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 HSD17B13 345275 broad.mit.edu 37 4 88243945 88243945 + Missense_Mutation SNP A A G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr4:88243945A>G ENST00000328546.4 - 1 113 c.49T>C c.(49-51)Tcc>Ccc p.S17P HSD17B13_ENST00000302219.6_Missense_Mutation_p.S17P|RP11-529H2.2_ENST00000508163.1_RNA NM_178135.3 NP_835236.2 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 17 extracellular region binding|oxidoreductase activity endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) TCCAAGTAGGAGTAGATGATG 0.468000 41 178 0 0 1 0 0 SYT5 6861 broad.mit.edu 37 19 55690401 55690401 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:55690401C>T ENST00000590851.1 - 1 357 c.173G>A c.(172-174)cGg>cAg p.R58Q SYT5_ENST00000354308.3_Silent_p.P3P|SYT5_ENST00000537500.1_Silent_p.P3P O00445 SYT5_HUMAN synaptotagmin V 0 energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) TTGGGGGCTCCGGGAACATGG 0.677000 5 49 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24959236 24959236 + Missense_Mutation SNP T T G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr10:24959236T>G ENST00000396432.2 - 3 640 c.154A>C c.(154-156)Acg>Ccg p.T52P NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 51 PDZ. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 CTTTTCAACGTAACTGTTTTG 0.343000 20 321 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161006101 161006101 + Silent SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:161006101C>T ENST00000447678.1 - 27 4386 c.4266G>A c.(4264-4266)agG>agA p.R1422R LPA_ENST00000316300.5_Silent_p.R1422R NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3930 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.R1422S(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ATAATGGGATCCTCCGATGCC 0.443000 288 547 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187510158 187510158 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr4:187510158G>A ENST00000441802.2 - 27 13564 c.13355C>T c.(13354-13356)cCg>cTg p.P4452L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4452 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GAATTCGGGCGGTAACGGTGG 0.537000 HNSCC(5;0.00058) 7 1127 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120057235 120057235 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:120057235G>A ENST00000235547.6 + 4 1234 c.1095G>A c.(1093-1095)cgG>cgA p.R365R HSD3B1_ENST00000369413.3_Silent_p.R363R|HSD3B1_ENST00000528909.1_Silent_p.R363R NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 363 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) TTGTGGACCGGCACAAGGAGA 0.517000 4 154 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 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 8 1546 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52534277 52534277 + Nonsense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:52534277G>A ENST00000261839.7 - 20 2685 c.2524C>T c.(2524-2526)Cga>Tga p.R842* MYO5C_ENST00000443683.2_Intron NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 842 IQ 4. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) AGGAATCCTCGGCTGTAGGCC 0.542000 338 1027 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32063700 32063700 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:32063700C>T ENST00000375244.3 - 3 2131 c.1930G>A c.(1930-1932)Ggc>Agc p.G644S TNXB_ENST00000479795.1_Missense_Mutation_p.G644S|TNXB_ENST00000375247.2_Missense_Mutation_p.G644S P22105 TENX_HUMAN tenascin XB 644 EGF-like 16. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CAGGTAGGGCCGGTGTAGCCT 0.687000 21 79 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25251421 25251421 + Missense_Mutation SNP A A C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:25251421A>C ENST00000328086.7 - 7 3423 c.2620T>G c.(2620-2622)Ttc>Gtc p.F874V NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 874 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) TGGGCGCTGAAATGAGAACTG 0.458000 70 426 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140552501 140552501 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr5:140552501G>A ENST00000231137.3 + 1 259 c.85G>A c.(85-87)Gaa>Aaa p.E29K NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 29 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCTGGCGCCGAACCGCTTCG 0.517000 81 326 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241697827 241697827 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:241697827G>A ENST00000498729.2 - 26 2778 c.2532C>T c.(2530-2532)acC>acT p.T844T KIF1A_ENST00000320389.7_Silent_p.T835T NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 835 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity p.T835T(1) NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGTCTCCGCCGGTCACCACGT 0.637000 12 93 0 0 1 0 0 ANXA2R 389289 broad.mit.edu 37 5 43040202 43040202 + Translation_Start_Site SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr5:43040202C>T ENST00000314890.3 - 0 1366 NM_001014279.2 NP_001014301.1 Q3ZCQ2 AX2R_HUMAN annexin A2 receptor receptor activity AGTCTCTGCACTACCATCAGC 0.502000 OREG0016598 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 53 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54825264 54825264 + Splice_Site SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:54825264C>T ENST00000545554.1 + 25 5696 c.5696_splice c.e25+1 p.T1899_splice UNC13C_ENST00000537900.1_Splice_Site_p.T1897_splice|UNC13C_ENST00000260323.11_Splice_Site_p.T1899_splice Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1899 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TTGGACAAAACGTAAGTTTTT 0.338000 5 59 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4718357 4718357 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr3:4718357C>T ENST00000302640.8 + 23 3144 c.2794C>T c.(2794-2796)Cgg>Tgg p.R932W ITPR1_ENST00000423119.2_Missense_Mutation_p.R938W|ITPR1_ENST00000357086.4_Missense_Mutation_p.R938W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.R923W|ITPR1_ENST00000354582.6_Missense_Mutation_p.R947W|ITPR1_ENST00000443694.2_Missense_Mutation_p.R932W NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 947 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GGTGGTGCTCCGGGGAGGAGG 0.562000 35 104 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 7 163 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71494871 71494871 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr5:71494871C>T ENST00000296755.7 + 5 5987 c.5689C>T c.(5689-5691)Cgg>Tgg p.R1897W NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1897 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GAAGACCACCCGGACCTCAGA 0.453000 180 119 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8180474 8180474 + Missense_Mutation SNP C C T rs146523311 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:8180474C>T ENST00000600128.1 - 30 4177 c.3763G>A c.(3763-3765)Gag>Aag p.E1255K FBN3_ENST00000601739.1_Missense_Mutation_p.E1255K|FBN3_ENST00000270509.2_Missense_Mutation_p.E1255K Q75N90 FBN3_HUMAN fibrillin 3 1255 EGF-like 18; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TTCGTGTTCTCGCAGTCCCCA 0.607000 32 109 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205098 23205098 + RNA SNP G G A rs146035894 by1000genomes TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:23205098G>A ENST00000400153.2 - 0 756 NR_003521.1 CTGGAAGAACGTGGTTGCCAC 0.373000 6 57 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51330356 51330356 + Missense_Mutation SNP G G A rs61751959 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:51330356G>A ENST00000326856.4 - 4 385 c.256C>T c.(256-258)Cgg>Tgg p.R86W KLK15_ENST00000416184.1_Missense_Mutation_p.R87W|KLK15_ENST00000301421.2_Missense_Mutation_p.R87W|KLK15_ENST00000598239.1_Missense_Mutation_p.R87W|KLK15_ENST00000596931.1_Missense_Mutation_p.R86W NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 87 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) GACGTGGTCCGTAGTTGCTCT 0.652000 79 372 0 0 1 0 0 IL2RA 3559 broad.mit.edu 37 10 6063598 6063598 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr10:6063598G>A ENST00000379959.3 - 4 599 c.426C>T c.(424-426)ttC>ttT p.F142F IL2RA_ENST00000256876.6_Silent_p.F142F|IL2RA_ENST00000379954.1_Intron NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha 142 Sushi 2. cell proliferation integral to membrane interleukin-2 receptor activity p.F142F(2) endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GCCCCACCACGAAATGATAAA 0.512000 85 299 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128863477 128863477 + Nonsense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr5:128863477C>T ENST00000274487.4 + 5 1250 c.1105C>T c.(1105-1107)Cag>Tag p.Q369* CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 369 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TCTGAGTGTGCAGGTCAATCT 0.299000 275 219 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132396530 132396530 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr12:132396530C>T ENST00000321867.4 + 13 1343 c.992C>T c.(991-993)cCg>cTg p.P331L NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 331 Interaction with GABARAP and GABARAPL2. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CTGGCCTCCCCGGCTGACACC 0.632000 91 66 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33635841 33635841 + Silent SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr13:33635841C>T ENST00000380099.3 + 4 2633 c.2625C>T c.(2623-2625)atC>atT p.I875I KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 875 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CCAATGGAATCGATGACGGGC 0.517000 203 345 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968431 4968431 + Missense_Mutation SNP G G C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chrY:4968431G>C ENST00000333703.4 + 5 3292 c.2779G>C c.(2779-2781)Gac>Cac p.D927H PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D938H|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D938H NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 938 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 AGTCACACTAGACCTTCCTAT 0.428000 71 85 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48174686 48174686 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:48174686G>A ENST00000311303.3 - 4 914 c.569C>T c.(568-570)aCg>aTg p.T190M ABCC12_ENST00000416054.1_Missense_Mutation_p.T190M|ABCC12_ENST00000448542.1_Missense_Mutation_p.T190M NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 190 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CCGGATGGCCGTGCGGTAGTT 0.532000 6 669 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24993386 24993386 + Missense_Mutation SNP G G T rs78787676 byFrequency TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:24993386G>T ENST00000323848.9 + 13 2024 c.1709G>T c.(1708-1710)cGc>cTc p.R570L SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 570 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.R570L(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) CCTCGACGGCGCAGGACTCCC 0.557000 4 227 0.00909568 0.00938909 1 1 0 LMBR1 64327 broad.mit.edu 37 7 156520649 156520649 + Missense_Mutation SNP T T C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr7:156520649T>C ENST00000353442.4 - 12 1204 c.968A>G c.(967-969)gAa>gGa p.E323G LMBR1_ENST00000354505.4_Missense_Mutation_p.E364G|LMBR1_ENST00000540390.1_Missense_Mutation_p.E302G|LMBR1_ENST00000359422.4_Missense_Mutation_p.E171G|LMBR1_ENST00000461603.1_5'UTR NM_022458.3 NP_071903.2 Q8WVP7 LMBR1_HUMAN limb development membrane protein 1 323 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) CATTGCTGTTTCATCAACCAA 0.363000 7 294 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42018305 42018305 + Missense_Mutation SNP C C T rs148502119 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr7:42018305C>T ENST00000395925.3 - 11 1624 c.1540G>A c.(1540-1542)Gtg>Atg p.V514M GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 514 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CACCTGCACACGAACTCCTTC 0.443000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 125 276 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84233890 84233890 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:84233890G>A ENST00000536636.1 + 3 1075 c.730G>A c.(730-732)Gaa>Aaa p.E244K PRSS35_ENST00000369700.3_Missense_Mutation_p.E244K NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 244 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GAGGATTGCCGAAGGGAGGCC 0.567000 35 150 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578370 7578370 + Splice_Site SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr17:7578370C>T ENST00000420246.2 - 5 692 c.e5+1 TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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) CAGCTGCTCACCATCGCTATC 0.632000 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) 73 95 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276064 186276064 + Missense_Mutation SNP G G T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:186276064G>T ENST00000445192.2 + 7 1258 c.1213G>T c.(1213-1215)Gca>Tca p.A405S PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.A364S|PRG4_ENST00000367485.4_Missense_Mutation_p.A312S|PRG4_ENST00000367486.3_Missense_Mutation_p.A362S NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 405 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTGCACCCACCAC 0.657000 5 415 0.184627 0.184627 1 1 0 PLOD1 5351 broad.mit.edu 37 1 12030859 12030859 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:12030859G>A ENST00000196061.4 + 17 1915 c.1888G>A c.(1888-1890)Ggc>Agc p.G630S PLOD1_ENST00000376369.3_Missense_Mutation_p.G677S NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 630 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) GCTCTACCCCGGCTACTACAC 0.607000 4 159 0 0 1 0 0 KIF22 3835 broad.mit.edu 37 16 29814108 29814108 + Missense_Mutation SNP C C A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:29814108C>A ENST00000561482.1 + 9 1732 c.1095C>A c.(1093-1095)agC>agA p.S365R KIF22_ENST00000569382.2_Missense_Mutation_p.S365R|KIF22_ENST00000160827.4_Missense_Mutation_p.S433R|KIF22_ENST00000400751.5_Missense_Mutation_p.S365R|KIF22_ENST00000400750.2_5'UTR NM_001256270.1 NP_001243199.1 Q14807 KIF22_HUMAN kinesin family member 22 433 blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding endometrium(1)|large_intestine(1)|lung(11)|skin(1) 14 AGAAGCTAAGCAGCATGGACC 0.617000 5 395 0.00307968 0.00319621 1 1 0 MAP1B 4131 broad.mit.edu 37 5 71495084 71495084 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr5:71495084G>A ENST00000296755.7 + 5 6200 c.5902G>A c.(5902-5904)Gaa>Aaa p.E1968K NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1968 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CAGCCCCCCCGAAGTGAGTGG 0.478000 81 367 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 9 1189 0.000442599 0.000464367 1 1 0 ERBB2 2064 broad.mit.edu 37 17 37863277 37863277 + Silent SNP T T A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr17:37863277T>A ENST00000406381.2 + 4 528 c.18T>A c.(16-18)ccT>ccA p.P6P ERBB2_ENST00000540147.1_Silent_p.P6P|ERBB2_ENST00000578199.1_Silent_p.P6P|ERBB2_ENST00000584601.1_Silent_p.P6P|ERBB2_ENST00000584450.1_Silent_p.P36P|ERBB2_ENST00000541774.1_Silent_p.P21P|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Silent_p.P6P|ERBB2_ENST00000269571.5_Silent_p.P36P NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 36 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) TGCGGCTCCCTGCCAGTCCCG 0.642000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 51 4463 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23119457 23119457 + Silent SNP A A G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:23119457A>G ENST00000219689.7 - 2 680 c.681T>C c.(679-681)caT>caC p.H227H NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 227 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) CCTGGGCATCATGTTGGGAAT 0.478000 66 291 0 0 1 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190779 39190779 + Missense_Mutation SNP T T C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr17:39190779T>C ENST00000344363.5 - 1 328 c.295A>G c.(295-297)Agt>Ggt p.S99G NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 109 extracellular region|keratin filament structural constituent of epidermis p.S99G(2) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACAGCTCCACTGCTGCCCTCC 0.652000 5 114 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21806573 21806573 + Missense_Mutation SNP A A G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:21806573A>G ENST00000318220.6 + 14 2118 c.1070A>G c.(1069-1071)gAg>gGg p.E357G NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 413 NBPF 2. cytoplasm p.E413G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GATGAGAAAGAGCCTGAAGTC 0.463000 5 306 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35232318 35232318 + Silent SNP T T G rs2607243 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:35232318T>G ENST00000392232.3 + 6 1332 c.1164T>G c.(1162-1164)acT>acG p.T388T ZNF181_ENST00000492450.1_Silent_p.T344T|ZNF181_ENST00000459757.1_Silent_p.T343T Q2M3W8 ZN181_HUMAN zinc finger protein 181 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GAATTCATACTCAAGAAAAAC 0.388000 6 307 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254013 39254013 + Missense_Mutation SNP G G C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr17:39254013G>C ENST00000333822.4 - 1 380 c.324C>G c.(322-324)agC>agG p.S108R NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 108 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.S108R(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 gcttgcagcagctggacacac 0.662000 6 124 0 0 1 0 0 FASTKD5 60493 broad.mit.edu 37 20 3128938 3128938 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr20:3128938C>T ENST00000380266.3 - 2 1100 c.779G>A c.(778-780)aGg>aAg p.R260K UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 260 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 GTTTAAAAACCTAGGTACTTT 0.398000 41 272 0 0 1 0 0 SLAIN1 122060 broad.mit.edu 37 13 78293775 78293775 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr13:78293775G>A ENST00000466548.1 + 3 695 c.669G>A c.(667-669)gcG>gcA p.A223A SLAIN1_ENST00000418532.1_Silent_p.A4A|SLAIN1_ENST00000488699.1_Silent_p.A81A|SLAIN1_ENST00000267219.8_Silent_p.A4A NM_001242868.1 NP_001229797.1 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 223 breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) TGGAAGCAGCGAGACGTTCCC 0.468000 109 807 0 0 1 0 0 DCLK2 166614 broad.mit.edu 37 4 151160950 151160950 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr4:151160950G>A ENST00000296550.7 + 11 2377 c.1623G>A c.(1621-1623)gcG>gcA p.A541A DCLK2_ENST00000506325.1_Silent_p.A540A|DCLK2_ENST00000302176.8_Silent_p.A558A NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 541 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TTGGGCTTGCGACTGTGGTAG 0.458000 27 421 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72132878 72132878 + Nonsense_Mutation SNP A A T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:72132878A>T ENST00000268482.3 + 6 1326 c.817A>T c.(817-819)Aaa>Taa p.K273* DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 273 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) TCCCTCCTACAAATATAACGA 0.592000 53 102 0 0 1 0 0 WFDC10A 140832 broad.mit.edu 37 20 44258532 44258532 + Missense_Mutation SNP A A T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr20:44258532A>T ENST00000372643.3 + 1 368 c.80A>T c.(79-81)aAg>aTg p.K27M WFDC9_ENST00000326000.1_Intron NM_080753.2 NP_542791.1 Q9H1F0 WF10A_HUMAN WAP four-disulfide core domain 10A 27 extracellular region serine-type endopeptidase inhibitor activity large_intestine(2) 2 Myeloproliferative disorder(115;0.0122) CGTGACAAGAAGAGGATGCAG 0.587000 OREG0025983 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 105 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1246017 1246017 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:1246017G>A ENST00000348261.5 + 5 885 c.637G>A c.(637-639)Gtg>Atg p.V213M CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 213 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CATCAACCGCGTGCCTAGTAA 0.652000 45 254 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34130031 34130031 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:34130031G>A ENST00000389232.4 + 89 11920 c.11850G>A c.(11848-11850)ggG>ggA p.G3950G RYR3_ENST00000415757.3_Silent_p.G3945G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3950 EF-hand. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.G3949G(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCATGGAAGGGCAAAAACAGT 0.408000 5 425 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 6 141 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242065640 242065640 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:242065640C>T ENST00000403638.3 - 10 2781 c.2690G>A c.(2689-2691)aGc>aAc p.S897N PASK_ENST00000544142.1_Missense_Mutation_p.S711N|PASK_ENST00000234040.4_Missense_Mutation_p.S897N|PASK_ENST00000405260.1_Missense_Mutation_p.S897N|PASK_ENST00000539818.1_Missense_Mutation_p.S681N|PASK_ENST00000358649.4_Missense_Mutation_p.S897N NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 897 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) ATGGTAGCAGCTCCCGGAGTA 0.647000 54 127 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292811 102292811 + RNA SNP C C A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:102292811C>A ENST00000561463.1 + 0 857 p.R133R(1) CCTGCACTCGCGTGGGAACGA 0.607000 4 134 0.0215528 0.022129 1 1 0 ASPM 259266 broad.mit.edu 37 1 197072286 197072286 + Missense_Mutation SNP C C T rs149033840 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:197072286C>T ENST00000367409.4 - 18 6351 c.6095G>A c.(6094-6096)cGt>cAt p.R2032H ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2032 IQ 14. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTTCATACCACGATAAGCTGA 0.333000 84 333 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 6 155 0 0 1 0 0 FERMT2 10979 broad.mit.edu 37 14 53386031 53386031 + Silent SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr14:53386031C>T ENST00000395631.2 - 3 417 c.201G>A c.(199-201)aaG>aaA p.K67K FERMT2_ENST00000553373.1_Silent_p.K67K|FERMT2_ENST00000341590.3_Silent_p.K67K|FERMT2_ENST00000343279.4_Silent_p.K67K|FERMT2_ENST00000399304.3_Silent_p.K67K Q96AC1 FERM2_HUMAN fermitin family member 2 67 actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) AAGTTCTCTTCTTTTCCCACC 0.393000 108 722 0 0 1 0 0 SSX2IP 117178 broad.mit.edu 37 1 85124124 85124124 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:85124124C>T ENST00000437941.2 - 8 1226 c.874G>A c.(874-876)Ggg>Agg p.G292R SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.G319R|SSX2IP_ENST00000342203.3_Missense_Mutation_p.G319R|SSX2IP_ENST00000605755.1_Missense_Mutation_p.G292R NM_001166295.1|NM_001166417.1 NP_001159767.1|NP_001159889.1 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 319 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) CTTAGTTCCCCGGCATCTTCT 0.438000 13 166 0 0 1 0 0 CPB2 1361 broad.mit.edu 37 13 46638808 46638808 + Silent SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr13:46638808C>T ENST00000181383.4 - 8 787 c.771G>A c.(769-771)agG>agA p.R257R CPB2_ENST00000439329.3_Silent_p.R220R|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 257 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) AAGCAAAGTTCCTATTCAGGT 0.413000 5 379 0 0 1 0 0 NUB1 51667 broad.mit.edu 37 7 151072988 151072988 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr7:151072988G>A ENST00000568733.1 + 13 1588 c.1522G>A c.(1522-1524)Gac>Aac p.D508N NUB1_ENST00000355851.4_Missense_Mutation_p.D484N|NUB1_ENST00000413040.2_Missense_Mutation_p.D494N|NUB1_ENST00000566856.1_Missense_Mutation_p.D470N Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 484 UBA 3. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) TCCTGAAACCGACAACCGTCA 0.493000 6 751 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 12 204 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47569336 47569336 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr20:47569336G>A ENST00000371917.4 + 5 518 c.518G>A c.(517-519)aGc>aAc p.S173N NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 173 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TATTTGGCCAGCAAAAATCTC 0.443000 5 556 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109092224 109092224 + Missense_Mutation SNP A A G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:109092224A>G ENST00000309863.6 + 9 3692 c.2978A>G c.(2977-2979)gAa>gGa p.E993G NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 993 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTGTGAAGGAAGAACTTGAA 0.313000 107 285 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41710288 41710288 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr21:41710288C>T ENST00000400454.1 - 8 2000 c.1523G>A c.(1522-1524)cGa>cAa p.R508Q NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 508 Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTTCATTGGTCGAATGCTTGC 0.403000 57 88 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227920747 227920747 + Missense_Mutation SNP C C T rs150979437 by1000genomes TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:227920747C>T ENST00000396625.3 - 30 2837 c.2630G>A c.(2629-2631)cGg>cAg p.R877Q COL4A4_ENST00000329662.7_Missense_Mutation_p.R877Q NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 877 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TGCCCCAGGCCGTCCTGGGAG 0.627000 29 183 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125557591 125557591 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr10:125557591C>T ENST00000241305.3 - 6 944 c.790G>A c.(790-792)Gtc>Atc p.V264I CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 264 F5/8 type C. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) ACCATGGGGACGGGTAGCTCA 0.483000 19 238 0 0 1 0 0 OR7G1 125962 broad.mit.edu 37 19 9225729 9225729 + Silent SNP C C T rs138779373 byFrequency TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:9225729C>T ENST00000293614.1 - 1 710 c.711G>A c.(709-711)gcG>gcA p.A237A OR7G1_ENST00000541538.1_Silent_p.A237A Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 AGGTGGAAAACGCTTTATACT 0.418000 59 175 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20056686 20056686 + Splice_Site SNP T T C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr13:20056686T>C ENST00000400230.2 - 4 165 c.119_splice c.e4-1 p.M41_splice TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 41 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CGTTCTAACATACTTTAGCCA 0.313000 5 346 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212589855 212589855 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:212589855G>A ENST00000342788.4 - 6 997 c.687C>T c.(685-687)tgC>tgT p.C229C ERBB4_ENST00000436443.1_Silent_p.C229C|ERBB4_ENST00000402597.1_Silent_p.C229C NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 229 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CTCGATGGCAGCAGTCACTGA 0.483000 TSP Lung(8;0.080) 5 413 0 0 1 0 0 RFC4 5984 broad.mit.edu 37 3 186518951 186518951 + Silent SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr3:186518951C>T ENST00000392481.2 - 3 446 c.165G>A c.(163-165)caG>caA p.Q55Q RFC4_ENST00000433496.1_Silent_p.Q55Q|RFC4_ENST00000296273.2_Silent_p.Q55Q NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 55 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) CCACTTCTTCCTGGAAAGCAA 0.383000 93 475 0 0 1 0 0 SEPT1 1731 broad.mit.edu 37 16 30393182 30393182 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:30393182G>A ENST00000321367.3 - 5 390 c.345C>T c.(343-345)gcC>gcT p.A115A SEPT1_ENST00000605106.1_Silent_p.A73A|SEPT1_ENST00000571393.1_Silent_p.A68A NM_052838.4 NP_443070.5 Q8WYJ6 SEPT1_HUMAN septin 1 68 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1) 24 Colorectal(24;0.193) GGCGCTCAATGGCCAGGGTCT 0.562000 28 820 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69727547 69727547 + Silent SNP A A G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:69727547A>G ENST00000349945.1 + 14 5089 c.3537A>G c.(3535-3537)caA>caG p.Q1179Q NFAT5_ENST00000393742.2_Silent_p.Q1179Q|NFAT5_ENST00000432919.1_Silent_p.Q1273Q|NFAT5_ENST00000567239.1_Silent_p.Q1272Q|NFAT5_ENST00000566899.1_Silent_p.Q1179Q|NFAT5_ENST00000354436.2_Silent_p.Q1255Q NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1255 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 agcagcagcaacagcagcagc 0.483000 5 248 0 0 1 0 0 PPM1F 9647 broad.mit.edu 37 22 22277807 22277807 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr22:22277807G>A ENST00000407142.1 - 6 1579 c.519C>T c.(517-519)gcC>gcT p.A173A PPM1F_ENST00000538191.1_Silent_p.A237A|PPM1F_ENST00000263212.5_Silent_p.A341A P49593 PPM1F_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1F 341 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) AAGCTGCATCGGCCTCCCCAG 0.632000 46 150 0 0 1 0 0 SCARF1 8578 broad.mit.edu 37 17 1538332 1538332 + Missense_Mutation SNP C C T rs147642060 byFrequency TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr17:1538332C>T ENST00000263071.4 - 11 2262 c.2213G>A c.(2212-2214)cGg>cAg p.R738Q SCARF1_ENST00000348987.3_Missense_Mutation_p.R652Q|SCARF1_ENST00000571272.1_3'UTR NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 738 Gly-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GCCCTTTTTCCGATTCAGGGC 0.632000 17 86 0 0 1 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473120 22473120 + RNA SNP T T C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:22473120T>C ENST00000557788.2 - 0 150 CACCAGTTACTACTGCTGATG 0.617000 6 608 0 0 1 0 0 WNT3A 89780 broad.mit.edu 37 1 228246856 228246856 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:228246856G>A ENST00000284523.1 + 4 827 c.749G>A c.(748-750)cGc>cAc p.R250H WNT3A_ENST00000366753.2_Missense_Mutation_p.R250H NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 250 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) CGGGAGTCCCGCGGCTGGGTG 0.657000 39 211 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186030997 186030997 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:186030997C>T ENST00000271588.4 + 47 7556 c.7327C>T c.(7327-7329)Cgg>Tgg p.R2443W HMCN1_ENST00000367492.2_Missense_Mutation_p.R2443W NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2443 Ig-like C2-type 22. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CAGGATGCTACGGCTGATGCA 0.398000 48 211 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71142270 71142270 + Silent SNP G G A rs145007893 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr7:71142270G>A ENST00000333538.5 + 9 2113 c.1479G>A c.(1477-1479)ccG>ccA p.P493P WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 493 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TATTGTATCCGTGCCATGGCT 0.537000 23 951 0 0 1 0 0 IFNGR1 3459 broad.mit.edu 37 6 137524778 137524778 + Missense_Mutation SNP C C A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:137524778C>A ENST00000367739.4 - 5 712 c.591G>T c.(589-591)gaG>gaT p.E197D IFNGR1_ENST00000543628.1_Missense_Mutation_p.E169D|IFNGR1_ENST00000367735.2_3'UTR NM_000416.2 NP_000407.1 P15260 INGR1_HUMAN interferon gamma receptor 1 197 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) GGCACTGAATCTCGTCACAAT 0.378000 86 172 6.07207e-39 6.70022e-39 1 1 0 CHAMP1 283489 broad.mit.edu 37 13 115091201 115091201 + Silent SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr13:115091201C>T ENST00000361283.1 + 3 2193 c.1884C>T c.(1882-1884)gaC>gaT p.D628D NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 628 Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding AGAGCTCAGACGCTGAGCTTA 0.408000 18 754 0 0 1 0 0 ZNF562 54811 broad.mit.edu 37 19 9764114 9764114 + Missense_Mutation SNP G G T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:9764114G>T ENST00000448622.1 - 6 954 c.792C>A c.(790-792)aaC>aaA p.N264K ZNF562_ENST00000453372.2_Missense_Mutation_p.N264K|ZNF562_ENST00000590155.1_Missense_Mutation_p.N263K|ZNF562_ENST00000293648.4_Missense_Mutation_p.N192K|ZNF562_ENST00000537617.1_Missense_Mutation_p.N148K|ZNF562_ENST00000453792.2_Missense_Mutation_p.N195K|ZNF562_ENST00000541032.1_Missense_Mutation_p.N227K NM_001130031.1|NM_001130032.1 NP_001123503.1|NP_001123504.1 Q6V9R5 ZN562_HUMAN zinc finger protein 562 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 17 ATTTCCCACAGTTCTTAGTCT 0.378000 19 325 1.16021e-09 1.25146e-09 1 1 0 TRPM6 140803 broad.mit.edu 37 9 77376995 77376995 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr9:77376995C>T ENST00000451710.3 - 26 4829 c.4592G>A c.(4591-4593)cGc>cAc p.R1531H TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1531H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526H|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526H Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1531 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 CCTGTATCTGCGGAGAGGATT 0.418000 55 212 0 0 1 0 0 MISP 126353 broad.mit.edu 37 19 758042 758042 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:758042C>T ENST00000215582.6 + 2 1199 c.1096C>T c.(1096-1098)Cgg>Tgg p.R366W NM_173481.2 NP_775752.1 mitotic spindle positioning GGAAGACCACCGGCGGGAGGG 0.682000 21 34 0 0 1 0 0 RGMA 56963 broad.mit.edu 37 15 93588701 93588701 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:93588701C>T ENST00000329082.7 - 4 1151 c.880G>A c.(880-882)Gtc>Atc p.V294I RGMA_ENST00000425933.2_Missense_Mutation_p.V278I|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000543599.1_Missense_Mutation_p.V278I|RGMA_ENST00000538818.1_Missense_Mutation_p.V185I|RGMA_ENST00000542321.2_Missense_Mutation_p.V278I|RGMA_ENST00000557301.1_Missense_Mutation_p.V302I|RGMA_ENST00000556658.1_Missense_Mutation_p.V185I NM_020211.2 NP_064596.2 Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 294 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 9 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) GGCATGCGGACGGCAAAGGTC 0.622000 17 132 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30955236 30955236 + Silent SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:30955236C>T ENST00000376296.3 + 2 1525 c.1284C>T c.(1282-1284)acC>acT p.T428T MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 428 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 CCAGCACAACCTCCAGTGGGG 0.597000 90 536 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59912054 59912054 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr18:59912054G>A ENST00000256858.6 + 11 1926 c.1678G>A c.(1678-1680)Gat>Aat p.D560N KIAA1468_ENST00000398130.2_Missense_Mutation_p.D560N Q9P260 K1468_HUMAN KIAA1468 560 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) TAAAGAGCGAGATCAGCTTCT 0.378000 60 118 0 0 1 0 0 NUF2 83540 broad.mit.edu 37 1 163317716 163317716 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:163317716G>A ENST00000271452.3 + 12 1391 c.1112G>A c.(1111-1113)cGc>cAc p.R371H NUF2_ENST00000524800.1_Missense_Mutation_p.R324H|NUF2_ENST00000367900.3_Missense_Mutation_p.R371H NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 371 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding p.R371H(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) CAATACAAACGCACAGTAATT 0.318000 31 182 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074441 76074441 + RNA SNP A A T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:76074441A>T ENST00000395215.3 + 0 620 CGAGCTGCAGAGAAGCGGTCC 0.557000 8 247 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112496518 112496518 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:112496518C>T ENST00000230538.7 - 11 1751 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K LAMA4_ENST00000424408.2_Missense_Mutation_p.E445K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E445K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E445K NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 452 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CACCTACGTTCGTAAGCCTCA 0.483000 161 232 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779648 36779648 + Missense_Mutation SNP T T C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr3:36779648T>C ENST00000416516.2 - 2 993 c.503A>G c.(502-504)aAg>aGg p.K168R NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 168 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 CATTGGGCCCTTCCCCATATC 0.567000 171 360 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52899837 52899837 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr18:52899837C>T ENST00000354452.3 - 17 2163 c.1552G>A c.(1552-1554)Gag>Aag p.E518K TCF4_ENST00000537856.3_Missense_Mutation_p.E388K|TCF4_ENST00000568740.1_Missense_Mutation_p.E493K|TCF4_ENST00000544241.2_Missense_Mutation_p.E447K|TCF4_ENST00000570177.2_Missense_Mutation_p.E388K|TCF4_ENST00000567880.1_Missense_Mutation_p.E458K|TCF4_ENST00000561992.1_Missense_Mutation_p.E388K|TCF4_ENST00000566286.1_Missense_Mutation_p.E515K|TCF4_ENST00000561831.3_Missense_Mutation_p.E358K|TCF4_ENST00000540999.1_Missense_Mutation_p.E494K|TCF4_ENST00000565018.2_Missense_Mutation_p.E518K|TCF4_ENST00000566279.1_Missense_Mutation_p.E458K|TCF4_ENST00000356073.4_Missense_Mutation_p.E518K|TCF4_ENST00000543082.1_Missense_Mutation_p.E476K|TCF4_ENST00000564999.1_Missense_Mutation_p.E518K|TCF4_ENST00000570287.2_Missense_Mutation_p.E358K|TCF4_ENST00000564228.1_Missense_Mutation_p.E447K|TCF4_ENST00000457482.3_Missense_Mutation_p.E358K|TCF4_ENST00000537578.1_Missense_Mutation_p.E494K|TCF4_ENST00000568673.1_Missense_Mutation_p.E494K|TCF4_ENST00000564403.2_Missense_Mutation_p.E524K|TCF4_ENST00000398339.1_Missense_Mutation_p.E620K NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 518 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TCATCACCCTCGTCATCGGAT 0.468000 49 125 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37536753 37536753 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr20:37536753C>T ENST00000299824.1 + 10 1300 c.1111C>T c.(1111-1113)Cgg>Tgg p.R371W PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R329W NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 371 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) CCTGTGGCAGCGGAGTGCAGC 0.602000 39 228 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420862 11420862 + RNA SNP T T G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr12:11420862T>G ENST00000381842.3 - 0 358 PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGGACTGGTTTCCTCCTTGTG 0.632000 7 793 0 0 1 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238671269 238671269 + Missense_Mutation SNP A A G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:238671269A>G ENST00000244815.5 + 10 1081 c.841A>G c.(841-843)Aaa>Gaa p.K281E LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K249E|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.K305E|LRRFIP1_ENST00000308482.9_Intron NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 305 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) AGTGGAGGTGAAAAATGAAAT 0.433000 4 212 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45699701 45699701 + Silent SNP G G A rs149589767 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr7:45699701G>A ENST00000297323.7 + 7 1390 c.1368G>A c.(1366-1368)ccG>ccA p.P456P ADCY1_ENST00000432715.1_Silent_p.P231P NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 456 P -> L (in dbSNP:rs12721473). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) AGGTAGAACCGGGTTACGGAC 0.507000 138 284 0 0 1 0 0 UVRAG 7405 broad.mit.edu 37 11 75851957 75851957 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr11:75851957G>A ENST00000356136.3 + 15 1841 c.1600G>A c.(1600-1602)Gtc>Atc p.V534I UVRAG_ENST00000533454.1_Missense_Mutation_p.V162I|UVRAG_ENST00000539288.1_Missense_Mutation_p.V162I|UVRAG_ENST00000538870.1_Missense_Mutation_p.V90I|UVRAG_ENST00000532130.1_Missense_Mutation_p.V162I|UVRAG_ENST00000531818.1_Missense_Mutation_p.V162I|UVRAG_ENST00000528420.1_Missense_Mutation_p.V433I NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 534 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TGTGACCACCGTCCCCTCCAT 0.493000 55 223 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227223274 227223274 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:227223274G>A ENST00000366769.3 - 24 4420 c.3129C>T c.(3127-3129)aaC>aaT p.N1043N CDC42BPA_ENST00000366764.2_Silent_p.N1015N|CDC42BPA_ENST00000366767.3_Silent_p.N962N|CDC42BPA_ENST00000366766.2_Silent_p.N1078N|CDC42BPA_ENST00000535525.1_Silent_p.N1023N|CDC42BPA_ENST00000334218.5_Silent_p.N1043N|CDC42BPA_ENST00000366765.3_Silent_p.N1056N NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1056 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TTGGAGCTTTGTTTACACAAG 0.373000 69 355 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25444786 25444786 + Silent SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr13:25444786C>T ENST00000255324.5 + 32 4408 c.4356C>T c.(4354-4356)agC>agT p.S1452S RNF17_ENST00000381921.1_Silent_p.S1410S|RNF17_ENST00000339524.3_Silent_p.S462S NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1452 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GTGGAGTCAGCGGGGAATCAG 0.438000 148 352 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 5 319 0 0 1 0 0 ZIC2 7546 broad.mit.edu 37 13 100637726 100637726 + Silent SNP G G T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr13:100637726G>T ENST00000376335.3 + 3 1682 c.1389G>T c.(1387-1389)gcG>gcT p.A463A ZIC2_ENST00000477213.1_3'UTR NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 463 Poly-Ala. 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) cggcggcggcggctgcggcgg 0.816000 3 24 0.115264 0.116477 1 1 0 EPHA7 2045 broad.mit.edu 37 6 93956606 93956606 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:93956606C>T ENST00000369303.4 - 15 2814 c.2630G>A c.(2629-2631)cGt>cAt p.R877H NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 877 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.R877L(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CCTTTCAGCACGCTCCTTTTG 0.423000 114 241 0 0 1 0 0 C9orf89 84270 broad.mit.edu 37 9 95869990 95869990 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr9:95869990G>A ENST00000375464.2 + 2 170 c.42G>A c.(40-42)acG>acA p.T14T NM_032310.3 NP_115686.3 Q96LW7 BINCA_HUMAN chromosome 9 open reading frame 89 14 CARD. negative regulation of I-kappaB kinase/NF-kappaB cascade cytosol|nucleus CARD domain binding endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 TGCAGGACACGCCTTTCCTGA 0.562000 50 65 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47110141 47110141 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr18:47110141G>A ENST00000261292.4 + 8 1651 c.1373G>A c.(1372-1374)cGg>cAg p.R458Q LIPG_ENST00000427224.2_Missense_Mutation_p.R384Q NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 458 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 GAAACCCAGCGGAAGTAAGTG 0.562000 3 42 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145324377 145324377 + Missense_Mutation SNP C C A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:145324377C>A ENST00000342960.5 + 28 3607 c.3572C>A c.(3571-3573)gCg>gAg p.A1191E NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1191 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAGGTAGTAGCGCCTGAAGTC 0.483000 3 44 0.115264 0.116477 1 1 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 5 289 0 0 1 0 0 LZTS1 11178 broad.mit.edu 37 8 20107374 20107374 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr8:20107374G>A ENST00000381569.1 - 4 2007 c.1650C>T c.(1648-1650)taC>taT p.Y550Y LZTS1_ENST00000522290.1_Silent_p.Y491Y|LZTS1_ENST00000265801.6_Silent_p.Y550Y Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 550 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) ACATGGCCACGTAGCTCTGCT 0.627000 102 343 0 0 1 0 0 COL6A2 0 broad.mit.edu 37 21 47545822 47545822 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr21:47545822C>T ENST00000300527.4 + 26 2197 c.2093C>T c.(2092-2094)gCg>gTg p.A698V COL6A2_ENST00000357838.4_Missense_Mutation_p.A698V|COL6A2_ENST00000409416.1_Missense_Mutation_p.A698V|COL6A2_ENST00000310645.5_Missense_Mutation_p.A698V|COL6A2_ENST00000397763.1_Missense_Mutation_p.A698V NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 698 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GAGTGGATTGCGGGCGGCACC 0.602000 37 106 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 8 237 0 0 1 0 0 SPATA2L 124044 broad.mit.edu 37 16 89764252 89764252 + Silent SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:89764252C>T ENST00000289805.5 - 3 833 c.765G>A c.(763-765)gcG>gcA p.A255A SPATA2L_ENST00000335360.7_Intron NM_152339.3 NP_689552.2 Q8IUW3 SPA2L_HUMAN spermatogenesis associated 2-like 255 breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1) 6 Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355) BRCA - Breast invasive adenocarcinoma(80;0.0272) AGGCCAGCTCCGCCGGGGGCG 0.701000 21 36 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) 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) tgctgctactgctgctgctgc 0.532000 T MLL ALL 5 164 0 0 1 0 0 FGD4 121512 broad.mit.edu 37 12 32754273 32754273 + Missense_Mutation SNP A A G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr12:32754273A>G ENST00000427716.2 + 6 1176 c.752A>G c.(751-753)aAt>aGt p.N251S FGD4_ENST00000534526.2_Missense_Mutation_p.N388S|FGD4_ENST00000266482.3_Missense_Mutation_p.N3S|FGD4_ENST00000546442.1_Missense_Mutation_p.N158S|FGD4_ENST00000381025.3_Missense_Mutation_p.N3S|FGD4_ENST00000525053.1_Missense_Mutation_p.N363S|FGD4_ENST00000531134.1_Missense_Mutation_p.N336S NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 251 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) GAGATGGTGAATAAAATCTTT 0.348000 42 156 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129155916 129155916 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr3:129155916G>A ENST00000429544.2 - 3 766 c.571C>T c.(571-573)Ccg>Tcg p.P191S MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000249910.1_Missense_Mutation_p.P191S|MBD4_ENST00000503197.1_Missense_Mutation_p.P191S NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 191 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 CTACTTGGCGGCATAAACACA 0.443000 Base excision repair (BER), DNA glycosylases 6 717 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28841228 28841228 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:28841228C>T ENST00000336783.4 + 8 1050 c.883C>T c.(883-885)Cgt>Tgt p.R295C ATXN2L_ENST00000570200.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R295C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R295C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R295C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R295C NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 295 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GCGAGAGCTGCGTGCGGCCCA 0.577000 50 220 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223175862 223175862 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:223175862G>A ENST00000284476.6 + 8 1287 c.1123G>A c.(1123-1125)Gtt>Att p.V375I NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 375 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TGAGCGAGACGTTTCTCATAC 0.527000 OREG0014268|OREG0026708 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 116 239 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53420319 53420319 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr13:53420319G>A ENST00000377942.3 - 1 2456 c.2253C>T c.(2251-2253)atC>atT p.I751I PCDH8_ENST00000338862.4_Silent_p.I751I NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 751 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CGATGATGACGATCAGCGGCG 0.701000 29 244 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 708985 708985 + Silent SNP C C G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:708985C>G ENST00000549091.1 + 24 3077 c.2985C>G c.(2983-2985)ctC>ctG p.L995L WDR90_ENST00000293879.4_Silent_p.L995L NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 995 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CCGTCTTCCTCTGGGATGTCC 0.642000 20 418 0 0 1 0 0 CIB2 10518 broad.mit.edu 37 15 78401612 78401612 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:78401612C>T ENST00000258930.3 - 4 639 c.311G>A c.(310-312)cGa>cAa p.R104Q CIB2_ENST00000557846.1_Missense_Mutation_p.R55Q|CIB2_ENST00000539011.1_Missense_Mutation_p.R61Q|CIB2_ENST00000560618.1_Missense_Mutation_p.R61Q NM_006383.2 NP_006374.1 O75838 CIB2_HUMAN calcium and integrin binding family member 2 104 EF-hand 2. calcium ion binding p.R104Q(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 CTTGAGCTCTCGGGGAGCCGA 0.552000 5 365 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q 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 6 223 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382749 152382749 + Missense_Mutation SNP G G A rs3814301 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:152382749G>A ENST00000271835.3 - 3 871 c.809C>T c.(808-810)aCc>aTc p.T270I RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 270 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTGACCGTGGGTCTCAGTCCC 0.612000 7 1373 0 0 1 0 0 TMEM47 83604 broad.mit.edu 37 X 34657384 34657384 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chrX:34657384G>A ENST00000275954.3 - 2 605 c.347C>T c.(346-348)gCg>gTg p.A116V NM_031442.3 NP_113630.1 Q9BQJ4 TMM47_HUMAN transmembrane protein 47 116 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 AAGCATGACCGCAACAGGTCT 0.443000 3 27 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106342 55106342 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:55106342C>T ENST00000453777.1 + 4 453 c.283C>T c.(283-285)Cgg>Tgg p.R95W LILRA1_ENST00000251372.3_Missense_Mutation_p.R95W|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 95 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) ACACACAGGGCGGTATCGCTG 0.572000 87 312 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12908073 12908073 + Missense_Mutation SNP T T C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:12908073T>C ENST00000317869.6 - 2 295 c.70A>G c.(70-72)Aac>Gac p.N24D NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 ACAAGAGTGTTGAGATTCCCA 0.453000 59 940 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79792085 79792085 + Missense_Mutation SNP G G C rs71828885 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr4:79792085G>C ENST00000335016.5 + 11 1546 c.1380G>C c.(1378-1380)caG>caC p.Q460H BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 460 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity p.Q460H(3) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 ATCCTCACcagcagcagcagc 0.577000 4 120 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 5 16 0 0 1 0 0 WDR89 112840 broad.mit.edu 37 14 64066609 64066609 + Missense_Mutation SNP A A T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr14:64066609A>T ENST00000394942.2 - 2 140 c.52T>A c.(52-54)Tta>Ata p.L18I WDR89_ENST00000267522.3_Missense_Mutation_p.L18I NM_001008726.2|NM_001258272.1|NM_080666.3 NP_001008726.1|NP_001245201.1|NP_542397.1 Q96FK6 WDR89_HUMAN WD repeat domain 89 18 endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101) TTGGTTCCTAAGGAACATTTA 0.368000 134 384 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32971139 32971139 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr13:32971139G>A ENST00000544455.1 + 26 9833 c.9606G>A c.(9604-9606)ccG>ccA p.P3202P BRCA2_ENST00000380152.3_Silent_p.P3202P NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 3202 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CTTCAGGGCCGTACACTGCTC 0.393000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 12 1840 0 0 1 0 0 ZNF605 100289635 broad.mit.edu 37 12 133502024 133502024 + Missense_Mutation SNP C C G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr12:133502024C>G ENST00000360187.4 - 5 2209 c.1861G>C c.(1861-1863)Gag>Cag p.E621Q ZNF605_ENST00000392321.3_Missense_Mutation_p.E652Q NM_183238.3 NP_899061.1 Q86T29 ZN605_HUMAN zinc finger protein 605 621 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00227)|all_epithelial(31;0.142) OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06) GTCCCACACTCATTGCATCCA 0.383000 129 196 0 0 1 0 0 SLC12A3 0 broad.mit.edu 37 16 56904081 56904081 + Silent SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:56904081C>T ENST00000438926.2 + 5 704 c.675C>T c.(673-675)ttC>ttT p.F225F SLC12A3_ENST00000563236.1_Silent_p.F225F|SLC12A3_ENST00000262502.5_Silent_p.F224F|SLC12A3_ENST00000566786.1_Silent_p.F224F NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 225 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TTTTCGCTTTCGCCAATGCCG 0.647000 58 297 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41976495 41976495 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:41976495C>T ENST00000372584.1 - 8 7859 c.6845G>A c.(6844-6846)gGa>gAa p.G2282E HIVEP3_ENST00000372583.1_Missense_Mutation_p.G2283E|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2282E|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2283E NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2283 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GCCCGGGCCTCCGCCGGTCCT 0.682000 21 88 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36547239 36547239 + Splice_Site SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr3:36547239G>A ENST00000273183.3 + 8 1133 c.831_splice c.e8-1 p.G278_splice STAC_ENST00000457375.2_Splice_Site_p.G217_splice|STAC_ENST00000476388.1_3'UTR NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 278 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 ctctttcAGGGATCTCTTTCC 0.338000 47 102 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 6 59 0 0 1 0 0 CKAP2L 150468 broad.mit.edu 37 2 113514074 113514074 + Missense_Mutation SNP A A G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:113514074A>G ENST00000541405.1 - 4 902 c.379T>C c.(379-381)Tca>Cca p.S127P CKAP2L_ENST00000302450.6_Missense_Mutation_p.S292P Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 292 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 GGTTTCTTTGATGACTGAACT 0.403000 154 373 0 0 1 0 0 FAR1 84188 broad.mit.edu 37 11 13749183 13749183 + Missense_Mutation SNP G G T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr11:13749183G>T ENST00000532502.1 + 2 2038 c.210G>T c.(208-210)ttG>ttT p.L70F FAR1_ENST00000354817.3_Missense_Mutation_p.L446F Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 446 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 AGTACGTATTGAATGAAGAAA 0.373000 57 287 1.4709e-25 1.60462e-25 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 9 409 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46728567 46728567 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr3:46728567C>T ENST00000318962.4 - 5 523 c.440G>A c.(439-441)gGc>gAc p.G147D ALS2CL_ENST00000415953.1_Missense_Mutation_p.G147D NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 147 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CAGCGATGCGCCCACCGAGCC 0.677000 14 38 0 0 1 0 0 TBCCD1 55171 broad.mit.edu 37 3 186276243 186276243 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr3:186276243G>A ENST00000424280.1 - 3 934 c.455C>T c.(454-456)tCt>tTt p.S152F TBCCD1_ENST00000446782.1_Missense_Mutation_p.S56F|TBCCD1_ENST00000338733.5_Missense_Mutation_p.S152F NM_001134415.1 NP_001127887.1 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 152 cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1) 17 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) CAGGTCAGGAGACTGAGATTT 0.403000 197 476 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27158047 27158047 + Nonsense_Mutation SNP G G T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr9:27158047G>T ENST00000380036.4 + 2 713 c.271G>T c.(271-273)Gaa>Taa p.E91* TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Nonsense_Mutation_p.E91* NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 91 Ig-like C2-type 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TTGGAAGAGAGAAAAGGCTAG 0.448000 61 188 7.91745e-34 8.68657e-34 1 1 0 IGHG1 0 broad.mit.edu 37 14 106204162 106204162 + RNA SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr14:106204162C>T ENST00000390548.2 - 0 1136 GGTCCACCACCGAGGAGAAGA 0.667000 6 372 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30722767 30722767 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr22:30722767G>A ENST00000215790.7 - 1 268 c.104C>T c.(103-105)aCc>aTc p.T35I TBC1D10A_ENST00000403477.3_Missense_Mutation_p.T35I|TBC1D10A_ENST00000490449.1_5'UTR NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 35 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GAGTTCGTCGGTGGTTGCGGC 0.711000 42 246 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 5 203 0.184627 0.184627 1 1 0 WHAMMP3 0 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 5 57 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108172884 108172884 + Nonsense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr3:108172884G>A ENST00000273353.3 - 22 2484 c.2428C>T c.(2428-2430)Cga>Tga p.R810* NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 810 IQ. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 AATTTGATTCGCATCAGTTTG 0.448000 34 225 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402386 248402386 + Missense_Mutation SNP G G T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:248402386G>T ENST00000306687.1 + 1 156 c.156G>T c.(154-156)gaG>gaT p.E52D NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCTACATAGAGAAACAGCTCC 0.478000 98 644 9.06123e-46 1.00564e-45 1 1 0 GPR39 2863 broad.mit.edu 37 2 133402714 133402714 + Missense_Mutation SNP C C G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:133402714C>G ENST00000329321.3 + 2 1366 c.897C>G c.(895-897)aaC>aaG p.N299K GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 299 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGATGCCCAACCAGATTCGGA 0.547000 81 251 0 0 1 0 0 UBQLN4 56893 broad.mit.edu 37 1 156012004 156012004 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:156012004G>A ENST00000368309.3 - 8 1382 c.1290C>T c.(1288-1290)ttC>ttT p.F430F UBQLN4_ENST00000368307.1_Intron NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 430 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) GGTTCCCCGCGAAGAGCGGCA 0.617000 46 313 0 0 1 0 0 ABCB6 10058 broad.mit.edu 37 2 220080843 220080843 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:220080843G>A ENST00000265316.3 - 5 1346 c.1030C>T c.(1030-1032)Cgg>Tgg p.R344W ABCB6_ENST00000439002.2_Missense_Mutation_p.R298W NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 344 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTCCACCCGCCGAGACGTG 0.687000 11 45 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132445272 132445272 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr12:132445272G>A ENST00000333577.4 + 2 217 c.108G>A c.(106-108)ccG>ccA p.P36P EP400_ENST00000389561.2_Silent_p.P36P|EP400_ENST00000330386.6_Silent_p.P36P|EP400_ENST00000332482.4_Silent_p.P36P|EP400_ENST00000389562.2_Silent_p.P36P Q96L91 EP400_HUMAN E1A binding protein p400 36 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity 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) ACCCACCCCCGTCCCCCGCAG 0.667000 21 33 0 0 1 0 0 MMD 23531 broad.mit.edu 37 17 53471706 53471706 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr17:53471706G>A ENST00000262065.3 - 7 1002 c.706C>T c.(706-708)Cgg>Tgg p.R236W NM_012329.2 NP_036461.2 Q15546 PAQRB_HUMAN monocyte to macrophage differentiation-associated 236 cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 CATAAATGCCGCATAAAGTCC 0.458000 6 741 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826573 143826573 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr7:143826573C>T ENST00000408899.2 + 1 423 c.368C>T c.(367-369)gCg>gTg p.A123V NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) GATCGCTATGCGGACATCTGC 0.493000 7 728 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55450945 55450945 + Silent SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:55450945C>T ENST00000446217.1 - 6 1728 c.1326G>A c.(1324-1326)acG>acA p.T442T NLRP7_ENST00000340844.2_Silent_p.T414T|NLRP7_ENST00000328092.5_Silent_p.T414T|NLRP7_ENST00000448121.2_Silent_p.T414T|NLRP7_ENST00000592784.1_Silent_p.T414T|NLRP7_ENST00000590030.1_Silent_p.T414T|NLRP7_ENST00000588756.1_Silent_p.T414T Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 414 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GGAGGCTCAGCGTCCGCAGCG 0.711000 39 77 0 0 1 0 0 S100A3 6274 broad.mit.edu 37 1 153520200 153520200 + Missense_Mutation SNP C C A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:153520200C>A ENST00000368713.3 - 3 460 c.264G>T c.(262-264)gaG>gaT p.E88D S100A3_ENST00000368712.1_Missense_Mutation_p.E88D|S100A4_ENST00000368714.1_Intron NM_002960.1 NP_002951.1 P33764 S10A3_HUMAN S100 calcium binding protein A3 88 calcium ion binding|protein binding breast(1)|liver(1)|lung(1) 3 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CCTTGAAGTACTCGTGGCAGT 0.597000 79 443 6.64046e-22 7.20321e-22 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34092119 34092119 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:34092119C>T ENST00000373381.4 - 33 5439 c.5263G>A c.(5263-5265)Gca>Aca p.A1755T CSMD2_ENST00000373380.1_Missense_Mutation_p.A628T|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1715 Sushi 10. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTGGCTGGTGCGAGGCCTTTG 0.542000 10 51 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 8 154 0 0 1 0 0 PKNOX2 63876 broad.mit.edu 37 11 125281736 125281736 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr11:125281736G>A ENST00000298282.9 + 10 1182 c.911G>A c.(910-912)cGt>cAt p.R304H PKNOX2_ENST00000542175.1_Missense_Mutation_p.R240H|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 304 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) AATATAATGCGTTCTTGGCTC 0.517000 87 378 0 0 1 0 0 PHLPP1 23239 broad.mit.edu 37 18 60563163 60563163 + Missense_Mutation SNP T T G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr18:60563163T>G ENST00000400316.4 + 6 2608 c.827T>G c.(826-828)cTt>cGt p.L276R PHLPP1_ENST00000262719.5_Missense_Mutation_p.L788R NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 788 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 GTGGATAAACTTTGTATGTCT 0.383000 45 109 0 0 1 0 0 MCAM 4162 broad.mit.edu 37 11 119182565 119182565 + Missense_Mutation SNP C C T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr11:119182565C>T ENST00000392814.1 - 5 1814 c.1085G>A c.(1084-1086)aGc>aAc p.S362N MCAM_ENST00000264036.4_Missense_Mutation_p.S413N P43121 MUC18_HUMAN melanoma cell adhesion molecule 413 Ig-like C2-type 2. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) GCCGGGTATGCTGGGCACAGA 0.617000 5 397 0 0 1 0 0 APLP2 334 broad.mit.edu 37 11 129993656 129993656 + Missense_Mutation SNP G G A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr11:129993656G>A ENST00000263574.5 + 7 1144 c.1072G>A c.(1072-1074)Gct>Act p.A358T APLP2_ENST00000278756.7_Missense_Mutation_p.A368T|APLP2_ENST00000528499.1_Intron|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000338167.5_Missense_Mutation_p.A358T|APLP2_ENST00000543137.1_Missense_Mutation_p.A265T|APLP2_ENST00000345598.5_Intron NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 358 BPTI/Kunitz inhibitor. G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TTATTGTATGGCTGTGTGTAA 0.562000 86 378 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266136 41266136 + Missense_Mutation SNP T T C rs121913407 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr3:41266136T>C ENST00000349496.5 + 3 413 c.133T>C c.(133-135)Tct>Cct p.S45P CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 45 Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CACAGCTCCTTCTCTGAGTGG 0.502000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 81 173 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR 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 5 528 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27100182 27100184 + In_Frame_Del DEL GCA GCA - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:27100182_27100184delGCA ENST00000324856.7 + 16 4349_4351 c.3978_3980delGCA c.(3976-3981)ccg>cc p.PQ1326del ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1326 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q1327*(1)|p.Q1334delQ(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCTACCCCCCgcagcagcagcag 0.591 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 9 373 --- --- --- --- SLC6A9 6536 broad.mit.edu 37 1 44489938 44489938 + Frame_Shift_Del DEL T T - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:44489938delT ENST00000372310.3 - 2 177 c.12delA c.(10-12)aafs p.K4fs SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 335 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CTTTGGCACCTTTTCCTACCA 0.627 8 1527 --- --- --- --- BEND5 79656 broad.mit.edu 37 1 49201966 49201967 + Frame_Shift_Ins INS - - T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:49201966_49201967insT ENST00000371833.3 - 5 1138_1139 c.1052_1053insA c.(1051-1053)aaafs p.K351fs BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 351 BEN. large_intestine(5)|lung(2)|skin(1) 8 CTGCATCTTTCTTTTTTTTTGT 0.460 12 591 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 13 573 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 12 303 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)del p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 7 1239 --- --- --- --- ISG20L2 81875 broad.mit.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:156694023delG ENST00000313146.6 - 2 1647 c.865delC c.(865-867)tcfs p.L289fs ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCGGTTGAGGGGGGGGATA 0.557 8 512 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:181680102_181680103delAG ENST00000526775.1 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)aaagfs p.KE356fs CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 14 432 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 15 520 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183616826 183616828 + In_Frame_Del DEL TTC TTC - rs141411396 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:183616826_183616828delTTC ENST00000308641.4 - 2 1360_1362 c.1089_1091delGAA c.(1087-1092)aaa>aa p.KK363del RGL1_ENST00000367531.1_Intron|RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 363 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTCTTCCCTTTCTTCTTCTTCT 0.419 7 751 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186273952 186273954 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:186273952_186273954delTCC ENST00000445192.2 + 6 541_543 c.496_498delTCC c.(496-498)del p.S177del PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.S136del|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_In_Frame_Del_p.S136del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 177 Ser-rich. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 AAATCAAGAGtcctcctcctcct 0.355 7 302 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 11 505 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 8 923 --- --- --- --- CH17-132F21.1 0 broad.mit.edu 37 2 90458648 90458648 + Frame_Shift_Del DEL T T - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:90458648delT ENST00000603238.1 + 2 324 c.324delT c.(322-324)tgfs p.108fs CTTATTACTGTCAACAGAGTG 0.512 7 4210 --- --- --- --- TEKT4 150483 broad.mit.edu 37 2 95539829 95539830 + Frame_Shift_Ins INS - - G rs149873671 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:95539829_95539830insG ENST00000295201.4 + 3 826_827 c.689_690insG c.(688-690)ctafs p.L230fs AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 230 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.P230P(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 CAGGCTCATCCGTACTCCACCA 0.663 7 422 --- --- --- --- RGPD3 653489 broad.mit.edu 37 2 107041534 107041534 + Frame_Shift_Del DEL A A - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:107041534delA ENST00000409886.3 - 20 2976 c.2889delT c.(2887-2889)ttfs p.F963fs RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 963 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTGTTTGGCCAAAAATCACAC 0.398 7 2804 --- --- --- --- KLHL41 10324 broad.mit.edu 37 2 170366496 170366496 + Frame_Shift_Del DEL A A - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:170366496delA ENST00000284669.1 + 1 285 c.208delA c.(208-210)aafs p.K72fs BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TGATGAGGCGAAAAAAAAGGA 0.388 13 864 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 7 80 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.626 8 273 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 9 378 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 8 325 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 10 445 --- --- --- --- ANKRD50 57182 broad.mit.edu 37 4 125599951 125599952 + Frame_Shift_Ins INS - - A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr4:125599951_125599952insA ENST00000504087.1 - 3 1658_1659 c.621_622insT c.(619-624)tcccagfs p.Q208fs ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.Q29fs NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 208 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 GATAAGCTGGTAGACGTTTGTT 0.475 260 513 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128564917 128564917 + Frame_Shift_Del DEL A A - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr4:128564917delA ENST00000335251.5 + 2 491 c.388delA c.(388-390)aafs p.K131fs INTU_ENST00000296461.5_Frame_Shift_Del_p.K131fs NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 131 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 GCGCTGCAATAAAAAAAATAG 0.358 8 373 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 9 458 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 10 416 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr5:79970915delA ENST00000265081.6 + 7 1221 c.1141delA c.(1141-1143)aafs p.K383fs NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 383 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGTTAGGGACAAAAAAAAGGG 0.348 Mismatch excision repair (MMR) 10 793 --- --- --- --- ARSK 153642 broad.mit.edu 37 5 94922345 94922346 + Frame_Shift_Ins INS - - A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr5:94922345_94922346insA ENST00000380009.4 + 5 984_985 c.779_780insA c.(778-780)aaafs p.K260fs NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K 260 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) TCTTCTTATACAAAAAACTGCA 0.361 126 253 --- --- --- --- ZNF184 7738 broad.mit.edu 37 6 27420810 27420810 + Frame_Shift_Del DEL T T - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:27420810delT ENST00000211936.6 - 6 812 c.528delA c.(526-528)aafs p.K176fs ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTACAGGGCCTTTTTCCCAAC 0.408 7 1126 --- --- --- --- OR2J2 26707 broad.mit.edu 37 6 29141422 29141422 + Frame_Shift_Del DEL A A - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:29141422delA ENST00000377167.2 + 1 112 c.10delA c.(10-12)aafs p.K5fs NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 AATGATGATTAAAAAAAATGC 0.358 8 520 --- --- --- --- C6orf15 29113 broad.mit.edu 37 6 31079317 31079317 + Frame_Shift_Del DEL C C - rs147375238 byFrequency TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:31079317delC ENST00000259870.3 - 2 822 c.819delG c.(817-819)ggfs p.G273fs NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 273 Gly-rich. endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 GATTAATATTCCCCCAGCTGC 0.498 7 726 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31975223 31975224 + RNA INS - - T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:31975223_31975224insT ENST00000342991.6 + 0 1346_1347 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CTGGGCCGTGGTTTTTTTTGCT 0.614 8 691 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 8 667 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86332353 86332354 + Frame_Shift_Ins INS - - T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:86332353_86332354insT ENST00000355238.6 - 8 1060_1061 c.854_855insA c.(853-855)aagfs p.K285fs SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 285 RRM 2. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) AAAAGCCTCTGTTTTTTTTCTT 0.411 8 679 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129959602 129959603 + Frame_Shift_Ins INS - - T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 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 10 918 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 8 560 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr7:24705666delA ENST00000396475.2 + 9 1209 c.910delA c.(910-912)aafs p.K308fs MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 308 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TATAAGTAGCAAAAAAAAGAA 0.299 12 1006 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72685511 72685511 + RNA DEL T T - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr7:72685511delT ENST00000425256.1 - 0 120 NR_002164.1 aaaaaaaaaatagaaTTAATG 0.478 9 365 --- --- --- --- AC118138.2 0 broad.mit.edu 37 7 74776112 74776113 + RNA INS - - A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr7:74776112_74776113insA ENST00000420642.1 + 0 554 aaaaacaaaacaaaaaaaaaac 0.401 8 43 --- --- --- --- MYBL1 4603 broad.mit.edu 37 8 67488452 67488453 + Frame_Shift_Ins INS - - T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr8:67488452_67488453insT ENST00000522677.3 - 10 1669_1670 c.1259_1260insA c.(1258-1260)aacfs p.N420fs MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 420 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) CATTACAAGTGTTTTTTTTCCC 0.406 9 698 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 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 7 81 --- --- --- --- TMEM2 23670 broad.mit.edu 37 9 74300311 74300312 + Splice_Site INS - - A rs72019397 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr9:74300311_74300312insA ENST00000377044.4 - 24 4495 c.e24-2 TMEM2_ENST00000377066.5_Splice_Site|TMEM2_ENST00000396272.3_Splice_Site NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TGGTACTCCCTaaaaaaaaaaa 0.371 30 91 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 7 343 --- --- --- --- KIF20B 9585 broad.mit.edu 37 10 91498335 91498337 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr10:91498335_91498337delAAG ENST00000416354.1 + 20 3899_3901 c.3827_3829delAAG c.(3826-3831)aaa>a p.KE1276del KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_In_Frame_Del_p.KE1246del|KIF20B_ENST00000260753.4_In_Frame_Del_p.KE1206del|KIF20B_ENST00000394289.2_In_Frame_Del_p.KE1246del Q96Q89 KI20B_HUMAN kinesin family member 20B 1246 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 CTTCAATTAAAAGAAGAAGAAGA 0.276 7 292 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 9 481 --- --- --- --- RP11-360K13.1 0 broad.mit.edu 37 11 96514999 96514999 + RNA DEL A A - rs112766481 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr11:96514999delA ENST00000527528.1 + 0 158 CTTAGTTATTaaaaaaaaaaa 0.368 8 44 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 13 356 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 11 277 --- --- --- --- PPFIA2 8499 broad.mit.edu 37 12 81671195 81671195 + Frame_Shift_Del DEL T T - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr12:81671195delT ENST00000333447.7 - 26 3174 c.3175delA c.(3175-3177)gafs p.R1059fs PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000545296.2_Intron B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 970 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 AAACTTGTTCtttttttttta 0.333 14 36 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812693 122812694 + Frame_Shift_Ins INS - - T rs77289752 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr12:122812693_122812694insT ENST00000358808.2 - 16 3170_3171 c.3016_3017insA c.(3016-3018)aagfs p.K1006fs CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.K1006fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.K592fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.K971fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.K895fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.K1017fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1017 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) GTTGTGGCTTGTTTCCATTTTC 0.505 9 648 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 9 479 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88329794 88329796 + In_Frame_Del DEL CGG CGG - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr13:88329794_88329796delCGG ENST00000325089.6 + 2 2370_2372 c.2151_2153delCGG c.(2149-2154)tac>ta p.YG717del SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 717 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACAGCGTGTACGGCGGCGGCGGC 0.645 7 365 --- --- --- --- GPHN 10243 broad.mit.edu 37 14 67525542 67525542 + Frame_Shift_Del DEL T T - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr14:67525542delT ENST00000459628.1 + 11 1519 c.1129delT c.(1129-1131)ttfs p.F378fs GPHN_ENST00000543237.1_Intron|GPHN_ENST00000478722.1_Intron|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000544752.2_Intron|GPHN_ENST00000315266.5_Intron Q9NQX3 GEPH_HUMAN gephyrin 0 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) CTTTTCTTCATTTTTTTCCAA 0.323 T MLL AL 7 565 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 9 855 --- --- --- --- GPR65 0 broad.mit.edu 37 14 88477554 88477555 + Frame_Shift_Ins INS - - T TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr14:88477554_88477555insT ENST00000267549.3 + 2 921_922 c.363_364insT c.(361-366)aattttfs p.NF121fs RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 121 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 ACCCTTTGAAGTTTTTTTTCCT 0.426 7 1442 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 9 192 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 7 779 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 7 1704 --- --- --- --- SECISBP2L 9728 broad.mit.edu 37 15 49309051 49309051 + Frame_Shift_Del DEL T T - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:49309051delT ENST00000559471.1 - 10 1676 c.1413delA c.(1411-1413)aafs p.K471fs SECISBP2L_ENST00000261847.3_Frame_Shift_Del_p.K426fs NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 471 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 GTACCTGTAATTTTTTTTGCT 0.353 8 458 --- --- --- --- FAM214A 56204 broad.mit.edu 37 15 52901069 52901069 + Frame_Shift_Del DEL T T - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:52901069delT ENST00000261844.7 - 6 2194 c.2042delA c.(2041-2043)atfs p.N681fs FAM214A_ENST00000546305.2_Frame_Shift_Del_p.N688fs NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 681 TTTTGAGTCATTTTTTTTGGA 0.284 7 489 --- --- --- --- C15orf59 388135 broad.mit.edu 37 15 74032867 74032868 + Frame_Shift_Ins INS - - C TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr15:74032867_74032868insC ENST00000569673.1 - 3 1476_1477 c.272_273insG c.(271-273)gccfs p.A91fs C15orf59_ENST00000379822.4_Frame_Shift_Ins_p.A91fs|C15orf59_ENST00000558834.1_Intron Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 91 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GGTCAAAGGGGCCACCCATGCC 0.599 7 1253 --- --- --- --- Z97634.5 0 broad.mit.edu 37 16 437259 437260 + RNA DEL AT AT - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:437259_437260delAT ENST00000412293.1 + 0 521 NR_024453.2 CTAATTCTAAATATATATATAT 0.421 23 190 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 18 95 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:24807240delA ENST00000395799.3 + 9 3670 c.3541delA c.(3541-3543)aafs p.K1182fs TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1182 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTGAGTGGCAAAAAAAGGAG 0.398 11 1167 --- --- --- --- RABEP2 79874 broad.mit.edu 37 16 28931200 28931202 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:28931200_28931202delCTG ENST00000358201.4 - 3 925_927 c.337_339delCAG c.(337-339)del p.Q113del RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 113 Poly-Gln. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCTCACAGTCCTGCTGCTGCTGC 0.640 9 247 --- --- --- --- FHOD1 29109 broad.mit.edu 37 16 67267852 67267852 + Frame_Shift_Del DEL G G - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr16:67267852delG ENST00000258201.4 - 13 2001 c.1754delC c.(1753-1755)ctfs p.P587fs FHOD1_ENST00000567687.1_Frame_Shift_Del_p.P166fs NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 587 FH1.|Poly-Pro. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding p.P585fs*43(1) breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) AAGTGGGGGAGGGGGGGGTAC 0.622 21 52 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. 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) TCTTCCAGATGAGGAGGAGGAGG 0.453 9 195 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 7 210 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 8 949 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 10 549 --- --- --- --- SERPINB10 5273 broad.mit.edu 37 18 61584738 61584739 + Frame_Shift_Ins INS - - A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr18:61584738_61584739insA ENST00000238508.3 + 3 276_277 c.217_218insA c.(217-219)aaafs p.K73fs NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 p.R76fs*7(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) CCCTGAAAGTGAAAAAAAAAGG 0.282 7 93 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 12 845 --- --- --- --- MYH7B 57644 broad.mit.edu 37 20 33586211 33586212 + Frame_Shift_Del DEL AC AC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr20:33586211_33586212delAC ENST00000262873.7 + 31 4079_4080 c.3987_3988delAC c.(3985-3990)ctagfs p.LQ1329fs NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1287 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GTGGGCGACTACAGACGGAAAG 0.649 79 392 --- --- --- --- SLC12A5 57468 broad.mit.edu 37 20 44685140 44685142 + In_Frame_Del DEL AGA AGA - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr20:44685140_44685142delAGA ENST00000454036.1 + 23 3192_3194 c.3116_3118delAGA c.(3115-3120)gag>g p.EK1039del SLC12A5_ENST00000243964.3_In_Frame_Del_p.EK1016del NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 1039 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCGGTGGCAGAGAAGAATAAGGG 0.635 24 228 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 7 2107 --- --- --- --- TPTE 7179 broad.mit.edu 37 21 10944697 10944697 + Frame_Shift_Del DEL A A - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr21:10944697delA ENST00000298232.7 - 10 850 c.483delT c.(481-483)ttfs p.F161fs TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 179 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTTAATGTCAAAAAAAATGT 0.299 21 925 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 9 196 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 7 297 --- --- --- --- NF2 4771 broad.mit.edu 37 22 30050682 30050682 + Frame_Shift_Del DEL T T - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr22:30050682delT ENST00000338641.4 + 5 925 c.484delT c.(484-486)ttfs p.F162fs NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 162 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 CAAGCGGGGATTTTTGGCCCA 0.423 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 7 900 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 8 608 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 7 10 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 9 111 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154578865 154578865 + RNA DEL G G - rs150846040 by1000genomes TCGA-3A-A9J0-01A-11D-A40W-08 TCGA-3A-A9J0-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a6c492b-d3dc-4d8e-bb91-fef812140b6e 36b866cd-0189-43dc-8ebb-5839e55f48e1 g.chrX:154578865delG ENST00000412436.1 - 0 98 RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA TTTTCTCTCTGTTTTTTTTTT 0.418 4 9 --- --- --- ---