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 TUBB3 10381 broad.mit.edu 37 16 90001818 90001818 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:90001818G>A ENST00000304984.5 + 3 3038 c.743G>A c.(742-744)cGc>cAc p.R248H TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.R667H|TUBB3_ENST00000554444.1_Missense_Mutation_p.R248H|TUBB3_ENST00000315491.7_Missense_Mutation_p.R320H Q13509 TBB3_HUMAN tubulin, beta 3 class III 320 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) TTCCGGGGCCGCATGTCCATG 0.632000 6 630 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17313653 17313653 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:17313653G>A ENST00000452699.1 - 26 3145 c.2956C>T c.(2956-2958)Cgg>Tgg p.R986W ATP13A2_ENST00000341676.5_Missense_Mutation_p.R947W|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R991W NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 991 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CCCGGTGGCCGCACCCGTCCC 0.687000 4 151 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 9 414 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 7 1305 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4389022 4389022 + Silent SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:4389022C>T ENST00000408920.2 - 1 594 c.504G>A c.(502-504)ttG>ttA p.L168L NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCAGAAAGTCAATCTTTTTA 0.343000 11 360 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166930064 166930064 + Missense_Mutation SNP G G A rs139397227 byFrequency TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:166930064G>A ENST00000423058.2 - 1 85 c.68C>T c.(67-69)gCg>gTg p.A23V AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A23V|SCN1A_ENST00000375405.3_Missense_Mutation_p.A23V|SCN1A_ENST00000303395.4_Missense_Mutation_p.A23V|AC010127.3_ENST00000599041.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 23 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTCAATAGCCGCAAGAGATTC 0.423000 6 693 0 0 1 0 0 ABTB2 25841 broad.mit.edu 37 11 34226220 34226220 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:34226220C>T ENST00000435224.2 - 2 1325 c.901G>A c.(901-903)Gca>Aca p.A301T ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.A115T NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 115 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) CTGAAGTATGCGGGGAGGGAG 0.637000 4 144 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124761327 124761327 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:124761327G>A ENST00000306534.3 - 12 2301 c.1816C>T c.(1816-1818)Cgc>Tgc p.R606C ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C|RP11-664I21.6_ENST00000524433.1_5'UTR NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 606 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGTGGGAGGCGCCTGACAGCT 0.662000 12 176 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2041906 2041906 + Nonsense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr8:2041906C>T ENST00000262113.4 + 17 2254 c.2113C>T c.(2113-2115)Cag>Tag p.Q705* MYOM2_ENST00000523438.1_Nonsense_Mutation_p.Q130* NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 705 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CATAAAAGTGCAGGCCGCACT 0.488000 8 254 0 0 1 0 0 MLKL 197259 broad.mit.edu 37 16 74729301 74729301 + Missense_Mutation SNP C C G TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:74729301C>G ENST00000308807.7 - 2 818 c.355G>C c.(355-357)Gag>Cag p.E119Q MLKL_ENST00000306247.7_Missense_Mutation_p.E119Q NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 119 ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 ATGCGTTGCTCAACCTGAAGT 0.517000 18 485 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78922232 78922232 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr15:78922232C>T ENST00000261751.3 - 5 526 c.415G>A c.(415-417)Ggc>Agc p.G139S CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 139 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.G139C(1)|p.G139S(1) endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 AGGACGCTGCCGTTGGACCGG 0.572000 6 192 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13891148 13891148 + Silent SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr5:13891148C>T ENST00000265104.4 - 17 2618 c.2514G>A c.(2512-2514)acG>acA p.T838T CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 838 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) GACAAAGAGGCGTGCTGCTCA 0.408000 Kartagener syndrome 12 639 0 0 1 0 0 RP11-178C3.2 0 broad.mit.edu 37 17 58066651 58066651 + RNA SNP C C T rs144367363 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:58066651C>T ENST00000586209.1 + 0 158 ACTGGTAAAGCTGTTTAAGAG 0.333000 4 73 0 0 1 0 0 ATP5B 506 broad.mit.edu 37 12 57037309 57037309 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr12:57037309C>T ENST00000262030.3 - 5 720 c.670G>A c.(670-672)Gcc>Acc p.A224T ATP5B_ENST00000552919.1_Missense_Mutation_p.A224T NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 224 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism p.A224T(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGGGCTTTGGCGACATTGTTG 0.413000 5 398 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102825947 102825947 + RNA SNP A A G TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr7:102825947A>G ENST00000312132.4 - 0 3750 ACAGCTTGACACTTGCCATTG 0.373000 7 274 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53566769 53566769 + Silent SNP G G T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chrX:53566769G>T ENST00000342160.3 - 74 11938 c.11481C>A c.(11479-11481)tcC>tcA p.S3827S HUWE1_ENST00000262854.6_Silent_p.S3827S Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3827 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GGGTTCCATCGGAGGCTGGAG 0.502000 4 78 1.024e-07 1.05661e-07 1 1 0 SCN5A 6331 broad.mit.edu 37 3 38601865 38601865 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:38601865C>T ENST00000413689.1 - 23 4211 c.4018G>A c.(4018-4020)Gtc>Atc p.V1340I SCN5A_ENST00000333535.4_Missense_Mutation_p.V1340I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1340 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ATGAGGCAGACGAGGAGGACG 0.577000 8 180 0 0 1 0 0 TCP11 6954 broad.mit.edu 37 6 35088799 35088799 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr6:35088799C>T ENST00000311875.5 - 6 1058 c.641G>A c.(640-642)cGg>cAg p.R214Q TCP11_ENST00000444780.2_Missense_Mutation_p.R209Q|TCP11_ENST00000412155.2_Missense_Mutation_p.R163Q|TCP11_ENST00000373979.2_Missense_Mutation_p.R139Q|TCP11_ENST00000244645.3_Missense_Mutation_p.R139Q|TCP11_ENST00000512012.1_Missense_Mutation_p.R201Q|TCP11_ENST00000418521.2_Missense_Mutation_p.R138Q|TCP11_ENST00000373974.4_Missense_Mutation_p.R168Q Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 201 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 CATTTTCATCCGGCCCAGAAC 0.453000 24 562 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48494876 48494876 + Missense_Mutation SNP T T C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr7:48494876T>C ENST00000435803.1 + 43 12832 c.12808T>C c.(12808-12810)Ttt>Ctt p.F4270L ABCA13_ENST00000544596.1_Missense_Mutation_p.F30L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4270 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CGAGACCTACTTTTTCAGGTA 0.463000 7 71 0 0 1 0 0 PBLD 64081 broad.mit.edu 37 10 70056061 70056061 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr10:70056061G>A ENST00000358769.2 - 4 447 c.245C>T c.(244-246)gCc>gTc p.A82V PBLD_ENST00000309049.4_Missense_Mutation_p.A82V|PBLD_ENST00000336578.1_Missense_Mutation_p.A49V|PBLD_ENST00000277795.4_Intron|PBLD_ENST00000432941.1_Missense_Mutation_p.A82V NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing 82 biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 AGCCAGGGTGGCATGGCCACA 0.423000 5 200 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120801889 120801889 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr10:120801889G>A ENST00000369144.3 - 19 3270 c.3143C>T c.(3142-3144)cCg>cTg p.P1048L EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.P1014L NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1048 25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) TCCTCGCCTCGGCCCCCGGTC 0.607000 9 759 0 0 1 0 0 SHCBP1 79801 broad.mit.edu 37 16 46615801 46615801 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:46615801G>A ENST00000303383.3 - 13 2125 c.1859C>T c.(1858-1860)gCt>gTt p.A620V NM_024745.4 NP_079021.3 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 620 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) TGTGGAGGCAGCAATTAGTTC 0.438000 5 407 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80046303 80046303 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:80046303G>A ENST00000306749.2 - 16 2774 c.2556C>T c.(2554-2556)aaC>aaT p.N852N NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 852 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) AACCTGAACCGTTGGGGAAGT 0.667000 5 142 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 530 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414295 20414295 + Silent SNP G G A rs62637688 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr9:20414295G>A ENST00000380338.4 - 5 835 c.549C>T c.(547-549)agC>agT p.S183S MLLT3_ENST00000429426.2_Silent_p.S180S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 183 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.522000 T MLL ALL 5 371 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18301393 18301393 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr22:18301393C>T ENST00000441493.2 - 26 4386 c.4034G>A c.(4033-4035)cGc>cAc p.R1345H NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1345 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CCCCTTGCTGCGGTCCACAGG 0.632000 5 515 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 10 258 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACTATGTCGAAAAGTGTTT 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 171 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58318299 58318299 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr20:58318299G>A ENST00000371015.1 + 2 723 c.256G>A c.(256-258)Gaa>Aaa p.E86K PHACTR3_ENST00000541461.1_Missense_Mutation_p.E45K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E45K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E83K NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 86 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) AAAGAAAAACGAAAAACTGAA 0.577000 9 225 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30705431 30705431 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr8:30705431C>T ENST00000256246.2 - 1 1177 c.1103G>A c.(1102-1104)gGg>gAg p.G368E NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 368 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATTTATTTTCCCCAATTTCAG 0.383000 14 369 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 12 163 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13850192 13850192 + Silent SNP T T C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr20:13850192T>C ENST00000284951.5 - 14 1286 c.1212A>G c.(1210-1212)aaA>aaG p.K404K SEL1L2_ENST00000378072.5_Silent_p.K404K|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 404 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 CGGGCCACCCTTTTTCCGCAG 0.393000 4 272 0 0 1 0 0 SLC26A6 65010 broad.mit.edu 37 3 48667366 48667366 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:48667366C>T ENST00000358747.6 - 12 1655 c.1405G>A c.(1405-1407)Gac>Aac p.D469N SLC26A6_ENST00000383733.3_Missense_Mutation_p.D490N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D454N|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D383N|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D490N|SLC26A6_ENST00000395550.2_Missense_Mutation_p.D490N NM_001040454.1 NP_001035544.1 solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) AAGCCAAGGTCCAGGTTCAGC 0.607000 12 205 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101611304 101611304 + Silent SNP T T C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr10:101611304T>C ENST00000370449.4 + 32 4667 c.4554T>C c.(4552-4554)ccT>ccC p.P1518P NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1518 ABC transporter 2. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GCGGCAGCCCTGAAGAACTGC 0.448000 5 551 0 0 1 0 0 PDZD4 57595 broad.mit.edu 37 X 153069209 153069209 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chrX:153069209C>T ENST00000164640.4 - 8 2100 c.1909G>A c.(1909-1911)Gcc>Acc p.A637T PDZD4_ENST00000393758.2_Missense_Mutation_p.A562T|PDZD4_ENST00000544474.1_Missense_Mutation_p.A528T NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 637 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCCGCTTGGCCACGTAGCGG 0.701000 5 446 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145608249 145608249 + Nonsense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:145608249G>A ENST00000334163.3 - 4 608 c.448C>T c.(448-450)Cga>Tga p.R150* POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Nonsense_Mutation_p.R150* NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 150 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) TCTGCCAGTCGCACAAATGTG 0.498000 5 296 0 0 1 0 0 GDF7 151449 broad.mit.edu 37 2 20870689 20870689 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:20870689C>T ENST00000272224.3 + 2 1433 c.857C>T c.(856-858)gCc>gTc p.A286V NM_182828.2 NP_878248.2 Q7Z4P5 GDF7_HUMAN growth differentiation factor 7 286 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGATCCGCGCCCAGGCCCGC 0.736000 4 39 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 7 356 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119428733 119428733 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:119428733C>T ENST00000273390.5 + 5 568 c.491C>T c.(490-492)gCc>gTc p.A164V MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 GTTGTTTATGCCGTATCCAAG 0.328000 5 401 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128735 45128735 + RNA SNP T T C rs138973461 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:45128735T>C ENST00000575173.1 - 0 418 GAAATACTAATGATTTTTATT 0.323000 8 459 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97426885 97426885 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:97426885G>A ENST00000377075.2 + 1 247 c.149G>A c.(148-150)aGg>aAg p.R50K NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 50 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 GTGGGCATGAGGCTGGCGAGC 0.701000 7 152 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 6 421 0 0 1 0 0 TACC1 6867 broad.mit.edu 37 8 38677137 38677137 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr8:38677137G>A ENST00000379931.3 + 3 754 c.375G>A c.(373-375)caG>caA p.Q125Q TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000443286.2_Silent_p.Q141Q|TACC1_ENST00000317827.4_Silent_p.Q125Q|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Silent_p.Q89Q|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000518415.1_Silent_p.Q80Q O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 125 cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) TGCCACAGCAGGCCATTGACT 0.383000 10 366 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371196 240371196 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:240371196G>A ENST00000319653.9 + 5 3314 c.3084G>A c.(3082-3084)gcG>gcA p.A1028A NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1028 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TACCCGGAGCGGGCATACCCC 0.741000 4 127 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77354692 77354692 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr9:77354692G>A ENST00000451710.3 - 33 5683 c.5446C>T c.(5446-5448)Cgg>Tgg p.R1816W TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1812 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TGCCATGTCCGCACAACCTCA 0.488000 6 712 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518661 108518661 + Missense_Mutation SNP T T C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr13:108518661T>C ENST00000375915.2 - 1 422 c.284A>G c.(283-285)cAg>cGg p.Q95R NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 95 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ctgccgccgctgctgctgctg 0.731000 5 110 0 0 1 0 0 DET1 55070 broad.mit.edu 37 15 89074164 89074164 + Missense_Mutation SNP C C T rs138430376 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr15:89074164C>T ENST00000564406.1 - 3 966 c.806G>A c.(805-807)cGc>cAc p.R269H DET1_ENST00000444300.1_Missense_Mutation_p.R269H|DET1_ENST00000558413.1_3'UTR|DET1_ENST00000268148.8_Missense_Mutation_p.R258H NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 258 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) ATAGCAAAAGCGGCCAATGGT 0.507000 29 249 0 0 1 0 0 CTD-2207O23.3 0 broad.mit.edu 37 19 7523499 7523499 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:7523499G>A ENST00000593531.1 + 12 1592 c.1592G>A c.(1591-1593)cGg>cAg p.R531Q ARHGEF18_ENST00000319670.9_Silent_p.P415P|ARHGEF18_ENST00000359920.6_Silent_p.P573P TGCAAGGGCCGGAGATGTATG 0.562000 4 258 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466067 56466067 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:56466067G>A ENST00000291971.3 + 3 714 c.643G>A c.(643-645)Gga>Aga p.G215R NLRP8_ENST00000590542.1_Missense_Mutation_p.G215R NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 215 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCCTGGGATCGGAAAAACAAT 0.527000 11 294 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115070324 115070324 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr13:115070324G>A ENST00000375299.3 + 10 1419 c.1363G>A c.(1363-1365)Gga>Aga p.G455R UPF3A_ENST00000351487.5_Missense_Mutation_p.G422R|UPF3A_ENST00000475218.2_3'UTR NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 455 mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) AGAGTGTGGCGGAAACAGGAG 0.592000 4 284 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123780522 123780522 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr12:123780522G>A ENST00000420886.2 - 31 4114 c.4115C>T c.(4114-4116)gCg>gTg p.A1372V SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1372 ATP binding|DNA binding|hydrolase activity p.A1371V(2) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTGTTGGACCGCAAGCTGTTG 0.433000 10 910 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43783268 43783268 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:43783268C>T ENST00000372476.3 + 16 2733 c.2654C>T c.(2653-2655)gCg>gTg p.A885V TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 885 Protein kinase. 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) CGTGACTTTGCGGGAGAACTG 0.502000 7 949 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126732924 126732924 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:126732924G>A ENST00000393409.2 + 10 2375 c.2375G>A c.(2374-2376)gGc>gAc p.G792D PLXNA1_ENST00000251772.4_Missense_Mutation_p.G769D NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 792 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) GTGTGGAACGGCAACTTTGTC 0.632000 6 630 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43031337 43031337 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:43031337C>T ENST00000161559.6 - 2 414 c.280G>A c.(280-282)Gca>Aca p.A94T LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 94 Ig-like V-type. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) CCGCTGTTTGCGGGCCCTGGG 0.488000 7 1036 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102825946 102825946 + RNA SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr7:102825946C>T ENST00000312132.4 - 0 3751 GACAGCTTGACACTTGCCATT 0.373000 6 277 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 4 113 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372765 74372765 + RNA SNP T T C rs2549261 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:74372765T>C ENST00000429810.2 - 0 1431 GAAGTCCCAGTGGGGAACCTT 0.502000 5 158 0 0 1 0 0 RCOR1 23186 broad.mit.edu 37 14 103174893 103174893 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr14:103174893G>A ENST00000262241.6 + 6 978 c.752G>A c.(751-753)cGg>cAg p.R251Q RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 248 Interaction with HDAC1. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 CGCCATGCCCGGAAACAAAAA 0.463000 9 930 0 0 1 0 0 CGREF1 10669 broad.mit.edu 37 2 27324320 27324320 + Missense_Mutation SNP C C T rs111421729 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:27324320C>T ENST00000402394.1 - 6 1047 c.779G>A c.(778-780)gGg>gAg p.G260E CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G260E|CGREF1_ENST00000405600.1_Missense_Mutation_p.G260E|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G382E NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 258 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCCTGGCCCCCAGCTTCCCC 0.692000 5 434 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 5 382 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144895217 144895217 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr8:144895217G>A ENST00000356994.2 - 7 631 c.625C>T c.(625-627)Ctg>Ttg p.L209L SCRIB_ENST00000320476.3_Silent_p.L209L|SCRIB_ENST00000377533.3_Silent_p.L128L NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 209 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGTGCTGACAGCTGGTTCCGG 0.622000 3 22 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1046233 1046233 + Missense_Mutation SNP T T G TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:1046233T>G ENST00000263094.6 + 13 1681 c.1450T>G c.(1450-1452)Tgg>Ggg p.W484G ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 484 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCGCAGGTTTTGGGACCCTGG 0.642000 5 701 0 0 1 0 0 GALNT10 55568 broad.mit.edu 37 5 153760011 153760011 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr5:153760011G>A ENST00000297107.6 + 6 895 c.758G>A c.(757-759)cGc>cAc p.R253H GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 253 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TCTTCAGACCGCATTGCTCGG 0.502000 5 583 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 5 287 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179398331 179398331 + Missense_Mutation SNP G G T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:179398331G>T ENST00000589042.1 - 358 103235 c.103011C>A c.(103009-103011)aaC>aaA p.N34337K TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N25397K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N32696K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N25272K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N31769K|TTN_ENST00000342175.6_Missense_Mutation_p.N25464K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32696 Ig-like 152. 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) CACCATATTTGTTCCTTGCCA 0.413000 8 245 3.09899e-07 3.17744e-07 1 1 0 NSRP1 84081 broad.mit.edu 37 17 28511942 28511942 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:28511942G>A ENST00000247026.5 + 7 990 c.927G>A c.(925-927)acG>acA p.T309T NSRP1_ENST00000540900.3_3'UTR NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 309 His-rich. developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 GATCACGAACGTCGAGAGGAC 0.493000 12 205 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109808777 109808777 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:109808777C>T ENST00000271332.3 + 15 6023 c.5962C>T c.(5962-5964)Cgt>Tgt p.R1988C NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1988 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTGGTGGCCCCGTACCCGCTT 0.617000 15 324 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 7 266 0.0381472 0.0383842 1 1 0 ZNF513 130557 broad.mit.edu 37 2 27602967 27602967 + Missense_Mutation SNP G G T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:27602967G>T ENST00000323703.6 - 2 402 c.204C>A c.(202-204)gaC>gaA p.D68E ZNF513_ENST00000407879.1_Missense_Mutation_p.D6E NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 68 Gly-rich. regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCTTCCGAGTCTCTCTCGA 0.557000 34 888 3.90053e-15 4.07668e-15 1 1 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 4 103 0 0 1 0 0 HK1 3098 broad.mit.edu 37 10 71119706 71119706 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr10:71119706C>T ENST00000448642.2 + 8 774 c.385C>T c.(385-387)Cgg>Tgg p.R129W HK1_ENST00000404387.2_Missense_Mutation_p.R98W|HK1_ENST00000360289.2_Missense_Mutation_p.R82W|HK1_ENST00000298649.3_Missense_Mutation_p.R93W|HK1_ENST00000359426.6_Missense_Mutation_p.R94W|HK1_ENST00000494253.1_3'UTR P19367 HXK1_HUMAN hexokinase 1 94 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 TCGAATTCTGCGGGTGCAAGT 0.478000 6 437 0 0 1 0 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043725 26043725 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr6:26043725C>T ENST00000357905.2 - 1 160 c.161G>A c.(160-162)gGc>gAc p.G54D NM_021062.2 NP_066406.1 P33778 H2B1B_HUMAN histone cluster 1, H2bb 54 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GGATGAGATGCCGGTGTCGGG 0.547000 6 898 0 0 1 0 0 RBP1 5947 broad.mit.edu 37 3 139257784 139257784 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:139257784G>A ENST00000483943.2 - 2 277 c.277C>T c.(277-279)Cgc>Tgc p.R93C RBP1_ENST00000232219.2_Missense_Mutation_p.R93C|RBP1_ENST00000492918.1_Missense_Mutation_p.R93C|RP11-319G6.1_ENST00000515247.1_RNA NM_001130993.1 NP_001124465.1 P09455 RET1_HUMAN retinol binding protein 1, cellular 31 cytoplasm retinal binding|retinol binding|transporter activity endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 5 Vitamin A(DB00162) GCGATTTTGCGCAAGGCCACA 0.552000 5 459 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691501 153691501 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr4:153691501C>T ENST00000304337.2 - 2 1476 c.656G>A c.(655-657)gGc>gAc p.G219D NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 219 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) CATGTTTGTGCCAACCACCAG 0.383000 5 631 0 0 1 0 0 TRH 7200 broad.mit.edu 37 3 129695840 129695840 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:129695840G>A ENST00000302649.3 + 3 1037 c.510G>A c.(508-510)gaG>gaA p.E170E TRH_ENST00000507066.1_Silent_p.E166E NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 170 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity p.E170E(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 Gggaagaagaggaggaggagg 0.642000 4 261 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130493021 130493021 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr9:130493021G>A ENST00000373289.3 + 14 2039 c.1959G>A c.(1957-1959)acG>acA p.T653T TTC16_ENST00000489226.1_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 653 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 TGTTGAAGACGCAATCCTCGG 0.567000 4 192 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48593400 48593400 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr18:48593400G>A ENST00000342988.3 + 10 1689 c.1151G>A c.(1150-1152)gGc>gAc p.G384D SMAD4_ENST00000398417.2_Missense_Mutation_p.G384D|SMAD4_ENST00000588745.1_Missense_Mutation_p.G288D NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 384 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TTGCACATAGGCAAAGGTGTG 0.348000 22 353 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3888153 3888153 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:3888153G>A ENST00000319331.3 + 2 2589 c.1828G>A c.(1828-1830)Gta>Ata p.V610I SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 610 Fibronectin type-III. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) AAAGTCATGCGTAAATGTCAC 0.458000 5 495 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 5 114 0 0 1 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917415 48917415 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:48917415C>T ENST00000311378.4 + 2 1294 c.766C>T c.(766-768)Cgg>Tgg p.R256W WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R163W NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 256 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TGTGGTCATGCGGCCCAACCA 0.602000 5 283 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2160250 2160250 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:2160250C>T ENST00000262304.4 - 15 5126 c.4918G>A c.(4918-4920)Ggt>Agt p.G1640S PKD1_ENST00000423118.1_Missense_Mutation_p.G1640S NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1640 PKD 12. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TAGCGGCCACCGCCCACCACC 0.617000 21 174 0 0 1 0 0 ZNF584 201514 broad.mit.edu 37 19 58928643 58928643 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:58928643G>A ENST00000306910.4 + 4 1281 c.758G>A c.(757-759)cGc>cAc p.R253H ZNF584_ENST00000593920.1_Missense_Mutation_p.R208H|ZNF584_ENST00000599238.1_3'UTR NM_173548.1 NP_775819.1 Q8IVC4 ZN584_HUMAN zinc finger protein 584 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) ACCTTCAACCGCAAAGACGCA 0.463000 5 277 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17038840 17038840 + Nonsense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:17038840G>A ENST00000443236.1 - 25 3521 c.3490C>T c.(3490-3492)Cga>Tga p.R1164* NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1117 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GCGGTGGCTCGCTCAGACCCA 0.617000 8 291 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 6 812 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 9 195 0 0 1 0 0 PKP1 5317 broad.mit.edu 37 1 201252975 201252975 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:201252975G>A ENST00000263946.3 + 1 396 c.145G>A c.(145-147)Gtc>Atc p.V49I PKP1_ENST00000367324.3_Missense_Mutation_p.V49I|PKP1_ENST00000352845.3_Missense_Mutation_p.V49I NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 49 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 GATGATGACCGTCAAGCGGCA 0.612000 8 210 0 0 1 0 0 CCDC74A 90557 broad.mit.edu 37 2 132290319 132290319 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:132290319G>A ENST00000295171.6 + 5 979 c.841G>A c.(841-843)Gag>Aag p.E281K CCDC74A_ENST00000409856.3_Missense_Mutation_p.E215K|CCDC74A_ENST00000467992.2_3'UTR NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 281 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GCTCATCCGCGAGCTGTGGAA 0.677000 10 342 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 6 220 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282617 152282617 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:152282617G>A ENST00000368799.1 - 3 4780 c.4745C>T c.(4744-4746)gCg>gTg p.A1582V FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1582 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTGGACCCCGCTGATTCTCC 0.607000 Ichthyosis 6 892 0 0 1 0 0 SMEK1 55671 broad.mit.edu 37 14 91931722 91931722 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr14:91931722C>T ENST00000554684.1 - 11 2159 c.1663G>A c.(1663-1665)Gag>Aag p.E555K SMEK1_ENST00000337238.4_Missense_Mutation_p.E555K|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000428424.2_Missense_Mutation_p.E329K|SMEK1_ENST00000555462.1_Missense_Mutation_p.E329K|SMEK1_ENST00000554943.1_Missense_Mutation_p.E568K Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 (Dictyostelium) 568 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1) 6 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) TTGTAAAACTCATCTTTTAAT 0.358000 10 292 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52272573 52272573 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:52272573G>A ENST00000354831.7 - 20 2396 c.2207C>T c.(2206-2208)aCg>aTg p.T736M NRD1_ENST00000352171.7_Missense_Mutation_p.T668M|NRD1_ENST00000544028.1_Missense_Mutation_p.T536M|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M|NRD1_ENST00000485608.1_5'UTR NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 667 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 AGCCTTCAACGTAAAGTCCGT 0.373000 6 500 0 0 1 0 0 FAM102A 399665 broad.mit.edu 37 9 130712784 130712784 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr9:130712784G>A ENST00000373095.1 - 4 707 c.332C>T c.(331-333)gCg>gTg p.A111V FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_5'UTR NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A 111 breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 GCCCGAGCCCGCAAACTCGGC 0.632000 7 315 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39735383 39735383 + Silent SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr12:39735383C>T ENST00000395670.3 - 14 2264 c.1845G>A c.(1843-1845)gaG>gaA p.E615E KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E Q7Z4S6 KI21A_HUMAN kinesin family member 21A 615 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.E602D(1)|p.E602E(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) cctcctcctcctcttcttcat 0.398000 4 153 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 16 333 0 0 1 0 0 THOC1 9984 broad.mit.edu 37 18 264052 264052 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr18:264052G>A ENST00000261600.6 - 4 237 c.230C>T c.(229-231)tCt>tTt p.S77F THOC1_ENST00000582313.1_5'UTR NM_005131.2 NP_005122.2 Q96FV9 THOC1_HUMAN THO complex 1 77 apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex DNA binding|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 20 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) AATAGCAAGAGAAATAATAGC 0.343000 4 101 0 0 1 0 0 TMEM180 79847 broad.mit.edu 37 10 104235646 104235646 + Missense_Mutation SNP T T C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr10:104235646T>C ENST00000238936.4 + 10 1696 c.1459T>C c.(1459-1461)Tcc>Ccc p.S487P TMEM180_ENST00000366277.2_Missense_Mutation_p.S216P NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 487 integral to membrane breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CTTCACCTGGTCCCAGTTCAC 0.627000 4 146 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39624518 39624518 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr8:39624518G>A ENST00000265708.4 - 14 1459 c.1356C>T c.(1354-1356)tgC>tgT p.C452C ADAM2_ENST00000347580.4_Silent_p.C433C|ADAM2_ENST00000379853.2_Silent_p.C326C|ADAM2_ENST00000521880.1_Silent_p.C452C NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 452 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CAGGGAGGTCGCATTCTTCAA 0.398000 7 607 0 0 1 0 0 YTHDC1 91746 broad.mit.edu 37 4 69202911 69202911 + Silent SNP T T C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr4:69202911T>C ENST00000344157.4 - 4 1052 c.717A>G c.(715-717)gaA>gaG p.E239E YTHDC1_ENST00000355665.3_Silent_p.E239E|YTHDC1_ENST00000579690.1_Silent_p.E239E NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 239 Glu-rich. NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 cctcctcctcttcctcctcct 0.473000 5 135 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24993374 24993374 + Missense_Mutation SNP C C A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:24993374C>A ENST00000323848.9 + 13 2012 c.1697C>A c.(1696-1698)cCt>cAt p.P566H SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 566 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding p.P566H(2) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCCGCCCCTCCTCCTCGACGG 0.542000 4 198 0.000602214 0.000609742 1 1 0 NOA1 84273 broad.mit.edu 37 4 57829747 57829747 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr4:57829747G>A ENST00000264230.4 - 7 3203 c.1966C>T c.(1966-1968)Cgg>Tgg p.R656W NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 656 GTP binding AGAGGGGGCCGGACGGTCAAA 0.458000 5 525 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248309257 248309257 + Nonsense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:248309257C>T ENST00000366476.1 + 1 808 c.808C>T c.(808-810)Cag>Tag p.Q270* NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CTCCCCTATGCAGGACAAGCT 0.512000 21 879 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371685 109371685 + Missense_Mutation SNP A A T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:109371685A>T ENST00000283195.6 + 17 2562 c.2436A>T c.(2434-2436)aaA>aaT p.K812N NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 812 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTTTACTGAAAATGATTTGCC 0.348000 9 893 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72398976 72398976 + Missense_Mutation SNP A A G rs147859349 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr7:72398976A>G ENST00000395270.1 + 7 1322 c.281A>G c.(280-282)aAt>aGt p.N94S POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 359 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTGGTGGCCAATGGAGTCCCC 0.468000 6 1152 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 5 195 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075521 76075521 + RNA SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr15:76075521G>A ENST00000395215.3 + 0 1161 gagaggctgcgaaagcaggaa 0.607000 6 905 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44892133 44892133 + Missense_Mutation SNP C C T rs140033872 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:44892133C>T ENST00000330997.4 - 4 338 c.274G>A c.(274-276)Gtg>Atg p.V92M CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 TGAAGGTTCACGATATAATCC 0.418000 8 571 0 0 1 0 0 BEX4 56271 broad.mit.edu 37 X 102471391 102471391 + Missense_Mutation SNP C C T rs139178618 byFrequency TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chrX:102471391C>T ENST00000372695.5 + 3 545 c.310C>T c.(310-312)Cgc>Tgc p.R104C BEX4_ENST00000372691.3_Missense_Mutation_p.R104C NM_001080425.3 NP_001073894.1 Q9NWD9 BEX4_HUMAN brain expressed, X-linked 4 104 cytoplasm|nucleus endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 9 GCACTATATGCGCTTCCAAAC 0.418000 19 564 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19680556 19680556 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:19680556C>T ENST00000438132.3 + 27 2611 c.2563C>T c.(2563-2565)Cgg>Tgg p.R855W C16orf62_ENST00000542263.1_Missense_Mutation_p.R762W|C16orf62_ENST00000448695.1_Missense_Mutation_p.R616W|C16orf62_ENST00000417362.2_Missense_Mutation_p.R673W|C16orf62_ENST00000543152.1_Missense_Mutation_p.R515W|C16orf62_ENST00000251143.5_Missense_Mutation_p.R766W NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 766 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TGGGAAGATGCGGCCATCGGA 0.418000 5 297 0 0 1 0 0 TICAM1 148022 broad.mit.edu 37 19 4816396 4816396 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:4816396G>A ENST00000248244.5 - 2 2223 c.1994C>T c.(1993-1995)aCg>aTg p.T665M NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 665 Pro-rich.|Sufficient to induce apoptosis. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGGTGAGGCCGTAGGGAAGGC 0.662000 5 205 0 0 1 0 0 DPAGT1 1798 broad.mit.edu 37 11 118971495 118971495 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:118971495G>A ENST00000409993.2 - 5 1892 c.341C>T c.(340-342)gCg>gTg p.A114V DPAGT1_ENST00000354202.4_Missense_Mutation_p.A114V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V|DPAGT1_ENST00000445653.1_5'UTR Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 114 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) TACATCATCCGCAAAGCCCAG 0.567000 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 185 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435396 158435396 + Silent SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:158435396C>T ENST00000289451.2 + 1 125 c.45C>T c.(43-45)ctC>ctT p.L15L NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TCGTCGTCCTCGGCTTCTCAT 0.507000 12 231 0 0 1 0 0 KRT24 192666 broad.mit.edu 37 17 38859689 38859689 + Missense_Mutation SNP C C A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:38859689C>A ENST00000264651.2 - 1 313 c.257G>T c.(256-258)gGa>gTa p.G86V NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 86 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) CCCACCAAATCCTGTCCCAGA 0.582000 17 511 1.56452e-12 1.6247e-12 1 1 0 TPD52 7163 broad.mit.edu 37 8 80954871 80954871 + Missense_Mutation SNP T T G TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr8:80954871T>G ENST00000379096.5 - 5 533 c.419A>C c.(418-420)aAg>aCg p.K140T TPD52_ENST00000519303.2_Missense_Mutation_p.K16T|TPD52_ENST00000520527.1_Missense_Mutation_p.K203T|TPD52_ENST00000518937.1_Missense_Mutation_p.K163T|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000517427.1_Missense_Mutation_p.K189T|TPD52_ENST00000537855.1_Missense_Mutation_p.K180T|TPD52_ENST00000379097.3_Missense_Mutation_p.K180T|TPD52_ENST00000448733.2_Missense_Mutation_p.K194T NM_005079.2 NP_005070.1 P55327 TPD52_HUMAN tumor protein D52 180 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) GTTTTCGACCTTTTCTTCAAA 0.308000 11 274 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103434632 103434632 + Missense_Mutation SNP C C A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr14:103434632C>A ENST00000361246.2 - 16 2592 c.2304G>T c.(2302-2304)atG>atT p.M768I NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 768 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CATCAAACAGCATCGCTCTTT 0.368000 7 411 2.0095e-06 2.04741e-06 1 1 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 6 963 0 0 1 0 0 ATXN7 6314 broad.mit.edu 37 3 63973881 63973881 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:63973881G>A ENST00000398590.3 + 9 1795 c.1242G>A c.(1240-1242)ccG>ccA p.P414P ATXN7_ENST00000538065.1_Silent_p.P414P|ATXN7_ENST00000487717.1_Silent_p.P414P|ATXN7_ENST00000484332.1_Silent_p.P269P|ATXN7_ENST00000295900.6_Silent_p.P414P NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 414 Pro-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) TCAGGGACCCGCATCCCGCCC 0.512000 6 805 0 0 1 0 0 CCND2 894 broad.mit.edu 37 12 4387932 4387932 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr12:4387932G>A ENST00000261254.3 + 3 687 c.418G>A c.(418-420)Gaa>Aaa p.E140K NM_001759.3 NP_001750.1 P30279 CCND2_HUMAN cyclin D2 140 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) CCAGGAGTGGGAACTGGTGGT 0.562000 T IGL@ """NHL,CLL""" 8 338 0 0 1 0 0 TGFBR1 7046 broad.mit.edu 37 9 101911492 101911492 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr9:101911492G>A ENST00000374994.4 + 9 1534 c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K TGFBR1_ENST00000552516.1_Missense_Mutation_p.E477K|TGFBR1_ENST00000374990.2_Missense_Mutation_p.E396K|TGFBR1_ENST00000550253.1_Missense_Mutation_p.E404K NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 473 Protein kinase. activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) AATTATGAGAGAATGTTGGTA 0.348000 10 177 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98188534 98188534 + Silent SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:98188534C>T ENST00000332650.5 + 1 211 c.114C>T c.(112-114)acC>acT p.T38T NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T38T(2) breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATCTGATCACCGTGGTGGGGA 0.433000 21 736 0 0 1 0 0 SEMA4F 10505 broad.mit.edu 37 2 74906803 74906803 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:74906803G>A ENST00000357877.2 + 14 1929 c.1780G>A c.(1780-1782)Gca>Aca p.A594T SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.A439T NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 594 Ig-like C2-type. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 CTCAGCATGGGCATCCTGTGT 0.597000 6 581 0 0 1 0 0 RHOC 389 broad.mit.edu 37 1 113244218 113244218 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:113244218G>A ENST00000285735.2 - 6 1735 c.526C>T c.(526-528)Cgg>Tgg p.R176W RHOC_ENST00000339083.7_Missense_Mutation_p.R176W|RHOC_ENST00000369632.2_Missense_Mutation_p.R176W|RHOC_ENST00000369636.2_Silent_p.L155L|RHOC_ENST00000369637.1_Missense_Mutation_p.R176W|RHOC_ENST00000369638.2_Missense_Mutation_p.R176W|RHOC_ENST00000369633.2_Missense_Mutation_p.R176W|RHOC_ENST00000369642.3_Missense_Mutation_p.R176W P08134 RHOC_HUMAN ras homolog family member C 176 axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 9 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGGCCAGCCCGAGTGGCCATC 0.617000 22 396 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508683 106508683 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr7:106508683G>A ENST00000359195.3 + 2 987 c.677G>A c.(676-678)cGc>cAc p.R226H PIK3CG_ENST00000440650.2_Missense_Mutation_p.R226H|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R226H NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 226 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GTCATTCACCGCAGCACCACC 0.572000 5 475 0 0 1 0 0 MTM1 4534 broad.mit.edu 37 X 149832023 149832023 + Missense_Mutation SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chrX:149832023C>T ENST00000370396.2 + 14 1639 c.1585C>T c.(1585-1587)Cgt>Tgt p.R529C MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R414C|MTM1_ENST00000413012.2_Missense_Mutation_p.R492C NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 529 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) TGCCAGTATGCGTCACTTGGA 0.358000 6 720 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128941276 128941276 + Silent SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr2:128941276G>A ENST00000375990.3 + 38 4603 c.4200G>A c.(4198-4200)aaG>aaA p.K1400K UGGT1_ENST00000259253.6_Silent_p.K1424K Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 1424 Glucosyltransferase (By similarity). 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ATCTGAAGAAGTTTAGGAAAA 0.423000 5 177 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 10 197 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46559723 46559723 + Missense_Mutation SNP G G A TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr13:46559723G>A ENST00000242848.4 - 10 1777 c.1429C>T c.(1429-1431)Cgg>Tgg p.R477W ZC3H13_ENST00000282007.3_Missense_Mutation_p.R477W Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 477 Arg/Ser-rich. nucleic acid binding|zinc ion binding p.R477W(1) cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CTTGAGTCCCGCATGTCTCTG 0.527000 5 710 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) 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) ACCCACACCTTCTGCAACTAC 0.522000 5 447 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 272 --- --- --- --- TMEM57 55219 broad.mit.edu 37 1 25775375 25775375 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:25775375delT ENST00000374343.4 + 3 478 c.299delT c.(298-300)ctfs p.L100fs TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Frame_Shift_Del_p.L100fs NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 100 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) ATACAGTGGCTTTTTTTTGCT 0.343 9 461 --- --- --- --- MAP7D1 55700 broad.mit.edu 37 1 36636626 36636626 + Frame_Shift_Del DEL C C - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:36636626delC ENST00000316156.4 + 2 554 c.101delC c.(100-102)tcfs p.S34fs MAP7D1_ENST00000373151.2_Frame_Shift_Del_p.S34fs|MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.S34fs Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 34 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GGTGACCCTTCCCCCCCACCA 0.597 7 458 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 7 685 --- --- --- --- PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 7 596 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142699961 142699961 + RNA DEL T T - rs74315780 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:142699961delT ENST00000369381.2 - 0 2077 tatatatatatatatCCAAAA 0.259 2 4 --- --- --- --- BCAN 63827 broad.mit.edu 37 1 156626160 156626160 + Frame_Shift_Del DEL G G - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr1:156626160delG ENST00000329117.4 + 9 2365 c.2029delG c.(2029-2031)ggfs p.G678fs RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 678 EGF-like. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCTGGCTATGGGGGGGACCT 0.622 7 633 --- --- --- --- CDC25A 993 broad.mit.edu 37 3 48200922 48200923 + Frame_Shift_Del DEL TC TC - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:48200922_48200923delTC ENST00000302506.3 - 14 1753_1754 c.1345_1346delGA c.(1345-1347)tfs p.D449fs CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 449 Rhodanese. cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) ACCCAGGCGATCTCTCTCTCTC 0.515 7 402 --- --- --- --- MAPKAPK3 7867 broad.mit.edu 37 3 50655079 50655080 + Frame_Shift_Ins INS - - G TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:50655079_50655080insG ENST00000446044.1 + 4 679_680 c.83_84insG c.(82-84)cggfs p.R28fs MAPKAPK3_ENST00000357955.2_Frame_Shift_Ins_p.R28fs NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 28 P -> S (in a glioblastoma multiforme sample; somatic mutation). activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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 serine/threonine kinase activity p.R31fs*47(1) central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) GGCGGTGCTCCGGGGGGGCGGC 0.698 7 498 --- --- --- --- RP11-103G8.2 0 broad.mit.edu 37 3 150421899 150421900 + RNA INS - - C rs34009900 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:150421899_150421900insC ENST00000475393.1 + 0 20 RP11-103G8.2_ENST00000471093.1_RNA TTCTGTCCCTGCTCTTCAGCGT 0.545 12 13 --- --- --- --- P2RY13 53829 broad.mit.edu 37 3 151046142 151046142 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr3:151046142delT ENST00000325602.5 - 2 721 c.702delA c.(700-702)aafs p.K234fs MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_176894.2 NP_795713.2 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 234 integral to membrane|plasma membrane biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) AATCATATACTTTTTTTGCAA 0.338 9 332 --- --- --- --- HAUS3 79441 broad.mit.edu 37 4 2242634 2242634 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr4:2242634delT ENST00000243706.4 - 2 269 c.40delA c.(40-42)ttfs p.I14fs HAUS3_ENST00000506763.1_Frame_Shift_Del_p.I14fs|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Frame_Shift_Del_p.I14fs NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 14 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GGATAACCAATTTTTTTTAAT 0.353 7 521 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 9 300 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000437304.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 650 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATGAggtggcggtggtggtggtg 0.522 7 316 --- --- --- --- RP11-1023L17.1 0 broad.mit.edu 37 5 34182623 34182624 + RNA INS - - A rs79699565 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr5:34182623_34182624insA ENST00000514048.1 - 0 231 aataaataaataaaaaatCTGG 0.436 5 7 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801633 137801635 + In_Frame_Del DEL CAG CAG - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr5:137801633_137801635delCAG ENST00000239938.4 + 1 455_457 c.183_185delCAG c.(181-186)aac>aa p.NS61del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 61 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.700 7 225 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr6:7393450_7393452delGAC ENST00000379834.2 + 2 697_699 c.190_192delGAC c.(190-192)del p.D69del NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 69 ATP binding|protein serine/threonine kinase activity p.D57G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ggagggttatgacgatgatgatg 0.433 8 307 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 102 Poly-Gln. cytoplasm|cytoskeleton actin binding p.Q100Q(1) CCGTtgttgttgctgctgctgct 0.650 13 248 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 9 764 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 8 38 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45390446 45390448 + In_Frame_Del DEL CAG CAG - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr6:45390446_45390448delCAG ENST00000371438.1 + 2 533_535 c.175_177delCAG c.(175-177)del p.Q71del RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcaacagcagcagcagc 0.729 9 131 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129959602 129959603 + Frame_Shift_Ins INS - - T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr6:129959602_129959603insT ENST00000368149.2 - 3 576_577 c.488_489insA c.(487-489)aaafs p.K163fs NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 163 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) GGTACTGTTTGTTTTTTTTCCT 0.421 7 816 --- --- --- --- PDIA4 9601 broad.mit.edu 37 7 148702234 148702234 + Splice_Site DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr7:148702234delT ENST00000286091.4 - 9 1753 c.1522_splice c.e9+1 p.K507_splice NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 507 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CGGGCTCACCTTTTTTGAAAG 0.612 7 806 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 7 906 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20413952 20413952 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr9:20413952delT ENST00000380338.4 - 5 1178 c.892delA c.(892-894)ggfs p.R298fs MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) CTCTTTTTCCTTTTTTTGGCT 0.393 T MLL ALL 9 668 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 9 14 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 8 200 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 9 1079 --- --- --- --- INTS5 80789 broad.mit.edu 37 11 62416219 62416221 + In_Frame_Del DEL GCA GCA - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:62416219_62416221delGCA ENST00000330574.2 - 2 1383_1385 c.1331_1333delTGC c.(1330-1335)cac>c p.LH444del NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 444 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 TTTTGCAGGTGCAGCAGCAGCAG 0.621 7 320 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525788 63525788 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:63525788delT ENST00000354497.4 + 4 634 c.570delT c.(568-570)gcfs p.A190fs RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000339997.4_3'UTR NM_001265591.1 NP_001252520.1 O95197 RTN3_HUMAN reticulon 3 0 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CATTCCAAGCTTTTTTTTTAA 0.348 9 271 --- --- --- --- MTL5 9633 broad.mit.edu 37 11 68480836 68480836 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:68480836delT ENST00000255087.5 - 8 1243 c.1060delA c.(1060-1062)ttfs p.I354fs NM_004923.3 NP_004914.2 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 354 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) CCCTTCCCAATTTTTGGCTGG 0.473 7 1585 --- --- --- --- C1QTNF5 114902 broad.mit.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr11:119210189_119210190insC ENST00000445041.2 - 15 3378_3379 c.583_584insG c.(583-585)catfs p.H195fs C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|C1QTNF5_ENST00000525657.1_5'UTR|MFRP_ENST00000530681.1_3'UTR|MFRP_ENST00000555262.1_3'UTR NM_001278431.1|NM_015645.3|NM_031433.2 NP_001265360.1|NP_056460.1|NP_113621.1 Q9BY79 MFRP_HUMAN C1q and tumor necrosis factor related protein 5 147 CUB 1. embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CCTCACCATGGCCCCCCCCGAG 0.589 11 405 --- --- --- --- SLCO1B3 28234 broad.mit.edu 37 12 21028267 21028267 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr12:21028267delT ENST00000381545.3 + 9 1045 c.826delT c.(826-828)ttfs p.F278fs SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 278 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) TTCCATACCATTTTTTTTCTT 0.363 9 478 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 10 965 --- --- --- --- E2F7 144455 broad.mit.edu 37 12 77449827 77449827 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr12:77449827delT ENST00000322886.7 - 3 412 c.177delA c.(175-177)aafs p.K59fs E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 59 cell cycle transcription factor complex DNA binding|identical protein binding p.K59fs*29(2) central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 CTGGAGTAAATTTTTTTTGCT 0.363 9 501 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 8 939 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635045 100635045 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr13:100635045delT ENST00000376335.3 + 1 1020 c.727delT c.(727-729)ttfs p.F244fs NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 244 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity). brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ccCCGGTGCCTTTTTCCGCTA 0.562 7 391 --- --- --- --- EML1 2009 broad.mit.edu 37 14 100367334 100367334 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr14:100367334delT ENST00000262233.6 + 9 1105 c.966delT c.(964-966)ggfs p.G322fs EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs|EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 322 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TTGGAATAGGTTTTTTTGACC 0.428 7 634 --- --- --- --- YY1 7528 broad.mit.edu 37 14 100705708 100705710 + In_Frame_Del DEL GAG GAG - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr14:100705708_100705710delGAG ENST00000262238.4 + 1 387_389 c.127_129delGAG c.(127-129)del p.E47del NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 47 Asp/Glu-rich (acidic). cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.E43delE(1) cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) AGTggtgggcgaggaggaggagg 0.719 7 75 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 10 633 --- --- --- --- FAM63B 54629 broad.mit.edu 37 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr15:59144132_59144134delGCT ENST00000559228.1 + 8 1787_1789 c.1705_1707delGCT c.(1705-1707)del p.A574del FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 574 Gln-rich. central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 ACAAGCAGCAGCTGCTGCTGCTG 0.468 8 464 --- --- --- --- NOX5 79400 broad.mit.edu 37 15 69328208 69328210 + In_Frame_Del DEL CTG CTG - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr15:69328208_69328210delCTG ENST00000260364.5 + 8 1367_1369 c.1066_1068delCTG c.(1066-1068)del p.L362del NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 380 Ferric oxidoreductase. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 AGGTGTCGCTCTGCTGCTGCTGC 0.626 8 804 --- --- --- --- C16orf62 57020 broad.mit.edu 37 16 19580800 19580802 + In_Frame_Del DEL TCC TCC - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:19580800_19580802delTCC ENST00000438132.3 + 3 487_489 c.439_441delTCC c.(439-441)del p.S153del C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 64 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TTCTTCCACGTCCTCCTCCTCCT 0.562 7 214 --- --- --- --- ITGAL 0 broad.mit.edu 37 16 30531249 30531251 + In_Frame_Del DEL GCT GCT - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:30531249_30531251delGCT ENST00000356798.6 + 30 3480_3482 c.3300_3302delGCT c.(3298-3303)ggg>gg p.GL1100del ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del|ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1100 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCATCGGGGGGCTGCTGCTGCTG 0.601 13 950 --- --- --- --- BCL7C 9274 broad.mit.edu 37 16 30899223 30899223 + Frame_Shift_Del DEL G G - rs150838242 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:30899223delG ENST00000215115.4 - 6 1632 c.617delC c.(616-618)cafs p.P206fs AC106782.20_ENST00000572471.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000565573.1_RNA|MIR4519_ENST00000570025.1_RNA NM_004765.2 NP_004756.2 Q8WUZ0 BCL7C_HUMAN B-cell CLL/lymphoma 7C 206 Pro-rich. apoptosis large_intestine(1)|lung(3)|prostate(1)|skin(1) 6 Colorectal(24;0.198) GCGCTTGAGTGGGGGGGCACC 0.622 9 774 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 8 637 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 9 321 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 71220808 71220808 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr16:71220808delT ENST00000538248.1 - 2 106 c.72delA c.(70-72)aafs p.K24fs HYDIN_ENST00000393567.2_5'UTR|HYDIN_ENST00000393550.2_5'UTR|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000541601.1_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000288168.10_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000448089.2_5'UTR|HYDIN_ENST00000448691.1_5'UTR NM_001198542.1 NP_001185471.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 0 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTTTTAGTAATTTTTTTTTCT 0.333 7 412 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 10 1039 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 16 1098 --- --- --- --- PLCD3 113026 broad.mit.edu 37 17 43192760 43192762 + In_Frame_Del DEL TCC TCC - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr17:43192760_43192762delTCC ENST00000322765.5 - 9 1622_1624 c.1509_1511delGGA c.(1507-1512)gat>ga p.ED503del PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 503 intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.E503D(2) breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) ctcctcgtcatcctcctcctcct 0.670 7 92 --- --- --- --- WBP11P1 0 broad.mit.edu 37 18 30091782 30091782 + RNA DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr18:30091782delT ENST00000567636.1 + 0 157 NR_003558.1 tttctttttctttttttttAA 0.418 8 239 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000423698.2_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 8 505 --- --- --- --- GLTSCR1 29998 broad.mit.edu 37 19 48197891 48197891 + Frame_Shift_Del DEL C C - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr19:48197891delC ENST00000396720.3 + 8 2997 c.2803delC c.(2803-2805)ccfs p.P940fs CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 940 Poly-Pro. protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GCCGGCAGCACCCCCCCCACC 0.672 11 167 --- --- --- --- C20orf194 25943 broad.mit.edu 37 20 3235916 3235916 + Frame_Shift_Del DEL T T - rs2281496 by1000genomes TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr20:3235916delT ENST00000252032.9 - 35 3343 c.3276delA c.(3274-3276)aafs p.K1092fs C20orf194_ENST00000453730.2_3'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 1092 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TCTTCAGGGCTTTCCTCTGAG 0.612 2 4 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989772 47989772 + Frame_Shift_Del DEL G G - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr20:47989772delG ENST00000371741.4 - 2 2491 c.2325delC c.(2323-2325)ccfs p.P775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGAGGCTTTTGGGGGGGCTGG 0.547 7 1635 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 7 598 --- --- --- --- SMPD4P1 0 broad.mit.edu 37 22 20976583 20976584 + RNA INS - - A rs71660558 TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chr22:20976583_20976584insA ENST00000443839.1 - 0 1539 agactttgcctaaaaaaaaaaa 0.520 3 3 --- --- --- --- RAI2 10742 broad.mit.edu 37 X 17818550 17818550 + Frame_Shift_Del DEL A A - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chrX:17818550delA ENST00000545871.1 - 3 2041 c.1581delT c.(1579-1581)ttfs p.F527fs RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 527 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) ACTTTCTTGGAAAAAAGGTGG 0.333 7 2140 --- --- --- --- NAP1L3 4675 broad.mit.edu 37 X 92928153 92928155 + In_Frame_Del DEL TGC TGC - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chrX:92928153_92928155delTGC ENST00000373079.3 - 1 412_414 c.149_151delGCA c.(148-153)act>a p.ST50del NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 50 Ser-rich. nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 ctgccactagtgctgctgctgct 0.586 9 195 --- --- --- --- AMOT 154796 broad.mit.edu 37 X 112058783 112058785 + In_Frame_Del DEL GCT GCT - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chrX:112058783_112058785delGCT ENST00000371959.3 - 2 1192_1194 c.1193_1195delAGC c.(1192-1197)cca>c p.QP398del AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_In_Frame_Del_p.QP166del|AMOT_ENST00000371962.1_In_Frame_Del_p.QP166del|AMOT_ENST00000524145.1_In_Frame_Del_p.QP398del NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 398 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 tgctgctgtggctgctgctgctg 0.562 9 253 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994114 140994116 + In_Frame_Del DEL CTC CTC - rs141900922 byFrequency TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chrX:140994114_140994116delCTC ENST00000285879.4 + 4 1210_1212 c.924_926delCTC c.(922-927)agc>ag p.SS312del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 312 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.483 HNSCC(15;0.026) 7 1581 --- --- --- --- SPANXN2 494119 broad.mit.edu 37 X 142803692 142803692 + Frame_Shift_Del DEL T T - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 672b821b-fc2b-4b1f-955d-93cfec7be541 d254b381-9cf2-480d-a681-ad441818a4dc g.chrX:142803692delT ENST00000370498.1 - 1 824 c.71delA c.(70-72)atfs p.N24fs NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 24 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.443 12 919 --- --- --- ---