468000 187 91 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49063569 49063569 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:49063569C>T ENST00000376265.2 - 44 5222 c.5161G>A c.(5161-5163)Ggc>Agc p.G1721S CACNA1F_ENST00000376251.1_Missense_Mutation_p.G1656S|CACNA1F_ENST00000323022.5_Missense_Mutation_p.G1710S NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1721 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GCCCCAGAGCCTCTCCTGGGG 0.537000 7 10 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68011630 68011630 + Missense_Mutation SNP T T G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:68011630T>G ENST00000268793.4 - 6 1307 c.934A>C c.(934-936)Atc>Ctc p.I312L NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 287 Missing (in Ref. 2; AAQ88756). meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) TGGGAGAAGATCACAGGAGCC 0.502000 9 19 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35420855 35420855 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:35420855G>A ENST00000439785.1 + 2 448 c.4G>A c.(4-6)Gcc>Acc p.A2T ZNF30_ENST00000303586.7_Missense_Mutation_p.A2T|ZNF30_ENST00000601540.1_3'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.A2T|ZNF30_ENST00000601957.1_Missense_Mutation_p.A2T|ZNF30_ENST00000426813.2_5'UTR NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) TCAAAGCATGGCCCATGTAAG 0.383000 4 14 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234394515 234394515 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:234394515G>A ENST00000251722.6 - 29 3420 c.3303C>T c.(3301-3303)tcC>tcT p.S1101S USP40_ENST00000427112.2_Silent_p.S1101S|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Silent_p.S1113S Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 1101 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TCTGCCTCAGGGAGCCGGCAG 0.572000 9 11 0 0 1 0 0 CHTF18 63922 broad.mit.edu 37 16 839607 839607 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:839607C>T ENST00000317063.6 + 5 1089 c.1089C>T c.(1087-1089)ccC>ccT p.P363P CHTF18_ENST00000455171.2_Silent_p.P194P|CHTF18_ENST00000262315.9_Silent_p.P166P|CHTF18_ENST00000491530.1_3'UTR Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 166 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) CCCGCAATCCCGTCCTGAGGC 0.657000 32 62 0 0 1 0 0 EPB41 2035 broad.mit.edu 37 1 29323784 29323784 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:29323784G>A ENST00000343067.4 + 4 866 c.739G>A c.(739-741)Gaa>Aaa p.E247K EPB41_ENST00000356093.2_Missense_Mutation_p.E247K|EPB41_ENST00000373798.1_Missense_Mutation_p.E247K|EPB41_ENST00000347529.3_Intron|EPB41_ENST00000373800.3_Missense_Mutation_p.E38K|EPB41_ENST00000373797.1_Missense_Mutation_p.E247K|EPB41_ENST00000349460.4_Missense_Mutation_p.E38K|EPB41_ENST00000398863.2_Missense_Mutation_p.E247K NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 247 FERM. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) CAATCTTTTGGAAGAAGACTA 0.363000 43 59 0 0 1 0 0 RALB 5899 broad.mit.edu 37 2 121043649 121043649 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:121043649C>T ENST00000272519.5 + 3 584 c.314C>T c.(313-315)gCc>gTc p.A105V RALB_ENST00000404963.3_Missense_Mutation_p.A126V|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Missense_Mutation_p.A105V|RALB_ENST00000474855.2_Missense_Mutation_p.A127V NM_002881.2 NP_002872.1 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 105 apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(154;0.122) ACAGCAACTGCCGAATTCAGG 0.443000 38 39 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347468 71347468 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr4:71347468C>T ENST00000413702.1 + 4 1295 c.1007C>T c.(1006-1008)tCg>tTg p.S336L MUC7_ENST00000456088.1_Missense_Mutation_p.S336L|MUC7_ENST00000304887.5_Missense_Mutation_p.S336L NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 336 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACTACTACTTCGGTCACTACT 0.413000 92 114 0 0 1 0 0 ARRDC5 645432 broad.mit.edu 37 19 4891505 4891505 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:4891505C>T ENST00000381781.2 - 3 581 c.582G>A c.(580-582)atG>atA p.M194I NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 194 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) TGTTCCTTTCCATCTGGATTT 0.527000 19 21 0 0 1 0 0 GEMIN7 79760 broad.mit.edu 37 19 45593517 45593517 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:45593517G>A ENST00000270257.4 + 3 392 c.145G>A c.(145-147)Gaa>Aaa p.E49K GEMIN7_ENST00000391951.2_Missense_Mutation_p.E49K|GEMIN7_ENST00000591747.1_Missense_Mutation_p.E49K|GEMIN7_ENST00000591607.1_Missense_Mutation_p.E49K|CTB-179K24.4_ENST00000586744.1_RNA|CTB-179K24.3_ENST00000586556.1_RNA NM_001007269.1|NM_001007270.1|NM_024707.2 NP_001007270.1|NP_001007271.1|NP_078983.1 Q9H840 GEMI7_HUMAN gem (nuclear organelle) associated protein 7 49 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) CATAGCTCAAGAATCCCTGGA 0.632000 41 54 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158300844 158300844 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:158300844C>T ENST00000368168.3 - 2 177 c.70G>A c.(70-72)Ggg>Agg p.G24R NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 24 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) GAGGTCGGCCCCTGGAAGGCT 0.448000 120 272 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125521355 125521355 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:125521355C>T ENST00000431078.1 + 15 2702 c.2338C>T c.(2338-2340)Ccc>Tcc p.P780S NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 780 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GAGAATTGGTCCCTTGCGTTG 0.443000 14 13 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12817567 12817567 + Missense_Mutation SNP G G C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:12817567G>C ENST00000425528.1 - 14 1670 c.1313C>G c.(1312-1314)cCg>cGg p.P438R TNPO2_ENST00000592287.1_Missense_Mutation_p.P438R|TNPO2_ENST00000588216.1_Missense_Mutation_p.P438R|TNPO2_ENST00000450764.2_Missense_Mutation_p.P438R|TNPO2_ENST00000356861.5_Missense_Mutation_p.P438R|TNPO2_ENST00000441499.1_Missense_Mutation_p.P438R O14787 TNPO2_HUMAN transportin 2 438 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GATCAGGTGCGGGATCAGCTC 0.632000 11 18 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185138840 185138840 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr4:185138840C>T ENST00000296741.2 - 1 274 c.133G>A c.(133-135)Gag>Aag p.E45K NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 45 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GGCAATGACTCCAGCGCCTCA 0.532000 34 50 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168098258 168098258 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr5:168098258C>T ENST00000519560.1 - 34 4491 c.4072G>A c.(4072-4074)Ggc>Agc p.G1358S SLIT3_ENST00000404867.3_Missense_Mutation_p.G1358S|SLIT3_ENST00000332966.8_Missense_Mutation_p.G1365S NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1358 EGF-like 7. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCGGTCCAGCCTGGGCGGCAC 0.687000 28 10 0 0 1 0 0 PDE6D 5147 broad.mit.edu 37 2 232602838 232602838 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:232602838G>A ENST00000287600.4 - 3 344 c.150C>T c.(148-150)ccC>ccT p.P50P PDE6D_ENST00000409772.1_Silent_p.P50P NM_002601.2 NP_002592.1 O43924 PDE6D_HUMAN phosphodiesterase 6D, cGMP-specific, rod, delta 50 regulation of GTP catabolic process|response to stimulus|visual perception 3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding endometrium(1)|large_intestine(1)|lung(2)|skin(1) 5 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142) Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154) GGATTTTCTTGGGAACACGGG 0.393000 56 92 0 0 1 0 0 ZNF787 126208 broad.mit.edu 37 19 56599602 56599602 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:56599602C>T ENST00000270459.3 - 3 1057 c.939G>A c.(937-939)gaG>gaA p.E313E NM_001002836.2 NP_001002836.2 Q6DD87 ZN787_HUMAN zinc finger protein 787 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1) 5 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0559) GGGCCGGCTCCTCGCCCCCCG 0.756000 6 11 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3200831 3200831 + Nonsense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr8:3200831G>A ENST00000520002.1 - 24 4174 c.3619C>T c.(3619-3621)Caa>Taa p.Q1207* CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q1207*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q1206*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q1206*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Q1206*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Q1207*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q1207* Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1207 CUB 7. integral to membrane p.Q935*(1)|p.Q1206*(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TAGGTGAGTTGAAAACCTTGG 0.373000 27 53 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36304172 36304172 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:36304172C>T ENST00000301175.3 - 1 29 c.12G>A c.(10-12)agG>agA p.R4R NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 4 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ttgagactaccctgggcgaca 0.458000 10 18 0 0 1 0 0 ADRA2A 150 broad.mit.edu 37 10 112838012 112838012 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr10:112838012C>T ENST00000280155.2 + 1 1223 c.258C>T c.(256-258)ttC>ttT p.F86F NM_000681.3 NP_000672.3 P08913 ADA2A_HUMAN adrenoceptor alpha 2A 71 actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) AAAACCTCTTCCTGGTGTCTC 0.637000 16 28 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129899738 129899738 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr10:129899738C>T ENST00000368654.3 - 14 9864 c.9489G>A c.(9487-9489)gaG>gaA p.E3163E MKI67_ENST00000368653.3_Silent_p.E2803E NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 3163 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) GCTGGGAGCTCTCATTCTGTC 0.498000 76 94 0 0 1 0 0 NANOS3 342977 broad.mit.edu 37 19 13988377 13988377 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:13988377C>T ENST00000397555.2 + 2 258 c.258C>T c.(256-258)ccC>ccT p.P86P NANOS3_ENST00000339133.5_Silent_p.P105P|NANOS3_ENST00000591161.1_Intron|NANOS3_ENST00000591727.1_Intron NM_001098622.2 NP_001092092.1 P60323 NANO3_HUMAN nanos homolog 3 (Drosophila) 86 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(19;2e-21) TGCTGTGTCCCATCCTGCGGG 0.652000 19 44 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21232695 21232695 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:21232695C>T ENST00000233242.1 - 26 7172 c.7045G>A c.(7045-7047)Gaa>Aaa p.E2349K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2349 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGGTCTACTTCATACCTCTCG 0.378000 52 47 0 0 1 0 0 GML 2765 broad.mit.edu 37 8 143927825 143927825 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr8:143927825G>A ENST00000220940.1 + 4 286 c.196G>A c.(196-198)Gaa>Aaa p.E66K NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 66 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) AAATTCTCGTGAACTACTTGT 0.348000 24 44 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12123600 12123600 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:12123600C>T ENST00000379388.2 + 4 3904 c.3572C>T c.(3571-3573)tCt>tTt p.S1191F NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1191 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CGGGACGGGTCTCATCCTCAC 0.512000 27 40 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179430001 179430001 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:179430001G>A ENST00000589042.1 - 326 81082 c.80858C>T c.(80857-80859)aCg>aTg p.T26953M TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T25312M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T24385M|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T18080M|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T17888M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T18013M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25312 Fibronectin type-III 96. 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) ATTTGTTGCCGTTACGGTGTA 0.403000 4 146 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891656 18891656 + Missense_Mutation SNP A A T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:18891656A>T ENST00000317658.3 + 1 612 c.454A>T c.(454-456)Ata>Tta p.I152L NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 152 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GGAGTACTTGATAGCTTGCAT 0.383000 16 91 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004145 75004145 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:75004145C>T ENST00000373359.2 - 1 934 c.742G>A c.(742-744)Gag>Aag p.E248K NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 248 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AACTCAAACTCAAGGGGATTA 0.498000 39 70 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79579662 79579662 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr10:79579662G>A ENST00000372391.2 - 16 3522 c.3517C>T c.(3517-3519)Ccg>Tcg p.P1173S DLG5_ENST00000372388.2_Missense_Mutation_p.P833S|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1173 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CCCACAGACGGCCTGCTAGGG 0.652000 62 146 0 0 1 0 0 DMWD 1762 broad.mit.edu 37 19 46288929 46288929 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:46288929G>A ENST00000270223.6 - 3 1870 c.1825C>T c.(1825-1827)Ctc>Ttc p.L609F DMWD_ENST00000377735.3_Missense_Mutation_p.L609F|AC011530.4_ENST00000593999.1_Silent_p.S101S NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 609 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) AGGAACAGGAGGACTGTGAGC 0.682000 22 29 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52861777 52861777 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr4:52861777G>A ENST00000343457.3 - 4 1417 c.1411C>T c.(1411-1413)Cct>Tct p.P471S NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 471 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GTTCTATCAGGAATTACGGTG 0.567000 60 71 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862902 10862902 + RNA SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr21:10862902G>A ENST00000559480.1 + 0 198 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GGCTTGAGTGGATGGGATTGG 0.552000 89 233 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 12757 12757 + Missense_Mutation SNP T T C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrM:12757T>C ENST00000361567.2 + 1 421 c.421T>C c.(421-423)Ttc>Ctc p.F141L P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 141 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) TATTCCAACTGTTCATCGGCT 0.403000 30 301 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124845094 124845094 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr11:124845094C>T ENST00000529051.1 + 5 878 c.619C>T c.(619-621)Ctt>Ttt p.L207F CCDC15_ENST00000344762.5_Missense_Mutation_p.L207F Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 207 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) GAAAAGCTTTCTTACCAGAGA 0.318000 12 4 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117282567 117282567 + Nonsense_Mutation SNP G G T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:117282567G>T ENST00000003084.6 + 23 3925 c.3793G>T c.(3793-3795)Gga>Tga p.G1265* AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Nonsense_Mutation_p.G1204* NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1265 ABC transporter 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GAACACTGAAGGAGAAATCCA 0.443000 Cystic Fibrosis 25 100 3.28513e-13 3.36705e-13 1 1 0 SMTNL1 219537 broad.mit.edu 37 11 57313487 57313487 + Missense_Mutation SNP G G T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr11:57313487G>T ENST00000457912.1 + 5 1105 c.1105G>T c.(1105-1107)Gcc>Tcc p.A369S SMTNL1_ENST00000527972.1_Missense_Mutation_p.A351S|SMTNL1_ENST00000399154.2_Missense_Mutation_p.A314S E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 351 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GAACCGCAAAGCCATCGTGGA 0.667000 13 14 7.93312e-07 8.07058e-07 1 1 0 DPCR1 135656 broad.mit.edu 37 6 30920765 30920765 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:30920765G>A ENST00000462446.1 + 3 4081 c.4053G>A c.(4051-4053)cgG>cgA p.R1351R DPCR1_ENST00000304311.2_Silent_p.R193R|HCG21_ENST00000419481.1_RNA Q3MIW9 DPCR1_HUMAN diffuse panbronchiolitis critical region 1 475 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1) 10 ATATGATGCGGACACGCCGCA 0.498000 20 27 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215877 140215877 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr5:140215877C>T ENST00000525929.1 + 1 1909 c.1909C>T c.(1909-1911)Cta>Tta p.L637L PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.L637L|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACACGAGCCCTAGATGAGAC 0.652000 64 22 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27761265 27761265 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:27761265G>A ENST00000261588.4 + 16 3003 c.2984G>A c.(2983-2985)gGa>gAa p.G995E NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 995 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GGCCTCAACGGAATAGAAATA 0.483000 14 32 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24964293 24964293 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:24964293G>A ENST00000289968.6 - 11 992 c.923C>T c.(922-924)tCt>tTt p.S308F ARHGAP17_ENST00000303665.5_Missense_Mutation_p.S308F|ARHGAP17_ENST00000441763.2_3'UTR NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 308 Rho-GAP. 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) ATCCAGGTGAGAAGTAGAACA 0.498000 64 76 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90002152 90002152 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr5:90002152G>A ENST00000405460.2 + 38 8767 c.8671G>A c.(8671-8673)Ggc>Agc p.G2891S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2891 Calx-beta 20. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCCTATCATTGGCTTTCTGAT 0.393000 15 22 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809176 18809176 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:18809176G>A ENST00000400664.1 + 1 1753 c.1701G>A c.(1699-1701)ggG>ggA p.G567G NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 567 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CGCTCACGGGGATCTGGAGCG 0.662000 20 25 0 0 1 0 0 IQCF3 401067 broad.mit.edu 37 3 51864784 51864784 + Missense_Mutation SNP G G C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:51864784G>C ENST00000456080.1 + 8 1597 c.432G>C c.(430-432)caG>caC p.Q144H IQCF3_ENST00000444293.1_3'UTR|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Missense_Mutation_p.Q144H|IQCF3_ENST00000440739.2_Missense_Mutation_p.Q144H|IQCF3_ENST00000437810.2_Missense_Mutation_p.Q144H P0C7M6 IQCF3_HUMAN IQ motif containing F3 144 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CTTCAAAGCAGCCAGAGTTCC 0.483000 27 55 0 0 1 0 0 RP11-467H10.2 0 broad.mit.edu 37 7 76681191 76681191 + RNA SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:76681191G>A ENST00000459742.1 + 0 58 CCCTGGGTCCGGTGTTCTGGA 0.468000 25 9 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27721647 27721647 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:27721647C>T ENST00000264717.2 + 5 474 c.411C>T c.(409-411)ctC>ctT p.L137L GCKR_ENST00000424318.2_5'UTR NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 137 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) ACACCTACCTCATTGCAGGTG 0.403000 39 35 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43777999 43777999 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:43777999G>A ENST00000372476.3 + 12 1733 c.1654G>A c.(1654-1656)Gag>Aag p.E552K TIE1_ENST00000433781.2_Missense_Mutation_p.E197K NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 552 Fibronectin type-III 2. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCCGTGGTTGGAGGGCTGGCA 0.627000 50 52 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52838931 52838931 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:52838931G>A ENST00000371568.3 - 17 2726 c.2508C>T c.(2506-2508)ccC>ccT p.P836P ORC1_ENST00000371566.1_Silent_p.P836P NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 836 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CGTTCCTGCTGGGCTCCACAA 0.572000 62 92 0 0 1 0 0 GC 2638 broad.mit.edu 37 4 72618250 72618250 + Silent SNP A A T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr4:72618250A>T ENST00000273951.8 - 11 1723 c.1380T>A c.(1378-1380)ctT>ctA p.L460L GC_ENST00000513476.1_Silent_p.L460L|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.L479L NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 460 Albumin 3. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) AATCACAGTAAAGAGGAGGTG 0.428000 34 56 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23233360 23233360 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:23233360C>T ENST00000400191.3 + 11 2064 c.2046C>T c.(2044-2046)gtC>gtT p.V682V EPHB2_ENST00000374630.3_Silent_p.V682V|EPHB2_ENST00000374632.3_Silent_p.V683V|EPHB2_ENST00000374627.1_Silent_p.V677V NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 682 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) ATCCCAACGTCATCCACCTGG 0.582000 39 45 0 0 1 0 0 IZUMO1 284359 broad.mit.edu 37 19 49247794 49247794 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:49247794C>T ENST00000332955.2 - 4 860 c.313G>A c.(313-315)Gat>Aat p.D105N NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 105 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) ACGAAGAGATCGCCTGGGAAG 0.498000 35 38 0 0 1 0 0 EPHX2 2053 broad.mit.edu 37 8 27401990 27401990 + Missense_Mutation SNP A A T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr8:27401990A>T ENST00000521400.1 + 19 2049 c.1619A>T c.(1618-1620)aAg>aTg p.K540M EPHX2_ENST00000380476.3_Missense_Mutation_p.K487M|EPHX2_ENST00000521780.1_Missense_Mutation_p.K474M|EPHX2_ENST00000517536.1_Missense_Mutation_p.K357M|EPHX2_ENST00000518379.1_Missense_Mutation_p.K508M NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 540 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) ATCCTCATTAAGTGGCTGGAT 0.537000 72 99 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 6 130 0 0 1 0 0 R3HDM4 91300 broad.mit.edu 37 19 900089 900089 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:900089G>A ENST00000361574.5 - 5 606 c.533C>T c.(532-534)gCc>gTc p.A178V R3HDM4_ENST00000587975.1_Missense_Mutation_p.A157V NM_138774.3 NP_620129.2 Q96D70 CS022_HUMAN R3H domain containing 4 178 Arg-rich. nucleus nucleic acid binding CTTGAGGACGGCTCGCAGACG 0.642000 30 56 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213734 9213734 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:9213734G>A ENST00000305456.2 - 1 248 c.249C>T c.(247-249)ttC>ttT p.F83F NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 GATTGGAGAGGAAGAAGTACA 0.502000 53 65 0 0 1 0 0 CCDC64B 146439 broad.mit.edu 37 16 3085470 3085470 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:3085470G>A ENST00000572449.1 - 2 90 c.28C>T c.(28-30)Ccg>Tcg p.P10S RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Missense_Mutation_p.P10S A1A5D9 BICR2_HUMAN coiled-coil domain containing 64B 10 breast(1)|endometrium(2)|large_intestine(1) 4 GGCCCGGACGGGAAGCTGGGC 0.687000 23 32 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47095874 47095874 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr18:47095874G>A ENST00000261292.4 + 4 805 c.527G>A c.(526-528)gGg>gAg p.G176E LIPG_ENST00000580036.1_Missense_Mutation_p.G176E|LIPG_ENST00000427224.2_Missense_Mutation_p.G176E|LIPG_ENST00000577628.1_Missense_Mutation_p.G212E NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 176 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 CACGTGGCCGGGTATGCAGGC 0.542000 25 23 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2596821 2596821 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr20:2596821G>A ENST00000358864.1 + 15 1926 c.1911G>A c.(1909-1911)ctG>ctA p.L637L TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 637 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GAAATGTGCTGGGTTTGATCT 0.433000 38 50 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224407 77224407 + Missense_Mutation SNP T T C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:77224407T>C ENST00000458128.1 - 1 728 c.729A>G c.(727-729)atA>atG p.I243M ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 243 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 CCACAGCTTCTATGGCTTTGC 0.567000 4 147 0 0 1 0 0 PRMT7 54496 broad.mit.edu 37 16 68373720 68373720 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:68373720C>T ENST00000339507.5 + 9 1606 c.776C>T c.(775-777)tCa>tTa p.S259L PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Missense_Mutation_p.S209L|PRMT7_ENST00000441236.1_Missense_Mutation_p.S209L|PRMT7_ENST00000348497.4_Missense_Mutation_p.S185L Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 259 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) GTCAGTAGCTCAGCAGCCTGC 0.473000 64 95 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 76 0 0 1 0 0 IL17RD 54756 broad.mit.edu 37 3 57154294 57154294 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:57154294G>A ENST00000296318.7 - 2 262 c.174C>T c.(172-174)ttC>ttT p.F58F IL17RD_ENST00000320057.5_5'UTR|IL17RD_ENST00000463523.1_5'UTR|IL17RD_ENST00000427856.2_Silent_p.F34F|IL17RD_ENST00000479825.1_5'UTR NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D 58 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) TGTCATATTTGAAGGTGATGT 0.453000 13 23 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146818211 146818211 + Missense_Mutation SNP T T C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:146818211T>C ENST00000361727.3 + 6 1411 c.895T>C c.(895-897)Ttc>Ctc p.F299L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 299 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CATGCAGCACTTCCGTACCAA 0.488000 HNSCC(39;0.1) 40 66 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51919939 51919939 + Silent SNP G G C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:51919939G>C ENST00000353836.5 - 3 908 c.687C>G c.(685-687)acC>acG p.T229T SIGLEC10_ENST00000432469.2_Silent_p.T146T|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.T229T|SIGLEC10_ENST00000339313.5_Silent_p.T229T|SIGLEC10_ENST00000442846.3_Silent_p.T171T|SIGLEC10_ENST00000441969.3_Silent_p.T171T|SIGLEC10_ENST00000525998.1_Silent_p.T229T|SIGLEC10_ENST00000439889.2_Silent_p.T171T|SIGLEC10_ENST00000436984.2_Silent_p.T181T NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 229 Ig-like C2-type 1. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGAGTCGGACGGTCCTCTGTG 0.647000 25 33 0 0 1 0 0 EXOSC10 5394 broad.mit.edu 37 1 11151617 11151617 + Missense_Mutation SNP T T A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:11151617T>A ENST00000544779.1 - 4 415 c.410A>T c.(409-411)aAt>aTt p.N137I EXOSC10_ENST00000376936.4_Missense_Mutation_p.N137I|EXOSC10_ENST00000304457.7_Missense_Mutation_p.N137I Q01780 EXOSX_HUMAN exosome component 10 137 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) AGGCTGTTGATTCTTGTTTAC 0.463000 25 48 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151771977 151771977 + Silent SNP C C T rs146688418 by1000genomes TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr5:151771977C>T ENST00000255262.3 - 4 1188 c.1023G>A c.(1021-1023)gtG>gtA p.V341V NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 341 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) AAGAAGAGATCACATTCTGGA 0.522000 59 14 0 0 1 0 0 E2F1 1869 broad.mit.edu 37 20 32264637 32264637 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr20:32264637G>A ENST00000343380.5 - 7 1354 c.1215C>T c.(1213-1215)ccC>ccT p.P405P NM_005225.2 NP_005216.1 Q01094 E2F1_HUMAN E2F transcription factor 1 405 Transactivation. apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 16 GGGCCTCGTGGGGTGGGGAAA 0.652000 8 2 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815454 106815454 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr8:106815454G>A ENST00000407775.2 + 8 3394 c.3144G>A c.(3142-3144)ctG>ctA p.L1048L RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.L779L|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.L916L|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.L916L NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 1048 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ATGGTGGACTGAAACAAGATG 0.488000 19 26 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104174954 104174954 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr10:104174954G>A ENST00000020673.5 - 4 1316 c.790C>T c.(790-792)Cca>Tca p.P264S PSD_ENST00000406432.1_Missense_Mutation_p.P264S NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 264 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) ACCCCAGGTGGAGATGGGGGG 0.627000 22 48 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41101041 41101041 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr20:41101041C>T ENST00000373198.3 - 8 1550 c.1315G>A c.(1315-1317)Gag>Aag p.E439K PTPRT_ENST00000373193.3_Missense_Mutation_p.E439K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E439K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E439K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E439K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E439K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E439K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 439 Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGATGACCTCCTCGGCCTCG 0.622000 49 60 0 0 1 0 0 ZNF81 347344 broad.mit.edu 37 X 47774789 47774789 + Silent SNP T T C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:47774789T>C ENST00000376954.1 + 6 1112 c.744T>C c.(742-744)cgT>cgC p.R248R ZNF81_ENST00000338637.7_Silent_p.R248R P51508 ZNF81_HUMAN zinc finger protein 81 248 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) TCTGTGAACGTAATCAATGTG 0.393000 56 60 0 0 1 0 0 NBN 4683 broad.mit.edu 37 8 90982699 90982699 + Silent SNP A A G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr8:90982699A>G ENST00000265433.3 - 7 943 c.789T>C c.(787-789)ttT>ttC p.F263F NBN_ENST00000409330.1_Silent_p.F181F NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 263 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) CCGGAGCCAAAAAGAAATTAT 0.393000 Homologous recombination 44 50 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90002153 90002153 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr5:90002153G>A ENST00000405460.2 + 38 8768 c.8672G>A c.(8671-8673)gGc>gAc p.G2891D NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2891 Calx-beta 20. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCTATCATTGGCTTTCTGATT 0.393000 15 22 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181754944 181754944 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:181754944C>T ENST00000526775.1 + 42 5883 c.5718C>T c.(5716-5718)ccC>ccT p.P1906P CACNA1E_ENST00000358338.5_Silent_p.P1857P|CACNA1E_ENST00000357570.5_Silent_p.P1876P|CACNA1E_ENST00000367570.1_Silent_p.P1925P|CACNA1E_ENST00000360108.3_Silent_p.P1906P|CACNA1E_ENST00000367573.2_Silent_p.P1925P|CACNA1E_ENST00000367567.4_Silent_p.P1532P NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1925 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AGCAGGACCCCGTTTCAGGCC 0.542000 109 280 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60889897 60889897 + Silent SNP G G A rs117652580 byFrequency TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr20:60889897G>A ENST00000252999.3 - 60 8220 c.8154C>T c.(8152-8154)cgC>cgT p.R2718R NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2718 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTCTCGCACGCGGCCAATGC 0.672000 60 219 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 31799634 31799634 + Silent SNP C C T rs146790239 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr5:31799634C>T ENST00000438447.1 + 2 667 c.279C>T c.(277-279)ttC>ttT p.F93F PDZD2_ENST00000282493.3_Silent_p.F93F O15018 PDZD2_HUMAN PDZ domain containing 2 93 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus 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 TCCCTGTTTTCGGGGACTATG 0.567000 75 87 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74053552 74053552 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:74053552G>A ENST00000307877.2 - 8 1071 c.910C>T c.(910-912)Cca>Tca p.P304S SRP68_ENST00000539137.1_Missense_Mutation_p.P266S|SRP68_ENST00000355113.5_Missense_Mutation_p.P203S NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 304 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 ATCTTCACTGGAACCGTTCTC 0.443000 43 64 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856553 62856553 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:62856553G>A ENST00000584306.1 - 11 4241 c.3711C>T c.(3709-3711)ttC>ttT p.F1237F LRRC37A3_ENST00000400877.3_Silent_p.F275F|LRRC37A3_ENST00000334962.5_Silent_p.F214F|LRRC37A3_ENST00000339474.5_Silent_p.F355F|LRRC37A3_ENST00000319651.5_Silent_p.F1237F NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1237 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GCTCTTGGGTGAACGAAGGCT 0.577000 49 70 0 0 1 0 0 KIAA1841 84542 broad.mit.edu 37 2 61304111 61304111 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:61304111C>T ENST00000402291.1 + 6 729 c.488C>T c.(487-489)aCt>aTt p.T163I KIAA1841_ENST00000453873.1_Missense_Mutation_p.T163I|KIAA1841_ENST00000356719.2_Missense_Mutation_p.T163I|KIAA1841_ENST00000295031.5_Missense_Mutation_p.T163I|KIAA1841_ENST00000482513.1_3'UTR NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 163 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) GAAGATTTTACTTGCCCGCGA 0.363000 49 56 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43821986 43821986 + Missense_Mutation SNP A A G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr15:43821986A>G ENST00000382031.1 + 6 8919 c.8888A>G c.(8887-8889)aAt>aGt p.N2963S MAP1A_ENST00000399453.1_Missense_Mutation_p.N2725S|MAP1A_ENST00000300231.5_Missense_Mutation_p.N2725S P78559 MAP1A_HUMAN microtubule-associated protein 1A 2725 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GTCAGTGGGAATGACCCTGCC 0.572000 23 34 0 0 1 0 0 CLDN6 9074 broad.mit.edu 37 16 3065465 3065465 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:3065465G>A ENST00000396925.1 - 3 986 c.558C>T c.(556-558)ccC>ccT p.P186P CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.P186P P56747 CLD6_HUMAN claudin 6 186 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 ACCCCCCCGAGGGGCAAGTGC 0.652000 25 41 0 0 1 0 0 PHF21A 51317 broad.mit.edu 37 11 45987052 45987052 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr11:45987052G>A ENST00000257821.4 - 9 1433 c.810C>T c.(808-810)ttC>ttT p.F270F PHF21A_ENST00000323180.6_Silent_p.F270F|PHF21A_ENST00000418153.2_Silent_p.F269F NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 269 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 TTGTGGGGGTGAACTTGGTCA 0.582000 OREG0020936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 8 0 0 1 0 0 HSPB8 26353 broad.mit.edu 37 12 119617291 119617291 + Silent SNP C C T rs56046128 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:119617291C>T ENST00000281938.2 + 1 845 c.174C>T c.(172-174)tcC>tcT p.S58S NM_014365.2 NP_055180.1 Q9UJY1 HSPB8_HUMAN heat shock 22kDa protein 8 58 cell death|response to heat cytoplasm|nucleus identical protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 14 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTCTCTCCTCCGCCTGGCCAG 0.692000 90 99 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49737904 49737904 + Splice_Site SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:49737904G>A ENST00000327697.6 + 14 1254 c.e14-1 RNF123_ENST00000432042.1_Splice_Site NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) TCTTCCCCCAGGACTACGAGG 0.572000 51 73 0 0 1 0 0 EFNB3 1949 broad.mit.edu 37 17 7612675 7612675 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:7612675C>T ENST00000226091.2 + 5 1201 c.804C>T c.(802-804)tcC>tcT p.S268S NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 268 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) GTCCTGGCTCCTTCGGGAGGG 0.716000 14 21 0 0 1 0 0 RHBDD1 84236 broad.mit.edu 37 2 227729454 227729454 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:227729454C>T ENST00000392062.2 + 4 569 c.45C>T c.(43-45)ctC>ctT p.L15L RHBDD1_ENST00000341329.3_Silent_p.L15L NM_001167608.1 NP_001161080.1 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 15 integral to membrane serine-type endopeptidase activity breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) TTATTCTACTCCTTTCTCAAA 0.458000 77 114 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44679947 44679947 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:44679947C>T ENST00000590089.1 + 7 899 c.532C>T c.(532-534)Ctg>Ttg p.L178L ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Silent_p.L178L|ZNF226_ENST00000454662.2_Silent_p.L178L Q9NYT6 ZN226_HUMAN zinc finger protein 226 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) GAAAACATTCCTGACTGAGTC 0.373000 20 22 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99150236 99150236 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr10:99150236C>T ENST00000370992.4 - 6 808 c.697G>A c.(697-699)Gtg>Atg p.V233M RRP12_ENST00000536831.1_Missense_Mutation_p.V39M|RRP12_ENST00000315563.6_Intron|RRP12_ENST00000414986.1_Missense_Mutation_p.V172M NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 233 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TGAAGGGTCACGGGGTAGCCC 0.607000 47 40 0 0 1 0 0 PLCD4 84812 broad.mit.edu 37 2 219486275 219486275 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:219486275C>T ENST00000450993.2 + 5 832 c.493C>T c.(493-495)Cta>Tta p.L165L PLCD4_ENST00000417849.1_Silent_p.L165L|PLCD4_ENST00000432688.1_Silent_p.L165L NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 165 EF-hand 1. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GTTATTGCACCTAATGAATGT 0.458000 139 171 0 0 1 0 0 ZNF787 126208 broad.mit.edu 37 19 56599601 56599601 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:56599601C>T ENST00000270459.3 - 3 1058 c.940G>A c.(940-942)Gag>Aag p.E314K NM_001002836.2 NP_001002836.2 Q6DD87 ZN787_HUMAN zinc finger protein 787 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1) 5 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0559) TGGGCCGGCTCCTCGCCCCCC 0.761000 6 12 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57938642 57938642 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:57938642C>T ENST00000564448.1 - 26 2672 c.2612G>A c.(2611-2613)gGa>gAa p.G871E CNGB1_ENST00000251102.8_Missense_Mutation_p.G877E Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 877 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 CGATACCTGTCCGATCATCAC 0.567000 72 104 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 93 70 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48154808 48154808 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:48154808G>A ENST00000320031.8 + 16 2466 c.2136G>A c.(2134-2136)caG>caA p.Q712Q ITGA3_ENST00000007722.7_Silent_p.Q712Q NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 712 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 AACGGAACCAGAGGGTGAGCA 0.607000 51 71 0 0 1 0 0 G2E3 55632 broad.mit.edu 37 14 31071212 31071212 + Missense_Mutation SNP C C A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr14:31071212C>A ENST00000206595.6 + 10 1039 c.885C>A c.(883-885)ttC>ttA p.F295L G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.F325L|G2E3_ENST00000438909.2_Missense_Mutation_p.F249L NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 295 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 TAGGAGAGTTCCAAAAAGCCA 0.299000 36 32 1.42033e-22 1.47042e-22 1 1 0 GKN1 56287 broad.mit.edu 37 2 69204835 69204835 + Nonsense_Mutation SNP G G T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:69204835G>T ENST00000377938.2 + 3 238 c.175G>T c.(175-177)Gaa>Taa p.E59* NM_019617.3 NP_062563.3 Q9NS71 GKN1_HUMAN gastrokine 1 59 digestion|positive regulation of cell division extracellular region breast(2)|large_intestine(4)|lung(5) 11 TGTCAACAATGAACACAATGT 0.393000 47 54 7.90463e-13 8.0816e-13 1 1 0 MT-ND5 4540 broad.mit.edu 37 MT 12705 12705 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrM:12705C>T ENST00000361567.2 + 1 369 c.369C>T c.(367-369)atC>atT p.I123I P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 123 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) TATCTACTCATTTTCCTAATT 0.373000 7 335 0 0 1 0 0 C1QL2 165257 broad.mit.edu 37 2 119914397 119914397 + Missense_Mutation SNP A A T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:119914397A>T ENST00000272520.3 - 2 1464 c.845T>A c.(844-846)tTt>tAt p.F282Y NM_182528.3 NP_872334.2 Q7Z5L3 C1QL2_HUMAN complement component 1, q subcomponent-like 2 282 C1q. collagen NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1) 7 GTACAGAAGAAAGCCCGAGAA 0.637000 HNSCC(49;0.14) 61 67 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118199219 118199219 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:118199219G>A ENST00000425217.1 - 4 550 c.496C>T c.(496-498)Ctc>Ttc p.L166F KSR2_ENST00000339824.5_Missense_Mutation_p.L195F NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 195 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCTGGGAGAGATGGGTGCGG 0.642000 32 42 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124457907 124457907 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr10:124457907G>A ENST00000329446.4 - 3 381 c.350C>T c.(349-351)cCg>cTg p.P117L NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 117 p.P117Q(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) TTTGTAGTCCGGAGACAGCAA 0.448000 191 161 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71740914 71740914 + Nonsense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:71740914C>T ENST00000258104.3 + 6 803 c.526C>T c.(526-528)Caa>Taa p.Q176* DYSF_ENST00000409651.1_Nonsense_Mutation_p.Q208*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.Q208*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.Q207*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.Q207*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.Q177*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.Q177*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.Q177*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.Q176*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.Q207*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.Q208* NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 176 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 ATTCCTGGATCAAAGCGGAGG 0.597000 28 33 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128724183 128724183 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:128724183C>T ENST00000371113.4 + 24 2807 c.2642C>T c.(2641-2643)cCa>cTa p.P881L OCRL_ENST00000357121.5_Missense_Mutation_p.P873L NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 881 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 AGACAGACTCCAAGTGACCGC 0.488000 149 211 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126240964 126240964 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr4:126240964G>A ENST00000394329.3 + 1 3411 c.3398G>A c.(3397-3399)gGa>gAa p.G1133E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1133 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGGCCAAATGGAGAAGTAAGG 0.413000 78 94 0 0 1 0 0 ZNF10 7556 broad.mit.edu 37 12 133732292 133732292 + Missense_Mutation SNP C C A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:133732292C>A ENST00000248211.6 + 5 682 c.460C>A c.(460-462)Caa>Aaa p.Q154K CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.Q154K|ZNF10_ENST00000402932.2_Intron|ZNF268_ENST00000416488.1_Intron NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 154 Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.Q154K(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GGCATTCACCCAAAAGAAAGT 0.413000 14 94 2.31682e-05 2.35115e-05 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40433553 40433553 + Missense_Mutation SNP A A G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:40433553A>G ENST00000221347.6 - 2 723 c.716T>C c.(715-717)gTt>gCt p.V239A NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 239 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CAGCTGCTCAACCACATGGTT 0.587000 35 55 0 0 1 0 0 ASIC4 55515 broad.mit.edu 37 2 220399924 220399924 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:220399924C>T ENST00000358078.4 + 6 1502 c.1488C>T c.(1486-1488)tgC>tgT p.C496C ASIC4_ENST00000347842.3_Silent_p.C477C Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 477 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity AGGGCCCGTGCTTCTGCCCCA 0.627000 36 53 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61512921 61512921 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr20:61512921G>A ENST00000266070.4 - 16 4712 c.4387C>T c.(4387-4389)Ccg>Tcg p.P1463S DIDO1_ENST00000395343.1_Missense_Mutation_p.P1463S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1463 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CCGGCCACCGGCTCGGCAGGC 0.577000 181 81 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148932838 148932838 + RNA SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:148932838G>A ENST00000539543.1 + 0 94 NR_027355.1 GAGCTGCCCAGCATGGCTGCA 0.607000 40 352 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21229268 21229268 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:21229268G>A ENST00000233242.1 - 26 10599 c.10472C>T c.(10471-10473)tCc>tTc p.S3491F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3491 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGACTCAATGGAAAAGTAAGA 0.413000 62 75 0 0 1 0 0 RNF34 80196 broad.mit.edu 37 12 121858571 121858571 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:121858571C>T ENST00000361234.5 + 5 1090 c.918C>T c.(916-918)aaC>aaT p.N306N RNF34_ENST00000392464.2_Silent_p.N306N|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Silent_p.N307N NM_025126.3 NP_079402.2 Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase 306 apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) ATGAAGAAAACCAAAAGTCCT 0.333000 42 63 0 0 1 0 0 SERPINI1 5274 broad.mit.edu 37 3 167507022 167507022 + Missense_Mutation SNP C C T rs61735306 byFrequency TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:167507022C>T ENST00000295777.5 + 2 537 c.106C>T c.(106-108)Cgt>Tgt p.R36C SERPINI1_ENST00000446050.2_Missense_Mutation_p.R36C NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 36 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 TATGTATAATCGTCTTAGAGC 0.453000 53 59 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809175 18809175 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:18809175G>A ENST00000400664.1 + 1 1752 c.1700G>A c.(1699-1701)gGg>gAg p.G567E NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 567 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCGCTCACGGGGATCTGGAGC 0.667000 21 25 0 0 1 0 0 CYP2D7 1564 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 5 30 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56423973 56423973 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:56423973C>T ENST00000588751.1 - 5 1234 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K NLRP13_ENST00000342929.3_Missense_Mutation_p.E404K Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 404 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TTCTCAACTTCACTTGAGTCA 0.443000 66 66 0 0 1 0 0 ZNF41 7592 broad.mit.edu 37 X 47307904 47307904 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:47307904C>T ENST00000377065.4 - 5 1904 c.1265G>A c.(1264-1266)aGa>aAa p.R422K ZNF41_ENST00000313116.7_Missense_Mutation_p.R422K|ZNF41_ENST00000397050.2_Missense_Mutation_p.R432K NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 464 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) TGCTGATTTTCTTGTGAAAGC 0.448000 91 143 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138376659 138376659 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr9:138376659C>T ENST00000356818.2 + 4 852 c.303C>T c.(301-303)ctC>ctT p.L101L PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.L101L|PPP1R26_ENST00000605660.1_Silent_p.L101L|PPP1R26_ENST00000605286.1_Silent_p.L101L|PPP1R26_ENST00000604351.1_Silent_p.L101L NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 101 nucleolus protein binding TCTGTGGTCTCGTTGCTGACT 0.617000 86 14 0 0 1 0 0 VPS51 738 broad.mit.edu 37 11 64876943 64876943 + Silent SNP C C A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr11:64876943C>A ENST00000279281.3 + 6 1727 c.1635C>A c.(1633-1635)ctC>ctA p.L545L VPS51_ENST00000527646.1_3'UTR NM_013265.2 NP_037397.2 vacuolar protein sorting 51 homolog (S. cerevisiae) TCCTCACTCTCACTGATGAAC 0.612000 35 36 6.97489e-18 7.20271e-18 1 1 0 HAP1 9001 broad.mit.edu 37 17 39881252 39881252 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:39881252G>A ENST00000393939.2 - 10 1495 c.1486C>T c.(1486-1488)Ccg>Tcg p.P496S HAP1_ENST00000347901.4_Missense_Mutation_p.P521S|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.P504S|HAP1_ENST00000310778.5_Missense_Mutation_p.P573S P54257 HAP1_HUMAN huntingtin-associated protein 1 556 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) TCCTCAGCCGGCACCTTCTTG 0.627000 6 516 0 0 1 0 0 KRTAP17-1 83902 broad.mit.edu 37 17 39471682 39471682 + Missense_Mutation SNP C C G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:39471682C>G ENST00000334202.3 - 1 265 c.221G>C c.(220-222)gGc>gCc p.G74A NM_031964.1 NP_114170.1 Q9BYP8 KR171_HUMAN keratin associated protein 17-1 74 intermediate filament haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) tccacagcagccacccccgca 0.657000 11 19 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43163917 43163917 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:43163917C>T ENST00000252050.4 + 10 2583 c.2499C>T c.(2497-2499)gcC>gcT p.A833A CUL9_ENST00000354495.3_Silent_p.A723A|CUL9_ENST00000372647.2_Silent_p.A833A NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 833 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 AGATCTTCGCCAGCATCGACT 0.572000 63 81 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 12684 12684 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrM:12684G>A ENST00000361567.2 + 1 348 c.348G>A c.(346-348)caG>caA p.Q116Q P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 116 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) AACATTAATCAGTTCTTCAAA 0.368000 6 327 0 0 1 0 0 HYI 81888 broad.mit.edu 37 1 43916981 43916981 + Splice_Site SNP T T A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:43916981T>A ENST00000372425.4 - 8 957 c.760_splice c.e8-1 p.G254_splice HYI_ENST00000372426.1_Splice_Site_p.G206_splice|HYI_ENST00000372432.1_Splice_Site_p.*248_splice|SZT2_ENST00000562955.1_3'UTR|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000372434.1_Splice_Site_p.G279_splice|HYI_ENST00000583037.1_Splice_Site_p.G181_splice Q5T013 HYI_HUMAN hydroxypyruvate isomerase (putative) 254 hydroxypyruvate isomerase activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 6 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTACTGTGTCTCCTGCAGGGA 0.662000 74 113 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31414954 31414954 + Missense_Mutation SNP T T A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:31414954T>A ENST00000389202.2 + 7 741 c.692T>A c.(691-693)aTc>aAc p.I231N RP11-120K18.2_ENST00000567545.1_RNA NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 231 VWFA. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GCCACGGGCATCCTGACAGTG 0.612000 14 97 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512918 248512918 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:248512918C>T ENST00000317861.1 + 1 842 c.842C>T c.(841-843)cCc>cTc p.P281L NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 ATAATGCCTCCCCTCTTTAAC 0.398000 52 150 0 0 1 0 0 FAM170A 340069 broad.mit.edu 37 5 118969934 118969934 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr5:118969934C>T ENST00000515256.1 + 3 663 c.491C>T c.(490-492)tCt>tTt p.S164F A1A519 F170A_HUMAN family with sequence similarity 170, member A 164 intracellular zinc ion binding p.S164F(2) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 GTGACCCTTTCTGAGGTTGTG 0.517000 37 60 0 0 1 0 0 TRMT11 60487 broad.mit.edu 37 6 126359916 126359916 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:126359916C>T ENST00000334379.5 + 13 1447 c.1326C>T c.(1324-1326)ttC>ttT p.F442F TRMT11_ENST00000368332.3_Silent_p.F437F NM_001031712.2 NP_001026882.2 Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 homolog (S. cerevisiae) 442 tRNA processing methyltransferase activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(226;0.0356) ATAATTCCTTCCGTGAGAAAT 0.333000 66 11 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92534372 92534372 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr11:92534372G>A ENST00000298047.6 + 9 8210 c.8193G>A c.(8191-8193)agG>agA p.R2731R FAT3_ENST00000409404.2_Silent_p.R2731R|FAT3_ENST00000525166.1_Silent_p.R2581R Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2731 Cadherin 25. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACACCCTGAGGATTTTGCCCA 0.473000 TCGA Ovarian(4;0.039) 19 71 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39228673 39228673 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:39228673G>A ENST00000340369.3 - 2 2492 c.2264C>T c.(2263-2265)cCc>cTc p.P755L XIRP1_ENST00000396251.1_Missense_Mutation_p.P755L|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 755 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGGGCTCATGGGCTGCTCTTC 0.597000 38 38 0 0 1 0 0 PSMD12 5718 broad.mit.edu 37 17 65341905 65341905 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:65341905G>A ENST00000356126.3 - 8 971 c.864C>T c.(862-864)caC>caT p.H288H PSMD12_ENST00000357146.4_Silent_p.H268H NM_002816.3 NP_002807.1 O00232 PSD12_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 288 PCI. 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|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) CACTTATTCGGTGAACCAAAT 0.353000 35 45 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26925653 26925653 + Splice_Site SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:26925653C>T ENST00000321765.5 - 2 384 c.51_splice c.e2-1 p.G18_splice NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 18 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) GATGGTTTTCCCTGAGAAAGA 0.562000 30 37 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18393610 18393610 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:18393610C>T ENST00000338745.6 - 10 3387 c.1653G>A c.(1651-1653)atG>atA p.M551I SATB1_ENST00000454909.2_Missense_Mutation_p.M551I|SATB1_ENST00000417717.2_Missense_Mutation_p.M551I|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 551 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 ACCTTCGGATCATGGAGAGGT 0.522000 52 64 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41447102 41447102 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr21:41447102C>T ENST00000400454.1 - 27 5227 c.4750G>A c.(4750-4752)Gaa>Aaa p.E1584K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1584 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGCCCTTCTTCGTTTTGGACA 0.527000 34 7 0 0 1 0 0 SCPEP1 59342 broad.mit.edu 37 17 55068477 55068477 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:55068477C>T ENST00000262288.3 + 6 619 c.564C>T c.(562-564)acC>acT p.T188T SCPEP1_ENST00000571898.1_3'UTR NM_021626.2 NP_067639.1 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 188 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) AGCGAGGGACCATCAAGTGCA 0.527000 99 149 0 0 1 0 0 IZUMO2 126123 broad.mit.edu 37 19 50662765 50662765 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:50662765G>A ENST00000293405.3 - 3 380 c.380C>T c.(379-381)tCa>tTa p.S127L NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 127 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 TAATTCATATGAAATTAAAAC 0.458000 23 37 0 0 1 0 0 KDM8 79831 broad.mit.edu 37 16 27224963 27224963 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:27224963C>T ENST00000286096.4 + 3 729 c.556C>T c.(556-558)Cgg>Tgg p.R186W KDM8_ENST00000441782.2_Missense_Mutation_p.R224W|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000568965.1_Intron|CTD-3203P2.1_ENST00000567108.1_RNA NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 186 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen AACAGTCCCCCGGCTGCACCG 0.517000 51 83 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167250699 167250699 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:167250699G>A ENST00000308378.3 - 8 1270 c.965C>T c.(964-966)cCt>cTt p.P322L WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.P386L|WDR49_ENST00000476376.1_Missense_Mutation_p.P147L NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 322 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CTGGTAATCAGGGTGAAGAAC 0.393000 36 44 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19349160 19349160 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:19349160C>T ENST00000252575.5 + 11 3392 c.3349C>T c.(3349-3351)Cgc>Tgc p.R1117C NCAN_ENST00000538881.1_Missense_Mutation_p.R568C NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1117 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GAAGGACTGCCGCCGCCGCTC 0.642000 52 62 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149439322 149439322 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr5:149439322C>T ENST00000286301.3 - 15 2364 c.2073G>A c.(2071-2073)caG>caA p.Q691Q NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 691 Protein kinase. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CCTCGGGGTCCTGGCCGGGGC 0.577000 67 13 0 0 1 0 0 KRT16P6 353194 broad.mit.edu 37 17 16722266 16722266 + RNA SNP C C T rs2656363 by1000genomes TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:16722266C>T ENST00000417510.1 - 0 1464 TGGGCATCCTCGCCCTCCAGC 0.592000 26 88 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67801048 67801048 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr13:67801048C>T ENST00000544246.1 - 2 2216 c.1525G>A c.(1525-1527)Gga>Aga p.G509R PCDH9_ENST00000377861.3_Missense_Mutation_p.G509R|PCDH9_ENST00000456367.1_Missense_Mutation_p.G509R|PCDH9_ENST00000328454.5_Missense_Mutation_p.G509R|PCDH9_ENST00000377865.2_Missense_Mutation_p.G509R NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 509 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GCATTCGGTCCAAGCTGATAA 0.413000 39 38 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81675116 81675116 + Nonsense_Mutation SNP G G T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:81675116G>T ENST00000550584.2 - 26 3427 c.3132C>A c.(3130-3132)tgC>tgA p.C1044* PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.C1029*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.C1044*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.C1038*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.C939*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.C580*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.C1023*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.C943*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.C891*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.C230*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.C1029* NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 943 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CATCTACCAAGCATTCCATAA 0.388000 39 46 1.03484e-13 1.06329e-13 1 1 0 MAGT1 84061 broad.mit.edu 37 X 77112265 77112265 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:77112265G>A ENST00000358075.6 - 5 819 c.733C>T c.(733-735)Ctc>Ttc p.L245F NM_032121.5 NP_115497.4 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 213 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 TTATTAAAGAGAAATTCCATA 0.343000 74 113 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62197525 62197525 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr20:62197525G>A ENST00000467148.1 - 8 2719 c.2650C>T c.(2650-2652)Cct>Tct p.P884S HELZ2_ENST00000427522.2_Missense_Mutation_p.P315S NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator AGTGCCCCAGGGCTGAGCAGG 0.697000 4 19 0 0 1 0 0 MSN 4478 broad.mit.edu 37 X 64953082 64953082 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:64953082C>T ENST00000360270.5 + 7 907 c.735C>T c.(733-735)atC>atT p.I245I NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 245 FERM. leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 GGAGTGAAATCAGGAACATCT 0.448000 T ALK ALCL 59 83 0 0 1 0 0 SLC25A35 399512 broad.mit.edu 37 17 8194751 8194751 + Nonsense_Mutation SNP A A T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:8194751A>T ENST00000380067.2 - 3 538 c.494T>A c.(493-495)tTa>tAa p.L165* SLC25A35_ENST00000577745.1_Nonsense_Mutation_p.L165*|SLC25A35_ENST00000396278.1_Nonsense_Mutation_p.L165*|SLC25A35_ENST00000579192.1_Nonsense_Mutation_p.L165*|SLC25A35_ENST00000580340.1_Nonsense_Mutation_p.L165* NM_201520.1 NP_958928.1 Q3KQZ1 S2535_HUMAN solute carrier family 25, member 35 165 transport integral to membrane|mitochondrial inner membrane breast(2)|large_intestine(2)|lung(2) 6 CCCACGCCATAACCCCACCAG 0.622000 31 39 0 0 1 0 0 TOP3B 8940 broad.mit.edu 37 22 22318363 22318363 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr22:22318363C>T ENST00000398793.2 - 11 1570 c.1136G>A c.(1135-1137)cGg>cAg p.R379Q TOP3B_ENST00000357179.5_Missense_Mutation_p.R379Q|TOP3B_ENST00000413067.2_Missense_Mutation_p.R108Q NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 379 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) ATGGCCTTTCCGCGGGCGGTT 0.612000 39 96 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87437474 87437474 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr8:87437474C>T ENST00000517970.1 + 10 1391 c.1084C>T c.(1084-1086)Cat>Tat p.H362Y WWP1_ENST00000349423.2_Missense_Mutation_p.H144Y|WWP1_ENST00000265428.4_Missense_Mutation_p.H362Y|WWP1_ENST00000341922.2_Missense_Mutation_p.H232Y NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 362 WW 1. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 AAAAGATCCTCATGGTAGAAC 0.353000 44 53 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11333469 11333469 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:11333469C>T ENST00000294618.7 - 26 3193 c.3182G>A c.(3181-3183)tGc>tAc p.C1061Y DOCK6_ENST00000319867.7_Missense_Mutation_p.C400Y NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1061 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 CAGGGGGCAGCAGGGGAGGTT 0.632000 3 14 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27761270 27761270 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:27761270G>A ENST00000261588.4 + 16 3008 c.2989G>A c.(2989-2991)Gaa>Aaa p.E997K NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 997 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CAACGGAATAGAAATATTCAG 0.483000 15 30 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141618885 141618885 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:141618885C>T ENST00000548136.1 + 1 269 c.210C>T c.(208-210)atC>atT p.I70I MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CCCTGGAGATCCTGGTCACAA 0.493000 147 94 0 0 1 0 0 HTR6 3362 broad.mit.edu 37 1 20005724 20005724 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:20005724G>A ENST00000289753.1 + 3 1653 c.1186G>A c.(1186-1188)Gcc>Acc p.A396T NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 396 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) GCGGCTCACGGCCCAGCTGCT 0.711000 11 8 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62197524 62197524 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr20:62197524G>A ENST00000467148.1 - 8 2720 c.2651C>T c.(2650-2652)cCt>cTt p.P884L HELZ2_ENST00000427522.2_Missense_Mutation_p.P315L NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CAGTGCCCCAGGGCTGAGCAG 0.701000 4 19 0 0 1 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237090 30237090 + Silent SNP C C T rs139272287 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:30237090C>T ENST00000378988.4 + 2 494 c.393C>T c.(391-393)tcC>tcT p.S131S NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 131 MAGE. protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 TAAAAAAGTCCGTTACAAAGG 0.463000 12 26 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3304693 3304693 + Missense_Mutation SNP C C A rs104895142 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:3304693C>A ENST00000219596.1 - 2 414 c.375G>T c.(373-375)gaG>gaT p.E125D MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 125 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CCTCGTTCCCCTCGGGGTGGT 0.667000 20 37 1.55795e-14 1.6048e-14 1 1 0 ENOX2 10495 broad.mit.edu 37 X 129771337 129771337 + Missense_Mutation SNP G G A rs148433684 byFrequency TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:129771337G>A ENST00000338144.3 - 12 1681 c.1264C>T c.(1264-1266)Cgt>Tgt p.R422C ENOX2_ENST00000370935.1_Missense_Mutation_p.R393C|ENOX2_ENST00000370927.1_Missense_Mutation_p.R422C|ENOX2_ENST00000394363.1_Missense_Mutation_p.R393C NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 422 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 AGCTGCCAACGGAGGCTGTCA 0.418000 80 79 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42772653 42772653 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr13:42772653C>T ENST00000379274.2 + 18 2228 c.1799C>T c.(1798-1800)tCg>tTg p.S600L DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.S491L|DGKH_ENST00000261491.4_Missense_Mutation_p.S736L|DGKH_ENST00000536612.1_Missense_Mutation_p.S600L|DGKH_ENST00000540693.1_Missense_Mutation_p.S736L|DGKH_ENST00000337343.4_Missense_Mutation_p.S736L Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 736 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.S736L(1) breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) GCTGGGAGTTCGATTATCAAC 0.413000 28 19 0 0 1 0 0 CDC20 991 broad.mit.edu 37 1 43825262 43825262 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:43825262C>T ENST00000372462.1 + 2 486 c.283C>T c.(283-285)Ctg>Ttg p.L95L CDC20_ENST00000310955.6_Silent_p.L95L Q12834 CDC20_HUMAN cell division cycle 20 95 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CAGCTTCCTCCTGAGCAAGGA 0.557000 61 68 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168834204 168834204 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:168834204C>T ENST00000464456.1 - 7 2092 c.892G>A c.(892-894)Gga>Aga p.G298R MECOM_ENST00000433243.2_Missense_Mutation_p.G299R|MECOM_ENST00000460814.1_Missense_Mutation_p.G298R|MECOM_ENST00000264674.3_Missense_Mutation_p.G363R|MECOM_ENST00000494292.1_Missense_Mutation_p.G486R|MECOM_ENST00000472280.1_Missense_Mutation_p.G299R|MECOM_ENST00000392736.3_Missense_Mutation_p.G298R|MECOM_ENST00000468789.1_Missense_Mutation_p.G298R NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 AAAGAAAATCCAGGAGCTGTT 0.473000 36 60 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132548901 132548901 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:132548901C>T ENST00000370828.3 - 1 617 c.93G>A c.(91-93)tcG>tcA p.S31S NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 31 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) GTCGCACTTCCGAGCAACTTT 0.637000 86 105 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94046498 94046498 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr14:94046498G>A ENST00000553484.1 + 19 2591 c.2437G>A c.(2437-2439)Gag>Aag p.E813K UNC79_ENST00000555664.1_Missense_Mutation_p.E813K|UNC79_ENST00000256339.4_Missense_Mutation_p.E636K|UNC79_ENST00000393151.2_Missense_Mutation_p.E813K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 813 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CTTTCAGATGGAGTTACAAGA 0.403000 34 67 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105153109 105153109 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:105153109G>A ENST00000428173.2 + 13 1782 c.1479G>A c.(1477-1479)caG>caA p.Q493Q NRK_ENST00000243300.9_Silent_p.Q492Q Q7Z2Y5 NRK_HUMAN Nik related kinase 492 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GGCTTCTGCAGGTACAGTCCC 0.537000 HNSCC(51;0.14) 27 49 0 0 1 0 0 DMWD 1762 broad.mit.edu 37 19 46288930 46288930 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:46288930G>A ENST00000593999.1 - 1 301 c.302C>T c.(301-303)tCc>tTc p.S101F DMWD_ENST00000377735.3_Silent_p.V608V|DMWD_ENST00000270223.6_Silent_p.V608V GGAACAGGAGGACTGTGAGCC 0.682000 22 30 0 0 1 0 0 CYP3A5 1577 broad.mit.edu 37 7 99245936 99245936 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:99245936C>T ENST00000343703.5 - 14 1857 c.1471G>A c.(1471-1473)Gga>Aga p.G491R CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.G501R cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) ACTCATTCTCCACTTAGGGTT 0.378000 52 45 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169626382 169626382 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:169626382C>T ENST00000366787.3 - 17 2680 c.2431G>A c.(2431-2433)Gaa>Aaa p.E811K XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 811 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TTGTCTCGTTCATTGAAGACA 0.468000 38 6 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12647616 12647616 + Silent SNP C C A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:12647616C>A ENST00000425538.1 + 8 1034 c.834C>A c.(832-834)tcC>tcA p.S278S MYOCD_ENST00000395988.1_Silent_p.S182S|MYOCD_ENST00000343344.4_Silent_p.S278S NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 278 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CAGAGAAGTCCCCTCCACCTA 0.552000 48 47 1.66251e-12 1.69551e-12 1 1 0 IGKV1-8 28942 broad.mit.edu 37 2 89292166 89292166 + RNA SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:89292166C>T ENST00000495489.1 - 0 159 GACTCTGTCTCCTGTAGATGC 0.458000 120 150 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459909 66459909 + RNA SNP T T C rs146531631 by1000genomes TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr9:66459909T>C ENST00000424345.1 + 0 169 cattaaaatcttgggcatgca 0.368000 3 13 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33148920 33148920 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:33148920C>T ENST00000341947.2 - 9 1374 c.1147G>A c.(1147-1149)Gga>Aga p.G383R COL11A2_ENST00000374712.1_Missense_Mutation_p.G302R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G323R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G297R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G336R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G357R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G362R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G276R NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 383 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCTTTCTCTCCCTTCAGCCCT 0.577000 46 79 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41075606 41075606 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:41075606G>A ENST00000352632.3 + 32 7086 c.7000G>A c.(7000-7002)Gag>Aag p.E2334K SPTBN4_ENST00000598249.1_Missense_Mutation_p.E2334K|SPTBN4_ENST00000392025.1_Missense_Mutation_p.E1077K Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2334 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCAGGAGAAAGAGGCAGGCCC 0.597000 13 20 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7637785 7637785 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:7637785G>A ENST00000359156.4 - 11 2888 c.2686C>T c.(2686-2688)Cca>Tca p.P896S CD163_ENST00000396620.3_Missense_Mutation_p.P929S|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Missense_Mutation_p.P896S|CD163_ENST00000541972.1_Missense_Mutation_p.P884S NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 896 SRCR 8. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GGTCCTTTTGGACACTGAACA 0.547000 63 69 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176679284 176679284 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:176679284C>T ENST00000367662.3 + 11 4787 c.3623C>T c.(3622-3624)tCc>tTc p.S1208F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1208 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 TGTCCTGTTTCCTTGGTAACT 0.463000 83 58 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64876733 64876733 + Missense_Mutation SNP T T C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:64876733T>C ENST00000533854.1 + 4 580 c.343T>C c.(343-345)Ttt>Ctt p.F115L CACNG5_ENST00000169565.3_Missense_Mutation_p.F115L|CACNG5_ENST00000307139.3_Missense_Mutation_p.F115L Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 115 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GTTCATTGGGTTTATCCTGAA 0.507000 93 104 0 0 1 0 0 H2AFY2 55506 broad.mit.edu 37 10 71868922 71868922 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr10:71868922G>A ENST00000373255.4 + 8 1176 c.912G>A c.(910-912)aaG>aaA p.K304K AIFM2_ENST00000373248.1_Intron NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 304 Macro. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 CGGAGGACAAGAAGCTAAAGT 0.532000 34 69 0 0 1 0 0 ACOT11 26027 broad.mit.edu 37 1 55060287 55060287 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:55060287C>T ENST00000371316.3 + 6 612 c.530C>T c.(529-531)gCg>gTg p.A177V ACOT11_ENST00000343744.2_Missense_Mutation_p.A177V|ACOT11_ENST00000481208.1_3'UTR NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 177 fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 CACAGTGTGGCGGCTGAGCGC 0.632000 10 83 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57646651 57646651 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:57646651C>T ENST00000269834.1 - 5 1439 c.1054G>A c.(1054-1056)Gat>Aat p.D352N NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D352N(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCTCATGATCGATGACATTG 0.383000 98 108 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21069125 21069125 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:21069125G>A ENST00000381545.3 + 16 2272 c.2053G>A c.(2053-2055)Gga>Aga p.G685R LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G685R|SLCO1B3_ENST00000553473.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 685 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) ACCTTCTGCTGGAACAGATAG 0.353000 43 42 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111022256 111022256 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:111022256C>T ENST00000262839.2 - 10 3107 c.2189G>A c.(2188-2190)aGa>aAa p.R730K NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 730 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTTGGAATTTCTTATCATAGC 0.323000 27 51 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183885614 183885614 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:183885614C>T ENST00000304685.3 + 17 2349 c.1888C>T c.(1888-1890)Cat>Tat p.H630Y RGL1_ENST00000367531.1_Missense_Mutation_p.H630Y|RGL1_ENST00000539189.1_Missense_Mutation_p.H566Y|RGL1_ENST00000536277.1_Missense_Mutation_p.H593Y|RGL1_ENST00000360851.3_Missense_Mutation_p.H595Y NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 595 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 TTCTTCTATCCATTCCATGGA 0.483000 72 164 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113376793 113376793 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:113376793G>A ENST00000316407.4 - 7 4146 c.3736C>T c.(3736-3738)Cat>Tat p.H1246Y KIAA2018_ENST00000478658.1_Missense_Mutation_p.H1246Y|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1246 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 CTGCTCTGATGGATAAGATTA 0.443000 40 43 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160729052 160729052 + Missense_Mutation SNP C C T rs115433124 by1000genomes TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:160729052C>T ENST00000263636.4 - 13 2054 c.2027G>A c.(2026-2028)cGa>cAa p.R676Q LY75_ENST00000553424.1_Missense_Mutation_p.R676Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R676Q|LY75_ENST00000554112.1_Missense_Mutation_p.R676Q|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R676Q NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TTGGCAGAATCGTTCAGCTTC 0.353000 80 119 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48367872 48367872 + Splice_Site SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:48367872C>T ENST00000380518.3 - 53 4481 c.4317_splice c.e53+1 p.T1439_splice COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Splice_Site_p.T1370_splice NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1439 Fibrillar collagen NC1. T -> M (in SEDC). axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCCCACTCACCGTGCAGCCAT 0.622000 57 65 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47887258 47887258 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr20:47887258C>T ENST00000396105.1 - 3 1337 c.1091G>A c.(1090-1092)aGc>aAc p.S364N ZNFX1_ENST00000371752.1_Missense_Mutation_p.S364N|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S364N NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 364 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GATAGCAGTGCTGTCGTATTT 0.478000 76 182 0 0 1 0 0 ST7 7982 broad.mit.edu 37 7 116859151 116859151 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:116859151C>T ENST00000265437.5 + 14 1633 c.1419C>T c.(1417-1419)atC>atT p.I473I ST7_ENST00000432298.1_Silent_p.I427I|ST7_ENST00000393449.1_Silent_p.I468I|ST7_ENST00000393444.3_Silent_p.I407I|ST7_ENST00000393446.2_Intron|ST7_ENST00000393447.4_Silent_p.I430I|ST7_ENST00000323984.3_Silent_p.I473I|ST7_ENST00000393443.1_Silent_p.I395I|ST7_ENST00000422922.1_Silent_p.I404I|ST7_ENST00000393451.3_Silent_p.I450I NM_021908.2 NP_068708.1 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 473 integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TTCGGATGATCCCTTATCCCT 0.423000 163 123 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17052040 17052040 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:17052040C>T ENST00000418129.2 + 2 1289 c.824C>T c.(823-825)tCc>tTc p.S275F PLCL2_ENST00000432376.1_Missense_Mutation_p.S275F|PLCL2_ENST00000396755.2_Missense_Mutation_p.S275F|PLCL2_ENST00000460467.1_Intron NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 401 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GGCTGGCTCTCCATAGACGGG 0.418000 52 78 0 0 1 0 0 MFHAS1 9258 broad.mit.edu 37 8 8748178 8748178 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr8:8748178G>A ENST00000276282.6 - 1 2977 c.2391C>T c.(2389-2391)ctC>ctT p.L797L NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 797 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GAGCTGGCAAGAGCCCATGCA 0.607000 45 57 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49179561 49179561 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr11:49179561G>A ENST00000340334.7 - 15 1798 c.1430C>T c.(1429-1431)tCt>tTt p.S477F FOLH1_ENST00000343844.4_Missense_Mutation_p.S184F|FOLH1_ENST00000256999.2_Missense_Mutation_p.S492F|FOLH1_ENST00000356696.3_Missense_Mutation_p.S492F|FOLH1_ENST00000533034.1_Missense_Mutation_p.S477F NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 492 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TTCATAAAGAGATTTGCCTTC 0.353000 33 30 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35420854 35420854 + Translation_Start_Site SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:35420854G>A ENST00000439785.1 + 2 447 c.3G>A c.(1-3)atG>atA p.M1I ZNF30_ENST00000303586.7_Start_Codon_SNP_p.M1I|ZNF30_ENST00000601540.1_3'UTR|ZNF30_ENST00000601142.1_Start_Codon_SNP_p.M1I|ZNF30_ENST00000601957.1_Start_Codon_SNP_p.M1I|ZNF30_ENST00000426813.2_5'UTR NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) CTCAAAGCATGGCCCATGTAA 0.383000 4 14 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063580 9063580 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:9063580C>T ENST00000397910.4 - 3 24069 c.23866G>A c.(23866-23868)Gat>Aat p.D7956N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7958 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 CATGATACATCCTCAGGACCC 0.468000 29 32 0 0 1 0 0 C4A 720 broad.mit.edu 37 6 31962395 31962395 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:31962395G>A ENST00000428956.2 + 21 2797 c.2713G>A c.(2713-2715)Gca>Aca p.A905T C4A_ENST00000498271.1_Missense_Mutation_p.A905T NM_007293.2 NP_009224.2 complement component 4A (Rodgers blood group) GGTGCCCACGGCAGCCGCCGC 0.662000 24 145 0 0 1 0 0 CIAPIN1 57019 broad.mit.edu 37 16 57465147 57465147 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:57465147G>A ENST00000394391.4 - 7 903 c.662C>T c.(661-663)cCa>cTa p.P221L CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000569979.1_Intron|CIAPIN1_ENST00000565961.1_Intron|CIAPIN1_ENST00000568940.1_Intron|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.P208L|CIAPIN1_ENST00000569370.1_Intron NM_020313.2 NP_064709.2 Q6FI81 CPIN1_HUMAN cytokine induced apoptosis inhibitor 1 221 anti-apoptosis|apoptosis cytoplasm|nucleolus cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 CAAATCTTCTGGATCCAGCAG 0.493000 51 63 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27297912 27297912 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr8:27297912G>A ENST00000397501.1 + 26 2801 c.1993G>A c.(1993-1995)Gac>Aac p.D665N PTK2B_ENST00000420218.2_Missense_Mutation_p.D665N|PTK2B_ENST00000517339.1_Missense_Mutation_p.D665N|PTK2B_ENST00000544172.1_Missense_Mutation_p.D665N|PTK2B_ENST00000346049.5_Missense_Mutation_p.D665N|PTK2B_ENST00000397497.4_Missense_Mutation_p.D411N|PTK2B_ENST00000338238.4_Missense_Mutation_p.D665N NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 665 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CTGGGACTACGACCCCAGTGA 0.652000 57 47 0 0 1 0 0 NFKBIB 4793 broad.mit.edu 37 19 39396030 39396030 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:39396030C>T ENST00000392079.3 + 3 476 c.378C>T c.(376-378)ccC>ccT p.P126P NFKBIB_ENST00000313582.5_Silent_p.P158P|NFKBIB_ENST00000572515.1_Silent_p.P158P Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 158 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GGGAAGCCCCCGACACCTACC 0.687000 57 57 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1097824 1097824 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr11:1097824C>T ENST00000441003.2 + 36 6944 c.6917C>T c.(6916-6918)aCc>aTc p.T2306I MUC2_ENST00000361558.6_3'UTR NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4668 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGCTCCACGACCAAGCGCCCG 0.662000 14 3 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113444977 113444977 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr9:113444977G>A ENST00000416899.2 + 2 229 c.103G>A c.(103-105)Gaa>Aaa p.E35K MUSK_ENST00000189978.5_Missense_Mutation_p.E35K|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000374448.4_Missense_Mutation_p.E35K O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 35 Ig-like 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 CACTCCTCTTGAAACAGTGGA 0.418000 113 19 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22475441 22475441 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr4:22475441C>T ENST00000334304.5 - 2 552 c.283G>A c.(283-285)Gag>Aag p.E95K GPR125_ENST00000502482.1_Missense_Mutation_p.E95K NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 95 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TTCTTCAGCTCGGATATCTTA 0.269000 10 74 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28576947 28576947 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr18:28576947C>T ENST00000434452.1 - 15 2457 c.2303G>A c.(2302-2304)gGa>gAa p.G768E DSC3_ENST00000360428.4_Missense_Mutation_p.G768E NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 768 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CATTCCTGATCCCATAGTACC 0.433000 34 45 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34071968 34071968 + Missense_Mutation SNP C C T rs145918686 byFrequency TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:34071968C>T ENST00000254466.6 - 6 2575 c.2548G>A c.(2548-2550)Gct>Act p.A850T GAS2L2_ENST00000587565.1_Missense_Mutation_p.A834T NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 850 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCCAATGGAGCGGCTGGctct 0.612000 24 28 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10738633 10738633 + Silent SNP C C T rs146675623 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:10738633C>T ENST00000586078.1 + 4 307 c.198C>T c.(196-198)ccC>ccT p.P66P SLC44A2_ENST00000407327.4_Silent_p.P64P|SLC44A2_ENST00000335757.5_Silent_p.P66P NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 66 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) TGATCTACCCCACTGACAGCC 0.587000 22 24 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183849803 183849803 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:183849803G>A ENST00000304685.3 + 6 1045 c.584G>A c.(583-585)cGa>cAa p.R195Q RGL1_ENST00000367531.1_Missense_Mutation_p.R195Q|RGL1_ENST00000539189.1_Missense_Mutation_p.R160Q|RGL1_ENST00000536277.1_Missense_Mutation_p.R158Q|RGL1_ENST00000360851.3_Missense_Mutation_p.R160Q NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 160 N-terminal Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 GAAGACTTCCGAGAGCCCCCT 0.517000 115 83 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44679946 44679946 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:44679946C>T ENST00000590089.1 + 7 898 c.531C>T c.(529-531)ttC>ttT p.F177F ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Silent_p.F177F|ZNF226_ENST00000454662.2_Silent_p.F177F Q9NYT6 ZN226_HUMAN zinc finger protein 226 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) GGAAAACATTCCTGACTGAGT 0.373000 18 22 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61512110 61512110 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr20:61512110G>A ENST00000266070.4 - 16 5523 c.5198C>T c.(5197-5199)aCc>aTc p.T1733I DIDO1_ENST00000395343.1_Missense_Mutation_p.T1733I NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1733 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GAGCGGGGCGGTGCCCTCGCC 0.627000 160 95 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 157000112 157000112 + Missense_Mutation SNP A A G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:157000112A>G ENST00000348165.5 + 12 1799 c.1439A>G c.(1438-1440)cAg>cGg p.Q480R NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 480 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) CCGTTGCTTCAGGTGATATCC 0.338000 55 199 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152514587 152514587 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:152514587G>A ENST00000427231.2 - 48 6295 c.6093C>T c.(6091-6093)tcC>tcT p.S2031S NEB_ENST00000604864.1_Silent_p.S2031S|NEB_ENST00000397345.3_Silent_p.S2031S|NEB_ENST00000409198.1_Silent_p.S2031S|NEB_ENST00000172853.10_Silent_p.S2031S|NEB_ENST00000603639.1_Silent_p.S2031S NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2031 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACTCTTCCAAGGAAAGTTTGT 0.388000 9 7 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79579661 79579661 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr10:79579661G>A ENST00000372391.2 - 16 3523 c.3518C>T c.(3517-3519)cCg>cTg p.P1173L DLG5_ENST00000372388.2_Missense_Mutation_p.P833L|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1173 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ACCCACAGACGGCCTGCTAGG 0.652000 63 147 0 0 1 0 0 WASH6P 653440 broad.mit.edu 37 X 155252854 155252854 + RNA SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:155252854G>A ENST00000285718.7 + 0 805 WASH6P_ENST00000461007.1_RNA CTTCCACACTGAGGTAGCCGA 0.652000 4 12 0 0 1 0 0 TWIST1 7291 broad.mit.edu 37 7 19156582 19156582 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:19156582G>A ENST00000242261.5 - 1 713 c.363C>T c.(361-363)acC>acT p.T121T NM_000474.3 NP_000465.1 Q15672 TWST1_HUMAN twist family bHLH transcription factor 1 121 Helix-loop-helix motif. aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 TCAGCGACTGGGTGCGCTGGC 0.697000 40 29 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148865642 148865642 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:148865642C>T ENST00000367467.3 + 18 3511 c.3036C>T c.(3034-3036)ccC>ccT p.P1012P NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1012 Pro-rich. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GGGCCCTCCCCAGTCCCGATG 0.642000 44 13 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24031578 24031578 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr14:24031578G>A ENST00000308724.5 - 15 2302 c.1547C>T c.(1546-1548)tCc>tTc p.S516F RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.S516F NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 516 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) GGACATGTGGGACTGCAGCAC 0.572000 OREG0022605 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 66 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 7 72 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75893829 75893829 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:75893829C>T ENST00000322507.8 - 9 1338 c.1029G>A c.(1027-1029)atG>atA p.M343I COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.M343I|COL12A1_ENST00000416123.2_Missense_Mutation_p.M343I NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 343 Fibronectin type-III 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AAGAGACTTCCATGGCAATCA 0.393000 41 53 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11550485 11550485 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:11550485G>A ENST00000262442.3 + 12 2135 c.2067G>A c.(2065-2067)acG>acA p.T689T DNAH9_ENST00000454412.2_Silent_p.T689T NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 689 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACCCAGAGACGAAGGAGATCA 0.443000 115 133 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4118481 4118481 + Missense_Mutation SNP C C G TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr9:4118481C>G ENST00000324333.10 - 3 725 c.532G>C c.(532-534)Ggg>Cgg p.G178R GLIS3_ENST00000381971.3_Missense_Mutation_p.G333R NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 178 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GCCCTCGACCCGTTGATGTAG 0.657000 42 14 0 0 1 0 0 R3HDM4 91300 broad.mit.edu 37 19 900088 900088 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:900088G>A ENST00000361574.5 - 5 607 c.534C>T c.(532-534)gcC>gcT p.A178A R3HDM4_ENST00000587975.1_Silent_p.A157A NM_138774.3 NP_620129.2 Q96D70 CS022_HUMAN R3H domain containing 4 178 Arg-rich. nucleus nucleic acid binding GCTTGAGGACGGCTCGCAGAC 0.642000 29 56 0 0 1 0 0 ERP29 10961 broad.mit.edu 37 12 112460034 112460034 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:112460034C>T ENST00000261735.3 + 3 514 c.364C>T c.(364-366)Cgg>Tgg p.R122W ERP29_ENST00000546477.1_Missense_Mutation_p.R21W|ERP29_ENST00000455836.1_3'UTR NM_006817.3 NP_006808.1 P30040 ERP29_HUMAN endoplasmic reticulum protein 29 122 intracellular protein transport|protein folding|protein secretion endoplasmic reticulum lumen|melanosome protein disulfide isomerase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 CTACCTCTTCCGGGATGGGGA 0.527000 30 44 0 0 1 0 0 C16orf93 90835 broad.mit.edu 37 16 30768807 30768807 + Missense_Mutation SNP T T A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:30768807T>A ENST00000543610.1 - 9 1947 c.986A>T c.(985-987)aAg>aTg p.K329M PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_Intron|C16orf93_ENST00000541260.1_Missense_Mutation_p.K394M NM_001014979.2 NP_001014979.2 A1A4V9 CP093_HUMAN chromosome 16 open reading frame 93 329 breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6) 11 TCACTTGGTCTTGCTCTTGCC 0.592000 168 221 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131912223 131912223 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:131912223G>A ENST00000359827.3 - 7 2831 c.1869C>T c.(1867-1869)atC>atT p.I623I PLXNA4_ENST00000321063.4_Silent_p.I623I Q9HCM2 PLXA4_HUMAN plexin A4 623 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCTCTGTGATGATCCGGGGCA 0.572000 33 55 0 0 1 0 0 PLIN1 5346 broad.mit.edu 37 15 90210254 90210254 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr15:90210254G>A ENST00000300055.5 - 8 1287 c.1122C>T c.(1120-1122)tcC>tcT p.S374S PLIN1_ENST00000430628.2_Silent_p.S374S NM_002666.4 NP_002657.3 O60240 PLIN1_HUMAN perilipin 1 374 triglyceride catabolic process lipid particle lipid binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2) 13 CCTTGGTTGAGGAGACAGCAG 0.617000 35 29 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31254897 31254897 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:31254897G>A ENST00000407793.2 + 21 2434 c.2183G>A c.(2182-2184)cGt>cAt p.R728H DDX11_ENST00000545668.1_Missense_Mutation_p.R728H|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000542838.1_Missense_Mutation_p.R728H|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.R702H NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 728 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CTGCTGGGCCGTCTGGCTGCC 0.637000 Multiple Myeloma(12;0.14) 4 51 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21206546 21206546 + Splice_Site SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr17:21206546G>A ENST00000342679.4 + 7 817 c.568_splice c.e7+1 p.D190_splice MAP2K3_ENST00000316920.6_Splice_Site_p.D161_splice|MAP2K3_ENST00000361818.5_Splice_Site_p.D161_splice NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 190 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GATCCACAGAGGTCAGTGCCC 0.642000 9 46 0 0 1 0 0 HAUS5 23354 broad.mit.edu 37 19 36108240 36108240 + Silent SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:36108240C>T ENST00000203166.5 + 8 632 c.607C>T c.(607-609)Ctg>Ttg p.L203L HAUS5_ENST00000379045.2_Silent_p.L203L NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 203 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 GCAGAACCTCCTGCTTCCCCA 0.597000 36 72 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44763753 44763753 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:44763753C>T ENST00000296091.4 + 4 1700 c.1444C>T c.(1444-1446)Cat>Tat p.H482Y ZNF502_ENST00000449836.1_Missense_Mutation_p.H482Y|ZNF502_ENST00000436624.2_Missense_Mutation_p.H482Y NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 482 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) TACTGAACATCATAGAACTCA 0.413000 27 53 0 0 1 0 0 IARS2 55699 broad.mit.edu 37 1 220284153 220284153 + Missense_Mutation SNP G G T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:220284153G>T ENST00000366922.1 + 11 1468 c.1137G>T c.(1135-1137)aaG>aaT p.K379N IARS2_ENST00000302637.5_Missense_Mutation_p.K451N Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 451 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) AGACTGCAAAGAATTTGTTGA 0.343000 9 137 0.000442599 0.00044805 1 1 0 COL11A2 1302 broad.mit.edu 37 6 33136330 33136330 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:33136330C>T ENST00000341947.2 - 54 4153 c.3926G>A c.(3925-3927)gGg>gAg p.G1309E COL11A2_ENST00000374712.1_Missense_Mutation_p.G1228E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1249E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1223E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1262E|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1283E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1288E|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1202E NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1309 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TCCATTCTCCCCGGTGGGACC 0.632000 25 33 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659741 24659741 + RNA SNP G G A rs144618782 by1000genomes TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr22:24659741G>A ENST00000414583.2 + 0 3266 NR_003714.1 CTGTGGGAGGGGGGAATGTTC 0.622000 3 34 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814011 123814011 + Missense_Mutation SNP G G A rs140103246 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr11:123814011G>A ENST00000321252.2 - 1 569 c.535C>T c.(535-537)Cgt>Tgt p.R179C NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R179C(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 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;0.0401) CAACTGTCACGAAAGAAGTGG 0.572000 36 8 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814764 137814764 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:137814764C>T ENST00000409968.1 + 3 1092 c.914C>T c.(913-915)tCg>tTg p.S305L THSD7B_ENST00000272643.3_Missense_Mutation_p.S305L|THSD7B_ENST00000413152.2_Missense_Mutation_p.S274L|THSD7B_ENST00000543459.1_Missense_Mutation_p.S164L thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CGGCAGGTTTCGTGTACAAGA 0.363000 19 16 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18633644 18633644 + Missense_Mutation SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:18633644G>A ENST00000406451.3 + 6 797 c.647G>A c.(646-648)cGa>cAa p.R216Q HDAC9_ENST00000417496.2_Missense_Mutation_p.R258Q|HDAC9_ENST00000406072.1_Missense_Mutation_p.R247Q|HDAC9_ENST00000405010.3_Missense_Mutation_p.R216Q|HDAC9_ENST00000428307.2_Missense_Mutation_p.R216Q|HDAC9_ENST00000441542.2_Missense_Mutation_p.R219Q|HDAC9_ENST00000432645.2_Missense_Mutation_p.R216Q|HDAC9_ENST00000401921.1_Missense_Mutation_p.R219Q|HDAC9_ENST00000456174.2_Missense_Mutation_p.R188Q|HDAC9_ENST00000524023.1_Missense_Mutation_p.R183Q NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 216 Interaction with MAPK10 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TTCCCCCTTCGAAAAACTGGT 0.418000 42 101 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9066398 9066398 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:9066398G>A ENST00000397910.4 - 3 21251 c.21048C>T c.(21046-21048)ctC>ctT p.L7016L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7018 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 GCGAGGCAAAGAGCCTTGTCA 0.502000 109 144 0 0 1 0 0 GTPBP2 54676 broad.mit.edu 37 6 43593277 43593277 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:43593277G>A ENST00000307126.5 - 5 527 c.528C>T c.(526-528)gcC>gcT p.A176A GTPBP2_ENST00000307114.7_Silent_p.A88A|GTPBP2_ENST00000476510.1_5'UTR NM_019096.3 NP_061969.3 Q9BX10 GTPB2_HUMAN GTP binding protein 2 176 GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) TCCCCAGGACGGCCACACGGA 0.577000 35 48 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118222590 118222590 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:118222590C>T ENST00000402510.2 - 11 2602 c.2603G>A c.(2602-2604)aGc>aAc p.S868N NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 868 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TTCCTCTGAGCTGCTGCAATC 0.473000 28 16 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82583260 82583260 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:82583260C>T ENST00000423517.2 - 5 7346 c.7009G>A c.(7009-7011)Gaa>Aaa p.E2337K PCLO_ENST00000333891.8_Missense_Mutation_p.E2337K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2268 Poly-Pro.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AACACGGTTTCGGATAAGCTA 0.428000 111 91 0 0 1 0 0 MGLL 11343 broad.mit.edu 37 3 127411100 127411100 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:127411100C>T ENST00000434178.2 - 8 1749 c.853G>A c.(853-855)Gaa>Aaa p.E285K MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000453507.2_Missense_Mutation_p.E265K|MGLL_ENST00000265052.5_Missense_Mutation_p.E295K|MGLL_ENST00000398101.3_Missense_Mutation_p.E259K|MGLL_ENST00000398104.1_Missense_Mutation_p.E285K Q99685 MGLL_HUMAN monoglyceride lipase 285 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 ATGTTTATTTCATGGAAGACG 0.542000 57 80 0 0 1 0 0 RP11-782C8.2 0 broad.mit.edu 37 1 143179972 143179972 + RNA DEL G G - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:143179972delG ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA gaagttaaaagggtgtttgtt 0.393 3 4 --- --- --- --- LOC101927648 101927648 broad.mit.edu 37 1 143411910 143411910 + RNA DEL G G - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:143411910delG ENST00000423249.1 - 0 59 AGGTGGGTAAGGGGGGGAGGA 0.537 3 6 --- --- --- --- RP11-496N12.6 0 broad.mit.edu 37 1 225638760 225638760 + RNA DEL T T - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:225638760delT ENST00000433058.1 - 0 61 cctcctcctctgaccctcttc 0.572 4 2 --- --- --- --- RP11-145A3.1 0 broad.mit.edu 37 1 225930380 225930383 + RNA DEL AAAA AAAA - rs77298029 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr1:225930380_225930383delAAAA ENST00000448264.1 + 0 606 actccatgtcaaaaaaaaaaaaaa 0.471 3 4 --- --- --- --- AC010880.1 0 broad.mit.edu 37 2 16577389 16577390 + RNA DEL AC AC - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:16577389_16577390delAC ENST00000427950.1 + 0 157 agacagatgtacacacacacac 0.475 2 4 --- --- --- --- AC013472.4 0 broad.mit.edu 37 2 27188282 27188282 + RNA DEL C C - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:27188282delC ENST00000416226.1 - 0 32 gaggctgaagcaggagaatcg 0.532 2 4 --- --- --- --- AC012593.1 0 broad.mit.edu 37 2 35058823 35058824 + RNA INS - - AAC rs78091453 by1000genomes TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:35058823_35058824insAAC ENST00000588944.1 + 0 115 aggagaagaagaacaacaagaa 0.411 3 6 --- --- --- --- IGKV3D-20 28874 broad.mit.edu 37 2 90077776 90077778 + RNA DEL CAT CAT - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:90077776_90077778delCAT ENST00000390270.2 + 0 97_99 CAGAGGGAACCATGGAAACCCCA 0.571 67 119 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91895818 91895818 + RNA DEL G G - rs72492119 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:91895818delG ENST00000436174.1 - 0 168 AGTTTTTTTTGgtttgttttt 0.363 4 3 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 7 107 --- --- --- --- LOC101927641 101927641 broad.mit.edu 37 2 200522016 200522017 + RNA INS - - T rs145117118 by1000genomes TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:200522016_200522017insT ENST00000439734.1 + 0 2157 attctgttctgttttttcagtc 0.351 3 4 --- --- --- --- DUSP28 285193 broad.mit.edu 37 2 241500275 241500298 + In_Frame_Del DEL GCGCGCGCCCGGCGTGGCAGAGCT GCGCGCGCCCGGCGTGGCAGAGCT - rs114887011 by1000genomes TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr2:241500275_241500298delGCGCGCGCCCGGCGTGGCAGAGCT ENST00000405954.1 + 1 557_580 c.174_197delGCGCGCGCCCGGCGTGGCAGAGCT c.(172-198)ccg>cc p.PRAPGVAEL58del DUSP28_ENST00000343217.2_In_Frame_Del_p.PRAPGVAEL58del|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000403283.1_In_Frame_Del_p.SSATPGAR24del Q4G0W2 DUS28_HUMAN dual specificity phosphatase 28 58 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity lung(2)|upper_aerodigestive_tract(1) 3 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311) AgcccggcccgcgcgcgcccggcgTGGCAGAGCTGCGCGTGCCC 0.786 4 5 --- --- --- --- RP11-553L6.2 0 broad.mit.edu 37 3 113951739 113951739 + RNA DEL C C - rs75864387 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:113951739delC ENST00000493033.1 + 0 160 RP11-553L6.2_ENST00000481773.1_RNA CTGCCCCCTGCCCCCCCCCCA 0.652 5 6 --- --- --- --- PBX2P1 5088 broad.mit.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:142895155delC ENST00000560287.1 + 0 29 GGCCTCAGGGCCCCCCCCCAG 0.746 4 5 --- --- --- --- LINC01324 104355289 broad.mit.edu 37 3 164519031 164519031 + RNA DEL T T - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr3:164519031delT ENST00000497379.2 - 0 67 TGTGTGTGTGTTTTTTTTTTC 0.294 2 4 --- --- --- --- CPEB2 132864 broad.mit.edu 37 4 15005738 15005739 + In_Frame_Ins INS - - GCG TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr4:15005738_15005739insGCG ENST00000538197.1 + 1 1441_1442 c.1441_1442insGCG c.(1441-1443)cgg>GCGcgg p.480_481insA CPEB2_ENST00000259997.5_In_Frame_Ins_p.43_44insA|CPEB2_ENST00000507071.1_In_Frame_Ins_p.43_44insA|CPEB2_ENST00000541112.1_In_Frame_Ins_p.480_481insA|CPEB2_ENST00000382401.3_In_Frame_Ins_p.43_44insA|CPEB2_ENST00000442003.2_In_Frame_Ins_p.480_481insA|CPEB2_ENST00000382395.3_In_Frame_Ins_p.43_44insA|CPEB2_ENST00000345451.3_In_Frame_Ins_p.43_44insA NM_001177382.1 NP_001170853.1 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding protein 2 43 RRM 2. regulation of translation cytoplasm nucleotide binding|RNA binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 CGTTCCGACGAgcggcggcggc 0.728 11 15 --- --- --- --- RP11-445O3.2 0 broad.mit.edu 37 5 4581232 4581233 + RNA DEL CA CA - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr5:4581232_4581233delCA ENST00000507435.1 - 0 429 gacactcttgcacacacacaca 0.559 2 4 --- --- --- --- RP11-155G15.2 0 broad.mit.edu 37 5 96627919 96627919 + RNA DEL C C - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr5:96627919delC ENST00000504578.1 + 0 71 tgtgatgtatcacatattaaa 0.338 2 4 --- --- --- --- ADRA1B 147 broad.mit.edu 37 5 159344616 159344624 + In_Frame_Del DEL AGAACCTAG AGAACCTAG - rs138161802 byFrequency TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr5:159344616_159344624delAGAACCTAG ENST00000306675.3 + 1 827_835 c.704_712delAGAACCTAG c.(703-714)aag>a p.KNLE235del NM_000679.3 NP_000670.1 P35368 ADA1B_HUMAN adrenoceptor alpha 1B 235 cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) AGAACCACCAAGAACCTAGAGGCAGGAGT 0.512 50 23 --- --- --- --- RP11-146I2.1 0 broad.mit.edu 37 6 15059048 15059049 + RNA INS - - T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:15059048_15059049insT ENST00000437648.1 - 0 426 aaataacattcttttttttttt 0.416 4 3 --- --- --- --- PNPLA1 285848 broad.mit.edu 37 6 36260881 36260882 + Frame_Shift_Ins INS - - C TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr6:36260881_36260882insC ENST00000394571.2 + 3 482_483 c.482_483insC c.(481-483)accfs p.T161fs PNPLA1_ENST00000312917.5_Frame_Shift_Ins_p.T66fs|PNPLA1_ENST00000388715.3_Frame_Shift_Ins_p.T66fs NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 161 Patatin. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 TGTGGCCTCATCCCCCCGACTT 0.653 65 91 --- --- --- --- HOXA11 3207 broad.mit.edu 37 7 27224167 27224169 + In_Frame_Del DEL GCC GCC - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:27224167_27224169delGCC ENST00000006015.3 - 1 666_668 c.595_597delGGC c.(595-597)del p.G199del HOXA11-AS_ENST00000520360.1_RNA NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 199 Poly-Gly. branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 tctcccggcagccgccgccgccg 0.768 T NUP98 CML 2 4 --- --- --- --- LOC646762 646762 broad.mit.edu 37 7 29699825 29699826 + RNA DEL TT TT - rs142232912 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:29699825_29699826delTT ENST00000426767.1 - 0 366 NR_024278.1 ATTATTGACCTTTTTTTTTTCA 0.252 4 2 --- --- --- --- LINC00972 100505913 broad.mit.edu 37 7 85057220 85057221 + RNA DEL AG AG - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr7:85057220_85057221delAG ENST00000438065.1 + 0 137 gtggctcagcagagagagagag 0.500 2 4 --- --- --- --- CTD-2281E23.3 0 broad.mit.edu 37 8 1197070 1197070 + RNA DEL T T - rs66617915 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr8:1197070delT ENST00000517950.1 - 0 311 GATCAGTGTGTGGAGTGATGG 0.572 2 4 --- --- --- --- PRRC2B 84726 broad.mit.edu 37 9 134353994 134353995 + Frame_Shift_Ins INS - - CAGGC TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr9:134353994_134353995insCAGGC ENST00000357304.4 + 17 4801_4802 c.4746_4747insCAGGC c.(4744-4749)gaaggcfs p.EG1582fs PRRC2B_ENST00000458550.1_Frame_Shift_Ins_p.EG888fs|PRRC2B_ENST00000405995.1_Frame_Shift_Ins_p.EG888fs|PRRC2B_ENST00000372249.1_5'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1582 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GAAAGAAGGAGCAGGCCGTGCA 0.634 OREG0019562 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 26 --- --- --- --- RAPGEF1 2889 broad.mit.edu 37 9 134503354 134503355 + In_Frame_Ins INS - - GTG TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr9:134503354_134503355insGTG ENST00000372195.1 - 9 1389_1390 c.1146_1147insCAC c.(1144-1149)tcctct>tcCACctct p.382_383SS>STS RAPGEF1_ENST00000372189.3_In_Frame_Ins_p.365_366SS>STS|RAPGEF1_ENST00000372190.3_In_Frame_Ins_p.383_384SS>STS|RAPGEF1_ENST00000481260.1_5'UTR Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 365 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) CTGTCCAGAGAGGACAGCTGCT 0.609 5 3 --- --- --- --- LBX1-AS1 399806 broad.mit.edu 37 10 103012349 103012349 + RNA DEL T T - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr10:103012349delT ENST00000434878.1 + 0 110 GGGCCAGCCCTTTTTTTTTGC 0.537 2 4 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89405323 89405326 + RNA DEL TTTA TTTA - rs34562444 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr11:89405323_89405326delTTTA ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 aattatattgtttatttatttttg 0.230 8 16 --- --- --- --- RP11-415I12.3 0 broad.mit.edu 37 12 64157309 64157309 + RNA DEL G G - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr12:64157309delG ENST00000509615.2 - 0 238 tcaggaggctggggcaagaag 0.493 2 4 --- --- --- --- LOC642426 642426 broad.mit.edu 37 14 19408019 19408019 + RNA DEL A A - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr14:19408019delA ENST00000548050.1 - 0 279 NR_046104.1 CTGTGGAGCCAAAAAAAAAAT 0.393 4 6 --- --- --- --- METTL3 56339 broad.mit.edu 37 14 21966419 21966422 + Frame_Shift_Del DEL TAGA TAGA - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr14:21966419_21966422delTAGA ENST00000298717.4 - 11 1874_1877 c.1723_1726delTCTA c.(1723-1728)aafs p.SK575fs TOX4_ENST00000405508.1_3'UTR|TOX4_ENST00000262709.3_3'UTR NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 575 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) TTCTTAGGTTTAGAGATGATACCA 0.431 30 59 --- --- --- --- NOVA1-AS1 387977 broad.mit.edu 37 14 27136271 27136273 + RNA DEL ATC ATC - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr14:27136271_27136273delATC ENST00000552826.1 + 0 93 accaaatcttatcaACCCCTTTA 0.443 3 3 --- --- --- --- SRP54-AS1 100506157 broad.mit.edu 37 14 35448908 35448908 + RNA DEL A A - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr14:35448908delA ENST00000556355.1 - 0 23 RP11-85K15.2_ENST00000555015.1_RNA|RP11-85K15.2_ENST00000554945.1_RNA aaaaCACAGGAAAAAAAAAAT 0.408 2 4 --- --- --- --- LINC01579 283682 broad.mit.edu 37 15 94315788 94315789 + RNA INS - - A rs71861989 by1000genomes TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr15:94315788_94315789insA ENST00000557481.2 - 0 540 gactccttctcaaaaaaaaaag 0.485 2 4 --- --- --- --- CTD-3037G24.3 0 broad.mit.edu 37 16 12686627 12686627 + RNA DEL A A - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr16:12686627delA ENST00000564505.1 - 0 307 aaagatggggaaaaaaacagc 0.418 2 4 --- --- --- --- LIPE-AS1 100996307 broad.mit.edu 37 19 42904444 42904444 + RNA DEL C C - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr19:42904444delC ENST00000594624.2 + 0 51 LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA NR_073180.1 TTCTGTCCATCCCCCAGTGTC 0.592 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11083900 11083900 + RNA DEL A A - rs146094339 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr21:11083900delA 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) TTCCTAAGCTAAAAAAATACA 0.249 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11094409 11094409 + RNA DEL C C - rs61674188 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr21:11094409delC 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) TCTTAGCATGCAAAAATTATT 0.274 5 2 --- --- --- --- GGT3P 2679 broad.mit.edu 37 22 18771547 18771547 + RNA DEL G G - rs149629602 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr22:18771547delG ENST00000412448.1 - 0 834 TTTTTGttttgtttttttttt 0.433 4 3 --- --- --- --- RP1-76B20.11 0 broad.mit.edu 37 22 30114711 30114711 + RNA DEL C C - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr22:30114711delC ENST00000416352.1 - 0 312 RP1-76B20.11_ENST00000451180.1_RNA|RP1-76B20.12_ENST00000420180.1_RNA AAGTGCTGGGCCCAGGCTGAC 0.587 2 4 --- --- --- --- ISX-AS1 101926957 broad.mit.edu 37 22 35393173 35393174 + RNA INS - - GTGT rs56007365 by1000genomes TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr22:35393173_35393174insGTGT ENST00000448318.4 - 0 1184 TAGAAAAAGTCgtgtgtgtgtg 0.490 3 3 --- --- --- --- LINC01399 104310353 broad.mit.edu 37 22 35612521 35612522 + RNA INS - - AG TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr22:35612521_35612522insAG ENST00000423311.1 - 0 59 AAAAAAGGAAAAGAGAGAGAGA 0.441 2 4 --- --- --- --- RP3-439F8.1 0 broad.mit.edu 37 22 46939020 46939021 + RNA DEL TT TT - rs71757891 TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chr22:46939020_46939021delTT ENST00000426112.1 + 0 1440 ATTACTGttctttttttttttt 0.460 2 4 --- --- --- --- ASMTL-AS1 80161 broad.mit.edu 37 X 1521581 1521582 + RNA INS - - CT TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:1521581_1521582insCT ENST00000425740.2 + 0 415 ASMTL-AS1_ENST00000420411.2_RNA|ASMTL-AS1_ENST00000443929.1_RNA NR_026711.1 cervix(1)|endometrium(2)|lung(1) 4 GCTTCCTTCCCCCTCCCAAAAT 0.604 2 4 --- --- --- --- RP13-297E16.4 0 broad.mit.edu 37 X 1853964 1853977 + RNA DEL CCTCCTTCTTTCCC CCTCCTTCTTTCCC - TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68d7e90f-431f-45ce-a216-eaa3527b3297 f75ef88d-f98a-4b1a-a71a-848f4d3fe5af g.chrX:1853964_1853977delCCTCCTTCTTTCCC ENST00000427886.1 + 0 387 ttcttctcctcctccttctttccccctccttctt 0.528 3 4 --- --- --- ---