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 RSPH6A 81492 broad.mit.edu 37 19 46303729 46303729 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:46303729C>T ENST00000221538.3 - 5 2033 c.1891G>A c.(1891-1893)Ggg>Agg p.G631R RSPH6A_ENST00000597055.1_Missense_Mutation_p.G631R|RSPH6A_ENST00000600188.1_Missense_Mutation_p.G367R NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 631 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GCATAGGCCCCGGGCCAGAGG 0.627000 30 23 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44590904 44590904 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:44590904G>C ENST00000421176.3 + 5 1489 c.1273G>C c.(1273-1275)Gaa>Caa p.E425Q ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) TAGAGAAGAAGAACTGTATAA 0.423000 31 110 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72412579 72412579 + Nonsense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:72412579C>T ENST00000395270.1 + 14 2293 c.1252C>T c.(1252-1254)Cag>Tag p.Q418* POM121_ENST00000257622.4_Nonsense_Mutation_p.Q418*|POM121_ENST00000446813.1_Nonsense_Mutation_p.Q418*|POM121_ENST00000434423.2_Nonsense_Mutation_p.Q683*|POM121_ENST00000358357.3_Nonsense_Mutation_p.Q418* NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 683 Pore side (Potential).|Ser-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) TCCAACCCTTCAGGCAGAGAC 0.607000 5 89 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40843462 40843462 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:40843462G>A ENST00000254691.5 + 2 691 c.492G>A c.(490-492)aaG>aaA p.K164K CARD6_ENST00000381677.3_Silent_p.K164K NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 164 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CTGCCAGGAAGAATGAGAAGG 0.383000 9 32 0 0 1 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291302 1291302 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:1291302G>A ENST00000461509.2 + 2 425 c.231G>A c.(229-231)ctG>ctA p.L77L TPSAB1_ENST00000338844.3_Silent_p.L70L P20231 TRYB2_HUMAN tryptase alpha/beta 1 70 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity p.L70L(1) NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) AGTGGGTGCTGACCGCAGCGC 0.706000 5 58 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33658336 33658336 + Silent SNP A A G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:33658336A>G ENST00000504830.1 - 7 1478 c.1143T>C c.(1141-1143)gaT>gaC p.D381D ADAMTS12_ENST00000352040.3_Silent_p.D381D|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 381 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGAGTCCCGAATCTTCATTGA 0.502000 HNSCC(64;0.19) 23 84 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101484276 101484276 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:101484276C>G ENST00000341893.3 + 11 3231 c.2479C>G c.(2479-2481)Cct>Gct p.P827A CEP97_ENST00000327230.4_Missense_Mutation_p.P853A|CEP97_ENST00000494050.1_Missense_Mutation_p.P768A Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 827 centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 CATATCTCCTCCTTTGCAAGG 0.413000 29 156 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3117909 3117909 + Silent SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:3117909C>G ENST00000355072.5 + 8 1132 c.987C>G c.(985-987)gtC>gtG p.V329V NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 329 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AGCAGCAGGTCAAGGACACAA 0.537000 26 156 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137802542 137802542 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:137802542G>A ENST00000239938.4 + 2 676 c.404G>A c.(403-405)gGc>gAc p.G135D NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 135 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) ACCTATACTGGCCGCTTTTCC 0.582000 75 61 0 0 1 0 0 SNHG1 23642 broad.mit.edu 37 11 62622490 62622490 + RNA SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:62622490C>A ENST00000363981.1 - 0 65 NR_002563.1 TCTCACTTCTCAGTAGTAAGA 0.388000 19 100 0.000295444 0.000297821 1 1 0 DNAH17 8632 broad.mit.edu 37 17 76425363 76425363 + Missense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:76425363G>T ENST00000389840.5 - 76 12350 c.12226C>A c.(12226-12228)Cgc>Agc p.R4076S DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R4077S dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AAAAGGTAGCGGAGATCGTCC 0.592000 35 12 2.75727e-19 2.99652e-19 1 1 0 PDGFRA 5156 broad.mit.edu 37 4 55141141 55141141 + Splice_Site SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:55141141G>A ENST00000257290.5 + 12 2117 c.e12+1 FIP1L1_ENST00000507166.1_Splice_Site NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTAGTGCTTGGTAAGTTCCAT 0.448000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 30 25 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112541926 112541926 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:112541926G>A ENST00000341068.3 - 41 5741 c.4969C>T c.(4969-4971)Ctt>Ttt p.L1657F NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1657 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 AGTTCTGGAAGAAGGGTAGGA 0.443000 10 45 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51857288 51857288 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr15:51857288G>C ENST00000251076.5 - 4 648 c.361C>G c.(361-363)Caa>Gaa p.Q121E DMXL2_ENST00000543779.2_Missense_Mutation_p.Q121E|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q121E|DMXL2_ENST00000560421.1_5'UTR NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 121 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TAAATACCTTGAGGATCCCAT 0.289000 7 4 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102552188 102552188 + Nonsense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr14:102552188C>A ENST00000334701.7 - 4 1083 c.802G>T c.(802-804)Gag>Tag p.E268* HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.E146*|HSP90AA1_ENST00000441629.2_Intron NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 146 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) GTTACTTTCTCAGCAACCAAA 0.478000 44 20 2.77807e-22 3.04554e-22 1 1 0 MEDAG 84935 broad.mit.edu 37 13 31495943 31495943 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr13:31495943G>C ENST00000380482.4 + 4 1072 c.747G>C c.(745-747)agG>agC p.R249S TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA NM_032849.3 NP_116238 mesenteric estrogen-dependent adipogenesis TAATCCGAAGGAGCAGTTTCT 0.353000 23 17 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110932610 110932610 + Nonstop_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:110932610G>T ENST00000265171.5 + 24 4068 c.3623G>T c.(3622-3624)tGa>tTa p.*1208L EGF_ENST00000509793.1_Nonstop_Mutation_p.*1166L|EGF_ENST00000503392.1_Nonstop_Mutation_p.*1167L NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 0 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) CTGACTCAGTGAAAACTGGAA 0.438000 34 63 9.80977e-26 1.07778e-25 1 1 0 ZNF28 7576 broad.mit.edu 37 19 53304815 53304815 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:53304815G>A ENST00000438150.2 - 2 1017 c.124C>T c.(124-126)Cat>Tat p.H42Y ZNF28_ENST00000360272.4_Missense_Mutation_p.H42Y|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000414252.2_Missense_Mutation_p.H42Y|ZNF28_ENST00000339844.6_3'UTR|ZNF28_ENST00000457749.2_Missense_Mutation_p.H95Y P17035 ZNF28_HUMAN zinc finger protein 28 95 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TGGAAGCCATGAATGTCTTTC 0.428000 40 144 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148947564 148947564 + Silent SNP C C T rs138413836 byFrequency TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:148947564C>T ENST00000335870.2 + 2 467 c.339C>T c.(337-339)aaC>aaT p.N113N NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GGCTGGAGAACGTGGAGAACC 0.617000 69 162 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113353731 113353731 + Missense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:113353731G>T ENST00000458497.1 + 11 3307 c.3028G>T c.(3028-3030)Gca>Tca p.A1010S ALPK1_ENST00000504176.2_Missense_Mutation_p.A932S|ALPK1_ENST00000177648.9_Missense_Mutation_p.A1010S NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1010 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) ACTCCACCGAGCACATAGTAA 0.463000 38 13 7.63091e-17 8.25721e-17 1 1 0 LRP2 4036 broad.mit.edu 37 2 170063152 170063152 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:170063152G>C ENST00000263816.3 - 39 7363 c.7078C>G c.(7078-7080)Ctg>Gtg p.L2360V NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2360 EGF-like 9. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AATCCAGGCAGAGCAAAGCAG 0.493000 9 39 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138968605 138968605 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:138968605C>A ENST00000473989.3 + 15 2954 c.2954C>A c.(2953-2955)tCt>tAt p.S985Y UBN2_ENST00000288561.8_Missense_Mutation_p.S902Y NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 CTTCCCTTATCTACCCCCTCA 0.483000 18 45 1.33834e-09 1.40863e-09 1 1 0 HMP19 51617 broad.mit.edu 37 5 173491291 173491291 + Missense_Mutation SNP C C G rs139341537 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:173491291C>G ENST00000303177.3 + 3 448 c.186C>G c.(184-186)ttC>ttG p.F62L NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Missense_Mutation_p.F62L NM_015980.4 NP_057064.1 AAGGGAAGTTCCGGGTGCCGA 0.473000 34 27 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2297889 2297889 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr20:2297889C>T ENST00000381458.5 + 6 908 c.845C>T c.(844-846)aCa>aTa p.T282I TGM3_ENST00000463090.1_3'UTR NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 282 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) ACCCTCAACACAGGTACCTTG 0.577000 22 96 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65130323 65130323 + Missense_Mutation SNP C C A rs145700540 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:65130323C>A ENST00000371073.2 + 15 2237 c.2237C>A c.(2236-2238)tCc>tAc p.S746Y CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.S695Y Q5VU97 CAHD1_HUMAN cache domain containing 1 746 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TATCCTGGTTCCCTCATGGAC 0.458000 37 76 2.66277e-13 2.85052e-13 1 1 0 SEC24C 9632 broad.mit.edu 37 10 75528902 75528902 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:75528902C>G ENST00000339365.2 + 18 2578 c.2416C>G c.(2416-2418)Ctc>Gtc p.L806V SEC24C_ENST00000345254.4_Missense_Mutation_p.L806V|SEC24C_ENST00000411652.2_Missense_Mutation_p.L687V|SEC24C_ENST00000535742.1_Missense_Mutation_p.L54V|SEC24C_ENST00000540668.1_Missense_Mutation_p.L54V|SEC24C_ENST00000496827.1_3'UTR NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 806 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) GAGCGGAGCTCTCCTGCAGGT 0.552000 4 15 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179401446 179401446 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:179401446C>T ENST00000367618.3 + 15 1919 c.1532C>T c.(1531-1533)tCa>tTa p.S511L AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.S511L NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 511 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 ATATTTAATTCAGTTCTTTTA 0.323000 3 2 0 0 1 0 0 HOXD13 3239 broad.mit.edu 37 2 176958222 176958222 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:176958222C>T ENST00000392539.3 + 1 604 c.604C>T c.(604-606)Cac>Tac p.H202Y NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 202 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) CCCTTACCAGCACGTGCCCGG 0.642000 T NUP98 AML* 15 53 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11216117 11216117 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:11216117G>C ENST00000558518.1 + 4 722 c.535G>C c.(535-537)Gag>Cag p.E179Q LDLR_ENST00000557933.1_Missense_Mutation_p.E179Q|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.E179Q|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.E138Q NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 179 LDL-receptor class A 4. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) TGGCTCGGATGAGTGGCCGCA 0.632000 51 34 0 0 1 0 0 ZNF615 284370 broad.mit.edu 37 19 52496424 52496424 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:52496424C>T ENST00000602063.1 - 6 2254 c.1905G>A c.(1903-1905)aaG>aaA p.K635K ZNF615_ENST00000391795.3_Silent_p.K640K|ZNF615_ENST00000594083.1_Silent_p.K646K|ZNF615_ENST00000376716.5_Silent_p.K635K|ZNF615_ENST00000598071.1_Silent_p.K646K Q8N8J6 ZN615_HUMAN zinc finger protein 615 635 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GGCATGTCTTCTTCCTGAAGG 0.388000 62 61 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830047 61830047 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:61830047G>A ENST00000280772.2 - 37 10783 c.10592C>T c.(10591-10593)cCt>cTt p.P3531L ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGTTTTAAAAGGAGTGGCAAA 0.418000 19 68 0 0 1 0 0 HDHD1 8226 broad.mit.edu 37 X 6995398 6995398 + Missense_Mutation SNP T T C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chrX:6995398T>C ENST00000381077.5 - 3 449 c.373A>G c.(373-375)Agc>Ggc p.S125G HDHD1_ENST00000412827.2_Missense_Mutation_p.S82G|HDHD1_ENST00000424830.2_Missense_Mutation_p.S148G|HDHD1_ENST00000540122.1_Missense_Mutation_p.S125G NM_001178136.1|NM_012080.4 NP_001171607.1|NP_036212.3 Q08623 HDHD1_HUMAN haloacid dehalogenase-like hydrolase domain containing 1 125 nucleotide metabolic process metal ion binding|phosphatase activity breast(2)|large_intestine(1)|lung(3) 6 TTGTGGCGGCTTGTCTTCATA 0.577000 34 4 0 0 1 0 0 LIMA1 51474 broad.mit.edu 37 12 50575725 50575725 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:50575725G>A ENST00000547825.1 - 4 1599 c.330C>T c.(328-330)atC>atT p.I110I LIMA1_ENST00000552823.1_Silent_p.I252I|LIMA1_ENST00000552491.1_Silent_p.I109I|LIMA1_ENST00000552783.1_Silent_p.I253I|LIMA1_ENST00000394943.3_Silent_p.I413I|LIMA1_ENST00000552909.1_Silent_p.I251I|LIMA1_ENST00000341247.4_Silent_p.I412I NM_001243775.1 NP_001230704.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 412 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 GGAAGCAGCTGATGTGAAACA 0.488000 22 42 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159481497 159481497 + Silent SNP G G A rs144359585 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:159481497G>A ENST00000389757.3 + 7 836 c.711G>A c.(709-711)ctG>ctA p.L237L PKP4_ENST00000389759.3_Silent_p.L237L NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 237 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 GGGGGTCTCTGAGAACTTCTC 0.532000 HNSCC(62;0.18) 18 46 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83544746 83544746 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:83544746C>G ENST00000398309.2 - 12 1788 c.1318G>C c.(1318-1320)Gat>Cat p.D440H DLG2_ENST00000531015.1_Missense_Mutation_p.D407H|DLG2_ENST00000532653.1_Missense_Mutation_p.D440H|DLG2_ENST00000376104.2_Missense_Mutation_p.D545H|DLG2_ENST00000524982.1_Missense_Mutation_p.D440H|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000543673.1_Missense_Mutation_p.D545H|DLG2_ENST00000418306.2_Missense_Mutation_p.D337H|DLG2_ENST00000330014.6_Missense_Mutation_p.D379H|DLG2_ENST00000537455.1_Missense_Mutation_p.D194H|DLG2_ENST00000398301.2_Missense_Mutation_p.D479H|DLG2_ENST00000280241.8_Missense_Mutation_p.D479H NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 440 PDZ 3. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CCTTCTCCATCTTCCCCACCG 0.522000 13 57 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189026044 189026044 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:189026044C>G ENST00000512729.1 - 2 456 c.82G>C c.(82-84)Gaa>Caa p.E28Q TRIML2_ENST00000536972.1_Missense_Mutation_p.E78Q|TRIML2_ENST00000326754.3_Missense_Mutation_p.E28Q NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 28 ligase activity p.E28*(1) central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TTAGCTGCTTCAAGTTTCTCC 0.393000 37 20 0 0 1 0 0 GAS2L1 10634 broad.mit.edu 37 22 29707996 29707996 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr22:29707996G>A ENST00000471961.1 + 5 2603 c.1555G>A c.(1555-1557)Ggc>Agc p.G519S GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000407647.2_Missense_Mutation_p.G519S|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000403764.1_Missense_Mutation_p.G519S|GAS2L1_ENST00000407854.1_Missense_Mutation_p.G519S Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 365 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 CAGCTGTTCCGGCGCCTGGAA 0.692000 40 70 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 179966062 179966062 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:179966062C>T ENST00000367607.3 + 6 1188 c.770C>T c.(769-771)tCt>tTt p.S257F NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 257 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CTAACTGACTCTTCTCCATCC 0.378000 15 44 0 0 1 0 0 MTO1 25821 broad.mit.edu 37 6 74191780 74191780 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:74191780C>T ENST00000498286.1 + 8 1555 c.1278C>T c.(1276-1278)atC>atT p.I426I MTO1_ENST00000370300.4_Silent_p.I451I|MTO1_ENST00000415954.2_Silent_p.I466I|MTO1_ENST00000370305.1_Silent_p.I377I Q9Y2Z2 MTO1_HUMAN mitochondrial tRNA translation optimization 1 451 tRNA processing mitochondrion flavin adenine dinucleotide binding p.I451I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1) 27 TAGCCGGAATCAACGCCAGTC 0.463000 5 83 0 0 1 0 0 DNAJA1 3301 broad.mit.edu 37 9 33034305 33034305 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr9:33034305G>A ENST00000330899.4 + 6 918 c.735G>A c.(733-735)caG>caA p.Q245Q DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Silent_p.Q88Q NM_001539.2 NP_001530.1 P31689 DNJA1_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 1 245 protein folding|response to heat|response to unfolded protein membrane ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding large_intestine(2)|ovary(1)|skin(3) 6 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.102) TGTTAGATCAGAAGGACCATG 0.368000 24 7 0 0 1 0 0 FAM189B 10712 broad.mit.edu 37 1 155220937 155220937 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:155220937G>C ENST00000361361.2 - 8 1422 c.913C>G c.(913-915)Cag>Gag p.Q305E FAM189B_ENST00000368368.3_Missense_Mutation_p.Q287E|FAM189B_ENST00000350210.2_Missense_Mutation_p.Q209E|FAM189B_ENST00000472550.1_5'UTR NM_006589.2 NP_006580.2 P81408 F189B_HUMAN family with sequence similarity 189, member B 305 integral to membrane WW domain binding breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 TCGTGAAGCTGAGGGTCAAAG 0.567000 OREG0013858 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 11 0 0 1 0 0 DEPDC1 55635 broad.mit.edu 37 1 68954598 68954598 + Splice_Site SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:68954598C>G ENST00000456315.2 - 4 705 c.e4+1 DEPDC1_ENST00000370966.5_Splice_Site NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) TTTTATCTTACTAGATCAGAA 0.284000 12 17 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118344537 118344537 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:118344537C>T ENST00000534358.1 + 3 2686 c.2663C>T c.(2662-2664)tCa>tTa p.S888L KMT2A_ENST00000389506.5_Missense_Mutation_p.S888L|KMT2A_ENST00000354520.4_Missense_Mutation_p.S888L NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A aagcgggagtcaaggaaagag 0.468000 23 15 0 0 1 0 0 LHX9 56956 broad.mit.edu 37 1 197898167 197898167 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:197898167G>A ENST00000367390.3 + 6 972 c.945G>A c.(943-945)agG>agA p.R315R LHX9_ENST00000561173.1_Intron|LHX9_ENST00000367391.1_Intron|LHX9_ENST00000337020.2_Intron|LHX9_ENST00000367387.4_Silent_p.R324R NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 324 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 AATTCAGAAGGAACCTTTTGC 0.498000 14 50 0 0 1 0 0 PPP2CA 5515 broad.mit.edu 37 5 133537700 133537700 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:133537700C>T ENST00000481195.1 - 3 605 c.325G>A c.(325-327)Gaa>Aaa p.E109K CTD-2410N18.5_ENST00000519718.1_Intron NM_002715.2 NP_002706.1 protein phosphatase 2, catalytic subunit, alpha isozyme endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTGATGCGTTCACGGTAACGA 0.323000 12 21 0 0 1 0 0 TCP10L2 401285 broad.mit.edu 37 6 167591999 167591999 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:167591999C>T ENST00000366832.2 + 5 757 c.626C>T c.(625-627)gCa>gTa p.A209V NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 209 endometrium(1)|kidney(2)|lung(3) 6 ACTCCCGGTGCAGAAAGACGG 0.532000 16 103 0 0 1 0 0 LPAL2 80350 broad.mit.edu 37 6 160908384 160908384 + RNA SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:160908384C>T ENST00000335388.5 - 0 588 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) GCAGTACTCCCACCTGACTTT 0.493000 15 49 0 0 1 0 0 USP9Y 8287 broad.mit.edu 37 Y 14952195 14952195 + Missense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chrY:14952195G>T ENST00000338981.3 + 36 6688 c.5743G>T c.(5743-5745)Gat>Tat p.D1915Y USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 1915 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AATGGATGATGATGAAGAAAT 0.363000 50 6 1.89013e-27 2.0858e-27 1 1 0 ZNF449 203523 broad.mit.edu 37 X 134494183 134494183 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chrX:134494183C>T ENST00000339249.4 + 5 879 c.739C>T c.(739-741)Cca>Tca p.P247S NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 247 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GACTATGTATCCATTTATTGT 0.368000 17 39 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71782178 71782178 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:71782178G>C ENST00000299980.4 - 16 2042 c.1601C>G c.(1600-1602)tCc>tGc p.S534C AP1G1_ENST00000393512.3_Missense_Mutation_p.S537C|AP1G1_ENST00000433195.2_Missense_Mutation_p.S557C|AP1G1_ENST00000423132.2_Missense_Mutation_p.S537C|AP1G1_ENST00000569748.1_Missense_Mutation_p.S534C NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 534 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) GAATCGAGTGGAAAGCTTCAT 0.358000 6 29 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87943114 87943114 + Nonsense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:87943114C>T ENST00000369577.3 + 5 653 c.610C>T c.(610-612)Cag>Tag p.Q204* ZNF292_ENST00000339907.4_Nonsense_Mutation_p.Q199* NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q204*(1)|p.Q59*(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CAAAACAAATCAGTTAAGTCA 0.333000 27 25 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136321320 136321320 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr9:136321320C>G ENST00000371929.3 + 26 4142 c.3698C>G c.(3697-3699)tCt>tGt p.S1233C ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.S1146C|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.S29C|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.S1177C NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1233 CUB 1. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CTTGAGAGTTCTCTCAACTGC 0.637000 15 35 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16893787 16893787 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:16893787C>G ENST00000430580.2 - 25 3613 c.2726G>C c.(2725-2727)aGa>aCa p.R909T NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 909 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGAATAACATCTATCCAGTGA 0.488000 51 1173 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113241400 113241400 + Missense_Mutation SNP A A G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:113241400A>G ENST00000369644.1 + 18 3433 c.2404A>G c.(2404-2406)Aag>Gag p.K802E MOV10_ENST00000413052.2_Missense_Mutation_p.K858E|MOV10_ENST00000357443.2_Missense_Mutation_p.K858E|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.K858E Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 858 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GGATGACATCAAGGACTTGAA 0.552000 41 88 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158908324 158908324 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:158908324G>C ENST00000368140.1 + 3 648 c.403G>C c.(403-405)Gga>Cga p.G135R PYHIN1_ENST00000368135.4_Missense_Mutation_p.G135R|PYHIN1_ENST00000368138.3_Missense_Mutation_p.G126R|PYHIN1_ENST00000392252.3_Missense_Mutation_p.G126R|PYHIN1_ENST00000392254.2_Missense_Mutation_p.G135R NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 135 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) GGAGACTCTTGGACCTCAGGT 0.498000 36 16 0 0 1 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135093396 135093396 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:135093396G>A ENST00000368563.2 - 18 2939 c.2583C>T c.(2581-2583)ttC>ttT p.F861F TUBGCP2_ENST00000543663.1_Silent_p.F889F|TUBGCP2_ENST00000252936.3_Silent_p.F861F|TUBGCP2_ENST00000417178.2_Silent_p.F731F|TUBGCP2_ENST00000368562.1_Silent_p.F454F NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 861 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) AGAAACCATTGAAGTCAAGCC 0.657000 14 5 0 0 1 0 0 PUS3 83480 broad.mit.edu 37 11 125765330 125765330 + Nonsense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:125765330G>A ENST00000227474.3 - 3 830 c.733C>T c.(733-735)Caa>Taa p.Q245* HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Nonsense_Mutation_p.Q245* NM_001271985.1|NM_031307.3 NP_001258914.1|NP_112597 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 245 nucleus RNA binding NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) AGCTGTACTTGAGCAGATAGA 0.458000 18 51 0 0 1 0 0 RNF111 54778 broad.mit.edu 37 15 59323899 59323899 + Nonsense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr15:59323899C>G ENST00000348370.4 + 2 1311 c.878C>G c.(877-879)tCa>tGa p.S293* RNF111_ENST00000557998.1_Nonsense_Mutation_p.S293*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.S293*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.S293*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.S293* NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 293 Interaction with AXIN1.|Ser-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) GCTGTTCCCTCAGGTAAAAAT 0.368000 25 50 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44867897 44867897 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:44867897G>C ENST00000326047.4 + 22 2880 c.2731G>C c.(2731-2733)Gaa>Caa p.E911Q KIF15_ENST00000425755.1_Missense_Mutation_p.E546Q NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 911 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) GGCAGAAAAAGAACGCAATAA 0.303000 13 22 0 0 1 0 0 FAM57B 83723 broad.mit.edu 37 16 30038107 30038107 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:30038107G>A ENST00000380495.4 - 3 998 c.267C>T c.(265-267)atC>atT p.I89I FAM57B_ENST00000279389.4_Silent_p.I39I|FAM57B_ENST00000564806.1_Silent_p.I39I NM_031478.4 NP_113666.2 Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 89 TLC. endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 ACATGGCGTAGATGTCGTAGA 0.617000 9 44 0 0 1 0 0 CDK19 23097 broad.mit.edu 37 6 110988759 110988759 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:110988759G>A ENST00000368911.3 - 4 513 c.334C>T c.(334-336)Cgt>Tgt p.R112C CDK19_ENST00000323817.3_Missense_Mutation_p.R52C NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 112 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding p.R112C(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 TTTGATGCACGGTGAAACTTA 0.308000 12 49 0 0 1 0 0 QRSL1 55278 broad.mit.edu 37 6 107096958 107096958 + Nonsense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:107096958C>T ENST00000369046.4 + 5 543 c.439C>T c.(439-441)Caa>Taa p.Q147* QRSL1_ENST00000369044.1_Nonsense_Mutation_p.Q147* NM_018292.4 NP_060762.3 Q9H0R6 QRSL1_HUMAN glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 147 Q -> R (in Ref. 1; CAB66614). translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) TTATTCAAAACAATATAGAGA 0.438000 17 29 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113353729 113353729 + Missense_Mutation SNP G G T rs141398762 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:113353729G>T ENST00000458497.1 + 11 3305 c.3026G>T c.(3025-3027)cGa>cTa p.R1009L ALPK1_ENST00000504176.2_Missense_Mutation_p.R931L|ALPK1_ENST00000177648.9_Missense_Mutation_p.R1009L NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1009 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CAACTCCACCGAGCACATAGT 0.463000 40 12 2.24893e-16 2.42827e-16 1 1 0 NAA16 79612 broad.mit.edu 37 13 41941684 41941684 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr13:41941684G>A ENST00000379406.3 + 14 1973 c.1649G>A c.(1648-1650)aGa>aAa p.R550K NAA16_ENST00000497143.1_3'UTR NM_024561.4 NP_078837.3 Q6N069 NAA16_HUMAN N(alpha)-acetyltransferase 16, NatA auxiliary subunit 550 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 ATACTCAGAAGACATGCCTTT 0.358000 4 29 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169176889 169176889 + Missense_Mutation SNP T T C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:169176889T>C ENST00000393743.3 - 26 3821 c.3530A>G c.(3529-3531)aAa>aGa p.K1177R DDX60_ENST00000505393.1_5'UTR NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1177 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TATGGATTTTTTAACTTTTCG 0.358000 15 6 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47960819 47960819 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:47960819G>A ENST00000236877.6 - 3 1103 c.708C>T c.(706-708)ttC>ttT p.F236F SLC8A2_ENST00000542837.1_5'UTR|SLC8A2_ENST00000539381.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 236 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CGCACACCGGGAAGAAGACCA 0.677000 8 39 0 0 1 0 0 MAGED2 10916 broad.mit.edu 37 X 54838641 54838641 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chrX:54838641C>G ENST00000375068.1 + 7 1275 c.1042C>G c.(1042-1044)Ctt>Gtt p.L348V MAGED2_ENST00000218439.4_Missense_Mutation_p.L348V|MAGED2_ENST00000375058.1_Missense_Mutation_p.L348V|MAGED2_ENST00000396224.1_Missense_Mutation_p.L348V|MAGED2_ENST00000375053.2_Missense_Mutation_p.L348V|MAGED2_ENST00000347546.4_Missense_Mutation_p.L330V|MAGED2_ENST00000375062.4_Missense_Mutation_p.L263V|MAGED2_ENST00000375060.1_Missense_Mutation_p.L263V Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 348 MAGE. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 CTTGTACATTCTTCTCAGCAC 0.493000 10 6 0 0 1 0 0 KRT10 3858 broad.mit.edu 37 17 38975102 38975102 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:38975102G>C ENST00000269576.5 - 7 1694 c.1685C>G c.(1684-1686)tCc>tGc p.S562C NM_000421.3 NP_000412 P13645 K1C10_HUMAN keratin 10 562 Gly-rich.|Ser-rich.|Tail. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) GCCTCCGCTGGAgctgccgcc 0.677000 14 10 0 0 1 0 0 YY1AP1 55249 broad.mit.edu 37 1 155629567 155629567 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:155629567G>A ENST00000368340.5 - 10 2596 c.2488C>T c.(2488-2490)Ctg>Ttg p.L830L YY1AP1_ENST00000404643.1_Silent_p.L692L|YY1AP1_ENST00000347088.5_Silent_p.L712L|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Silent_p.L701L|YY1AP1_ENST00000368339.5_Silent_p.L850L|YY1AP1_ENST00000407221.1_Silent_p.L681L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000359205.5_Silent_p.L701L|YY1AP1_ENST00000295566.4_Silent_p.L758L|YY1AP1_ENST00000535662.1_Silent_p.L558L|YY1AP1_ENST00000368330.2_Silent_p.L712L|YY1AP1_ENST00000311573.5_Silent_p.L681L|YY1AP1_ENST00000355499.4_Silent_p.L712L NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AGCGGCTCCAGAGCTTGCCTT 0.532000 27 97 0 0 1 0 0 LMOD2 442721 broad.mit.edu 37 7 123302493 123302493 + Missense_Mutation SNP A A G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:123302493A>G ENST00000458573.2 + 2 1010 c.853A>G c.(853-855)Atc>Gtc p.I285V LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 285 cytoskeleton actin binding|tropomyosin binding GGGAAAGGGGATCCTGGCCAT 0.537000 4 86 0 0 1 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77042772 77042772 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:77042772G>C ENST00000339142.2 + 4 846 c.291G>C c.(289-291)ttG>ttC p.L97F C1QTNF1_ENST00000580454.1_Missense_Mutation_p.L97F|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.L107F|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.L97F|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.L15F|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.L97F|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.L97F|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.L97F|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.L15F|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.L97F NM_198593.3 NP_940995.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 97 collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) TCACTATCTTGAAAGGTCAGA 0.632000 OREG0024791 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 111 0 0 1 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 99003770 99003770 + Silent SNP A A T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:99003770A>T ENST00000453547.2 - 8 1139 c.1140T>A c.(1138-1140)gtT>gtA p.V380V ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.V380V|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.V351V|ARHGAP19_ENST00000371027.1_Silent_p.V371V|ARHGAP19_ENST00000358531.4_Silent_p.V380V|ARHGAP19_ENST00000355366.5_Silent_p.V371V GCATATCATGAACGTGTTGAA 0.493000 38 28 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28420727 28420727 + Silent SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr15:28420727C>G ENST00000261609.7 - 64 9870 c.9762G>C c.(9760-9762)ctG>ctC p.L3254L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3254 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TCTTCCCTCTCAGCCCTTCCA 0.642000 7 18 0 0 1 0 0 ARFGAP1 55738 broad.mit.edu 37 20 61919026 61919026 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr20:61919026G>A ENST00000370283.4 + 13 1162 c.1022G>A c.(1021-1023)cGc>cAc p.R341H ARFGAP1_ENST00000519273.2_Missense_Mutation_p.R228H|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.R275H|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.R296H|ARFGAP1_ENST00000370275.4_3'UTR|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.R349H NM_018209.2 NP_060679.1 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating protein 1 341 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) ACCAAGACCCGCAAGTCCCCG 0.617000 5 13 0 0 1 0 0 C16orf87 388272 broad.mit.edu 37 16 46836867 46836867 + Silent SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:46836867G>C ENST00000394806.2 - 3 291 c.279C>G c.(277-279)ctC>ctG p.L93L C16orf87_ENST00000285697.4_Silent_p.L154L Q6PH81 CP087_HUMAN chromosome 16 open reading frame 87 154 large_intestine(4)|urinary_tract(1) 5 ACAAGTATCAGAGAATAAGTC 0.358000 11 25 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12460348 12460348 + Silent SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:12460348G>T ENST00000358136.3 + 61 11875 c.11745G>T c.(11743-11745)gtG>gtT p.V3915V VPS13D_ENST00000356315.4_Silent_p.V3890V|VPS13D_ENST00000496628.1_3'UTR NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3914 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCAACGCAGTGAAGTTCCCCA 0.537000 13 34 1.5842e-08 1.65351e-08 1 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43944794 43944794 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:43944794G>A ENST00000389420.3 - 2 370 c.371C>T c.(370-372)tCg>tTg p.S124L ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S124L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 124 proteinaceous extracellular matrix zinc ion binding p.S124*(2) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GCGCAGGTCCGAGGGCCCTGC 0.667000 17 15 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190592617 190592617 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:190592617G>A ENST00000520309.1 + 13 2759 c.2671G>A c.(2671-2673)Gag>Aag p.E891K ANKAR_ENST00000281412.6_Missense_Mutation_p.E666K|ANKAR_ENST00000438402.2_Missense_Mutation_p.E891K|ANKAR_ENST00000431575.2_Missense_Mutation_p.E820K|ANKAR_ENST00000313581.4_Missense_Mutation_p.E891K NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 891 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TGCAATTGCTGAGGTTGGGCG 0.383000 14 50 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47897389 47897389 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:47897389C>T ENST00000289672.2 - 28 4454 c.4404G>A c.(4402-4404)gaG>gaA p.E1468E NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1468 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGGTCCGGAACTCCATCTGCC 0.493000 13 41 0 0 1 0 0 ZFP2 80108 broad.mit.edu 37 5 178359501 178359501 + Missense_Mutation SNP A A T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:178359501A>T ENST00000361362.2 + 5 1717 c.1187A>T c.(1186-1188)tAc>tTc p.Y396F ZFP2_ENST00000523286.1_Missense_Mutation_p.Y396F|ZFP2_ENST00000520301.1_Missense_Mutation_p.Y396F|ZFP2_ENST00000503510.2_Missense_Mutation_p.Y396F NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) CAGAGTGCTTACCTTATTGAA 0.423000 20 24 0 0 1 0 0 UBFD1 56061 broad.mit.edu 37 16 23570965 23570965 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:23570965G>A ENST00000395878.3 + 3 913 c.532G>A c.(532-534)Gag>Aag p.E178K UBFD1_ENST00000567212.1_Missense_Mutation_p.E169K|UBFD1_ENST00000219638.4_Missense_Mutation_p.E402K|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000567264.1_Missense_Mutation_p.E178K NM_019116.2 NP_061989.2 O14562 UBFD1_HUMAN ubiquitin family domain containing 1 178 endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GBM - Glioblastoma multiforme(48;0.0331) AAAGGCCGAAGAGAACAAGAA 0.507000 11 72 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60039055 60039055 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:60039055G>A ENST00000397786.2 - 22 5226 c.5150C>T c.(5149-5151)tCg>tTg p.S1717L NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1717 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GGTAAAGGCCGAAAAAGCCAG 0.443000 35 133 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105769096 105769096 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:105769096G>A ENST00000393127.2 + 7 1274 c.828G>A c.(826-828)atG>atA p.M276I GRIA4_ENST00000282499.5_Missense_Mutation_p.M276I|GRIA4_ENST00000393125.2_Missense_Mutation_p.M276I|GRIA4_ENST00000530497.1_Missense_Mutation_p.M276I|GRIA4_ENST00000525187.1_Missense_Mutation_p.M276I|GRIA4_ENST00000428631.2_Missense_Mutation_p.M276I NM_001077243.2 NP_001070711 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 276 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TCAAACTAATGGATCGCTGGA 0.363000 15 13 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23415145 23415145 + Nonsense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:23415145G>C ENST00000307149.5 - 13 1858 c.1673C>G c.(1672-1674)tCa>tGa p.S558* NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 558 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) GTGGTTGCTTGACCCTTTTTC 0.493000 35 29 0 0 1 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65713282 65713282 + RNA SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:65713282C>G ENST00000608857.1 + 0 136 TSGA10IP_ENST00000532620.1_RNA NM_152762.2 NP_689975.2 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 GACCGTCTCTCAGGACAAGCA 0.647000 37 40 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215433 140215433 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:140215433C>T ENST00000525929.1 + 1 1465 c.1465C>T c.(1465-1467)Ctg>Ttg p.L489L PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.L489L NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGAACGCGCTGGTGTCCTA 0.677000 36 100 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47532167 47532167 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr21:47532167C>T ENST00000300527.4 + 3 494 c.390C>T c.(388-390)cgC>cgT p.R130R COL6A2_ENST00000310645.5_Silent_p.R130R|COL6A2_ENST00000397763.1_Silent_p.R130R|COL6A2_ENST00000357838.4_Silent_p.R130R|COL6A2_ENST00000409416.1_Silent_p.R130R NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 130 Nonhelical region.|VWFA 1. 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) CCTTCCGCCGCGGCACCTTCA 0.672000 26 38 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71041012 71041012 + Silent SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr8:71041012G>C ENST00000452400.2 - 17 3709 c.3528C>G c.(3526-3528)ctC>ctG p.L1176L NCOA2_ENST00000267974.4_Silent_p.L264L NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1176 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CCGTGGGCCTGAGGCCCGGTC 0.562000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 14 78 0 0 1 0 0 ATP6V0E2 155066 broad.mit.edu 37 7 149575806 149575806 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:149575806C>A ENST00000456496.2 + 3 1290 c.339C>A c.(337-339)ttC>ttA p.F113L ATP6V0E2_ENST00000425642.2_Missense_Mutation_p.F64L|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2_ENST00000464662.1_Missense_Mutation_p.F64L|ATP6V0E2_ENST00000606024.1_Intron|ATP6V0E2_ENST00000421974.2_Intron|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000479613.1_Missense_Mutation_p.F64L NM_145230.2 NP_660265.2 Q8NHE4 VA0E2_HUMAN ATPase, H+ transporting V0 subunit e2 64 ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00256) ACCCCCTGTTCGGGCCCCAGC 0.662000 57 21 6.1719e-39 6.85615e-39 1 1 0 SMYD5 10322 broad.mit.edu 37 2 73441405 73441405 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:73441405C>G ENST00000389501.4 + 1 56 c.11C>G c.(10-12)tCc>tGc p.S4C NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 4 metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 ATGGCGGCCTCCATGTGCGAC 0.706000 101 316 0 0 1 0 0 C10orf67 256815 broad.mit.edu 37 10 23622056 23622056 + Nonsense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:23622056G>A ENST00000323327.4 - 2 332 c.265C>T c.(265-267)Caa>Taa p.Q89* NM_153714.2 NP_714925.2 Q8IYJ2 CJ067_HUMAN chromosome 10 open reading frame 67 89 central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1) 5 GAATCAGTTTGAGTGGCATGG 0.328000 22 16 0 0 1 0 0 CSNK2B 1460 broad.mit.edu 37 6 31637174 31637174 + Nonsense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:31637174C>G ENST00000375880.2 + 6 564 c.446C>G c.(445-447)tCa>tGa p.S149* CSNK2B_ENST00000375885.4_Nonsense_Mutation_p.S168*|CSNK2B_ENST00000375866.2_Nonsense_Mutation_p.S149*|CSNK2B_ENST00000375882.2_Nonsense_Mutation_p.S149*|CSNK2B_ENST00000375865.2_Nonsense_Mutation_p.S149* CCCAAGTCATCAAGACACCAT 0.567000 13 69 0 0 1 0 0 MFRP 83552 broad.mit.edu 37 11 119216562 119216562 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:119216562G>A ENST00000555262.1 - 4 507 c.348C>T c.(346-348)acC>acT p.T116T MFRP_ENST00000360167.4_Silent_p.T116T|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000530681.1_Silent_p.T116T|MFRP_ENST00000449574.2_Silent_p.T116T|MFRP_ENST00000529147.1_5'UTR NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) tgatggtgggggtggtggtgg 0.657000 62 39 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89968399 89968399 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:89968399G>A ENST00000405460.2 + 22 4885 c.4789G>A c.(4789-4791)Gag>Aag p.E1597K GPR98_ENST00000450321.2_3'UTR NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1597 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGTGTGGTTGAGAGAACCAG 0.358000 8 26 0 0 1 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49362886 49362886 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:49362886C>T ENST00000263265.6 - 7 1087 c.532G>A c.(532-534)Ggt>Agt p.G178S PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G178S NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 178 Pro-rich. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GGGGGACCACCGGGGCCGCCG 0.632000 22 24 0 0 1 0 0 CD28 940 broad.mit.edu 37 2 204591441 204591441 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:204591441C>T ENST00000324106.8 + 2 287 c.138C>T c.(136-138)ctC>ctT p.L46L CD28_ENST00000374478.4_Intron|CD28_ENST00000374481.3_Intron|CD28_ENST00000458610.2_Silent_p.L60L NM_001243077.1|NM_006139.3 NP_001230006.1|NP_006130.1 P10747 CD28_HUMAN CD28 molecule Ig-like V-type. cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 CCTACAATCTCTTCTCAAGGG 0.468000 16 50 0 0 1 0 0 TCHP 84260 broad.mit.edu 37 12 110341781 110341781 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:110341781G>C ENST00000312777.5 + 3 442 c.228G>C c.(226-228)aaG>aaC p.K76N TCHP_ENST00000405876.4_Missense_Mutation_p.K76N NM_032300.4 NP_115676.1 Q9BT92 TCHP_HUMAN trichoplein, keratin filament binding 76 Glu-rich.|Interaction with keratin proteins. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2) 22 AGGAGGAGAAGAGGAGGAGTC 0.592000 8 9 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76753365 76753365 + Silent SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr18:76753365C>A ENST00000536229.3 + 1 1684 c.975C>A c.(973-975)tcC>tcA p.S325S SALL3_ENST00000537592.2_Silent_p.S458S|SALL3_ENST00000575389.2_Silent_p.S458S Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ACCGCTTCTCCACCAAAGGCA 0.617000 9 20 1.58986e-06 1.63893e-06 1 1 0 PTPRG 5793 broad.mit.edu 37 3 62142873 62142873 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:62142873G>C ENST00000474889.1 + 7 1192 c.815G>C c.(814-816)aGa>aCa p.R272T PTPRG_ENST00000295874.10_Missense_Mutation_p.R272T NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 272 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) GTCTTCCGGAGACCCGTCCCC 0.502000 5 76 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108197836 108197836 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:108197836C>T ENST00000369002.4 - 19 2145 c.1966G>A c.(1966-1968)Gca>Aca p.A656T NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 656 SEC63 2. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TTCCTATCTGCAATGTAAAGC 0.333000 40 43 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7695372 7695372 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:7695372C>T ENST00000572933.1 + 45 8498 c.7038C>T c.(7036-7038)ggC>ggT p.G2346G DNAH2_ENST00000389173.2_Silent_p.G2346G Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2346 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGATCGAGGGCTCCTTTCCCA 0.557000 31 9 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66472142 66472142 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:66472142C>G ENST00000533211.1 - 15 2936 c.2605G>C c.(2605-2607)Gag>Cag p.E869Q SPTBN2_ENST00000529997.1_Missense_Mutation_p.E869Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E869Q O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 869 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TCCTTCTCCTCCACCCAGAGT 0.701000 6 10 0 0 1 0 0 TMEM45B 120224 broad.mit.edu 37 11 129727291 129727291 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:129727291C>T ENST00000281441.3 + 5 742 c.654C>T c.(652-654)tgC>tgT p.C218C TMEM45B_ENST00000524567.1_Silent_p.C218C NM_138788.3 NP_620143.1 Q96B21 TM45B_HUMAN transmembrane protein 45B 218 integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) TCACCATGTGCTTCTGCTGGC 0.488000 24 64 0 0 1 0 0 AICDA 57379 broad.mit.edu 37 12 8757469 8757469 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:8757469G>A ENST00000229335.6 - 4 580 c.477C>T c.(475-477)ttC>ttT p.F159F AICDA_ENST00000537228.1_Silent_p.F149F NM_020661.2 NP_065712.1 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 159 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1) 16 Lung SC(5;0.184) CCCAGGCTTTGAAAGTTCTTT 0.403000 68 51 0 0 1 0 0 DENND6B 414918 broad.mit.edu 37 22 50752281 50752281 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr22:50752281G>A ENST00000413817.3 - 14 1236 c.1165C>T c.(1165-1167)Ctc>Ttc p.L389F NM_001001794.3 NP_001001794.3 DENN/MADD domain containing 6B TCGCGGTGGAGGTGGGCCGTG 0.672000 8 16 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189909916 189909916 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:189909916G>A ENST00000374866.3 - 47 3626 c.3352C>T c.(3352-3354)Cgt>Tgt p.R1118C NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1118 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGTAATCCACGTTTCCCAGCT 0.299000 12 15 0 0 1 0 0 ZNF439 90594 broad.mit.edu 37 19 11977127 11977127 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:11977127C>G ENST00000304030.2 + 1 356 c.156C>G c.(154-156)ttC>ttG p.F52L ZNF439_ENST00000455282.1_Intron|ZNF439_ENST00000592534.1_Intron NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 TGGAAACTTTCTGGAACCTGA 0.443000 74 63 0 0 1 0 0 KAT5 10524 broad.mit.edu 37 11 65480937 65480937 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:65480937C>T ENST00000341318.4 + 4 737 c.503C>T c.(502-504)tCc>tTc p.S168F KAT5_ENST00000534650.1_Intron|KAT5_ENST00000530446.1_Intron|KAT5_ENST00000377046.3_Missense_Mutation_p.S135F|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000352980.4_Intron NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 135 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 CAGCCGCTCTCCTCCAGCTCC 0.617000 57 36 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141533778 141533778 + Missense_Mutation SNP A A C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:141533778A>C ENST00000389484.3 - 33 6360 c.5389T>G c.(5389-5391)Tta>Gta p.L1797V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1797 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGCTGGGCTAAGTTTTGGTCT 0.343000 TSP Lung(27;0.18) 5 21 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38327865 38327865 + Silent SNP A A G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr22:38327865A>G ENST00000215957.6 + 10 2067 c.1941A>G c.(1939-1941)acA>acG p.T647T MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 647 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) CCCCAGCCACAAAGAAGGCCA 0.587000 36 54 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146823326 146823326 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:146823326G>C ENST00000508784.1 - 2 1312 c.1085C>G c.(1084-1086)tCc>tGc p.S362C ZNF827_ENST00000379448.4_Missense_Mutation_p.S362C|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) ACCTGAATTGGAGGGTTTAGA 0.458000 15 7 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40034501 40034501 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:40034501C>T ENST00000372857.3 - 6 1641 c.849G>A c.(847-849)ttG>ttA p.L283L PABPC4_ENST00000372862.3_Silent_p.L283L|PABPC4_ENST00000372856.3_Silent_p.L283L|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Silent_p.L283L NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 283 blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TCTCCTGTTTCAACTGTTCAA 0.408000 43 443 0 0 1 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468865 35468865 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr21:35468865C>G ENST00000608209.1 + 2 1880 c.1368C>G c.(1366-1368)ttC>ttG p.F456L SLC5A3_ENST00000381151.3_Missense_Mutation_p.F456L|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 CAGCCTTGTTCCTGCTGGCAA 0.512000 19 68 0 0 1 0 0 S100A13 6284 broad.mit.edu 37 1 153598931 153598931 + Silent SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:153598931C>A ENST00000368699.1 - 4 521 c.18G>T c.(16-18)ctG>ctT p.L6L S100A13_ENST00000339556.4_Silent_p.L6L|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000392622.1_Silent_p.L6L|S100A13_ENST00000392623.1_Silent_p.L6L|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000440685.2_Silent_p.L6L NM_001024210.1 NP_001019381.1 Q99584 S10AD_HUMAN S100 calcium binding protein A13 6 interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(4) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) CTAGCTCTGTCAGTGGTTCTG 0.557000 29 112 5.90632e-09 6.2035e-09 1 1 0 MDC1 9656 broad.mit.edu 37 6 30682949 30682949 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:30682949C>T ENST00000376406.3 - 2 651 c.4G>A c.(4-6)Gag>Aag p.E2K MDC1_ENST00000376405.2_Missense_Mutation_p.E2K NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 2 Interaction with CHEK2.|Interaction with the MRN complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TGGGTGTCCTCCATGATCTGG 0.463000 Other conserved DNA damage response genes 23 23 0 0 1 0 0 PUS10 150962 broad.mit.edu 37 2 61180158 61180158 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:61180158C>G ENST00000316752.6 - 15 1543 c.1282G>C c.(1282-1284)Gac>Cac p.D428H PUS10_ENST00000407787.1_Missense_Mutation_p.D428H NM_144709.2 NP_653310.2 Q3MIT2 PUS10_HUMAN pseudouridylate synthase 10 428 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2) 22 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) AATTCAATGTCTTTCTTCTGT 0.318000 16 48 0 0 1 0 0 TUBA3E 112714 broad.mit.edu 37 2 130951796 130951796 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:130951796C>G ENST00000312988.7 - 4 719 c.619G>C c.(619-621)Gaa>Caa p.E207Q NM_207312.2 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 207 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) TAGATGGCTTCATTGTCGACC 0.562000 27 62 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16974540 16974540 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:16974540C>T ENST00000379803.1 + 11 1426 c.1412C>T c.(1411-1413)aCg>aTg p.T471M SIN3B_ENST00000595541.1_Missense_Mutation_p.T29M|SIN3B_ENST00000248054.5_Missense_Mutation_p.T439M NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 471 Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity). cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GAGGACTCCACGTTCGTCAGC 0.612000 18 27 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31597995 31597995 + Missense_Mutation SNP T T C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr14:31597995T>C ENST00000399332.1 - 25 5070 c.4582A>G c.(4582-4584)Atg>Gtg p.M1528V HECTD1_ENST00000553700.1_Missense_Mutation_p.M1528V NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1528 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CTAGAGCTCATAGGGGCCCCA 0.453000 7 20 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148035156 148035156 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chrX:148035156G>A ENST00000370460.2 + 10 1923 c.1444G>A c.(1444-1446)Ggg>Agg p.G482R AFF2_ENST00000342251.3_Missense_Mutation_p.G449R|AFF2_ENST00000286437.5_Missense_Mutation_p.G123R|AFF2_ENST00000370457.5_Missense_Mutation_p.G449R NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 482 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.G482R(2)|p.G123R(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GCAAGCCAGCGGGGGTTCTGG 0.522000 75 15 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47745674 47745674 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:47745674C>A ENST00000263773.5 - 14 2382 c.2370G>T c.(2368-2370)aaG>aaT p.K790N NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 790 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 TAGCTTTCCTCTTTATTCCTT 0.413000 14 32 3.27435e-08 3.4105e-08 1 1 0 DDHD1 80821 broad.mit.edu 37 14 53513515 53513515 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr14:53513515C>T ENST00000357758.3 - 12 2773 c.2590G>A c.(2590-2592)Gat>Aat p.D864N DDHD1_ENST00000395606.1_Missense_Mutation_p.D871N|DDHD1_ENST00000323669.5_Missense_Mutation_p.D892N NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 892 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) GGTTTTGCATCATCATCGTGC 0.388000 35 18 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41519023 41519023 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr8:41519023C>G ENST00000396942.1 - 42 5762 c.5679G>C c.(5677-5679)caG>caC p.Q1893H RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000314214.8_Missense_Mutation_p.Q143H|ANK1_ENST00000352337.4_Missense_Mutation_p.Q1846H|ANK1_ENST00000522231.1_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000289734.7_Missense_Mutation_p.Q1868H|ANK1_ENST00000522543.1_Intron P16157 ANK1_HUMAN ankyrin 1, erythrocytic 0 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCTTCACTATCTGCGCCCCCT 0.612000 28 109 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 5947410 5947410 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:5947410G>A ENST00000378156.4 - 18 2686 c.2421C>T c.(2419-2421)cgC>cgT p.R807R NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 807 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) TGGGCTTGACGCGGCCAAACC 0.632000 34 14 0 0 1 0 0 LMBR1 64327 broad.mit.edu 37 7 156518477 156518477 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:156518477G>A ENST00000353442.5 - 13 1284 c.1048C>T c.(1048-1050)Ctt>Ttt p.L350F LMBR1_ENST00000540390.1_Missense_Mutation_p.L329F|LMBR1_ENST00000359422.4_Missense_Mutation_p.L198F|LMBR1_ENST00000354505.4_Missense_Mutation_p.L391F NM_022458.3 NP_071903.2 Q8WVP7 LMBR1_HUMAN limb development membrane protein 1 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) ATGATTTCAAGCGCAGCTCCC 0.398000 39 12 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42992455 42992455 + Missense_Mutation SNP T T A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:42992455T>A ENST00000253408.5 - 1 465 c.400A>T c.(400-402)Agc>Tgc p.S134C GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.S134C|GFAP_ENST00000586793.1_Missense_Mutation_p.S134C NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 134 Coil 1B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) AGCCGGGCGCTGTTGGCGGTG 0.647000 11 33 0 0 1 0 0 SGPL1 8879 broad.mit.edu 37 10 72633171 72633171 + Nonsense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:72633171C>T ENST00000373202.3 + 12 1323 c.1123C>T c.(1123-1125)Cag>Tag p.Q375* NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 375 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) CAGGAACTATCAGTTCTTCGT 0.498000 20 62 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138968078 138968078 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:138968078C>G ENST00000473989.3 + 15 2427 c.2427C>G c.(2425-2427)atC>atG p.I809M UBN2_ENST00000288561.8_Missense_Mutation_p.I726M NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 TAGCAAGTATCATGAGTAAGC 0.448000 14 55 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111932989 111932989 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr13:111932989C>T ENST00000375741.2 + 16 2003 c.1753C>T c.(1753-1755)Ccc>Tcc p.P585S ARHGEF7_ENST00000317133.5_Missense_Mutation_p.P564S|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P407S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P482S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.P535S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.P407S|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.P329S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P492S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P407S|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.P407S NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 585 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TGTGGGAAACCCCACCATAAA 0.537000 23 70 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60642428 60642428 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:60642428C>T ENST00000278853.5 + 10 1595 c.1595C>T c.(1594-1596)tCt>tTt p.S532F NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 532 ZP. single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TGCAGCACCTCTGCCTGCCAC 0.527000 28 59 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219289008 219289008 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:219289008G>C ENST00000248444.5 + 3 172 c.84G>C c.(82-84)caG>caC p.Q28H VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.Q28H NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 28 Core.|Necessary for homodimerization. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGCCATGCAGATGGTGCCTG 0.627000 22 30 0 0 1 0 0 ERCC4 2072 broad.mit.edu 37 16 14029110 14029110 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:14029110G>A ENST00000311895.7 + 8 1330 c.1321G>A c.(1321-1323)Gag>Aag p.E441K CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 441 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 GAAAACCTTTGAGAAGGATAG 0.423000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 47 37 0 0 1 0 0 SUN3 256979 broad.mit.edu 37 7 48026960 48026960 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:48026960G>A ENST00000453192.2 - 11 1248 c.1005C>T c.(1003-1005)ttC>ttT p.F335F SUN3_ENST00000297325.4_Silent_p.F347F|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Silent_p.F347F|SUN3_ENST00000412142.1_Silent_p.F259F NM_001284350.1 NP_001271279.1 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 3 347 SUN. integral to membrane central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CATGGACCCTGAATCGATATA 0.383000 54 100 0 0 1 0 0 TTYH1 57348 broad.mit.edu 37 19 54942066 54942066 + Nonsense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:54942066C>T ENST00000301194.4 + 9 1137 c.1015C>T c.(1015-1017)Cag>Tag p.Q339* TTYH1_ENST00000391739.3_Missense_Mutation_p.S369L|TTYH1_ENST00000376530.3_Nonsense_Mutation_p.Q339*|TTYH1_ENST00000376531.3_Nonsense_Mutation_p.Q339*|TTYH1_ENST00000489425.1_3'UTR|AC008746.3_ENST00000457113.1_RNA Q9H313 TTYH1_HUMAN tweety family member 1 339 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) AGCTGTGCCTCAGTTCCCTTC 0.682000 23 60 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45548015 45548015 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr21:45548015G>A ENST00000291576.7 + 18 2470 c.2343G>A c.(2341-2343)gcG>gcA p.A781A PWP2_ENST00000494310.1_3'UTR NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 781 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CCCTGGAGGCGGTGCCCAGGG 0.632000 16 19 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241725797 241725797 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:241725797G>C ENST00000498729.2 - 6 809 c.563C>G c.(562-564)tCc>tGc p.S188C KIF1A_ENST00000320389.7_Missense_Mutation_p.S188C NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 188 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity 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) GTCATTGTAGGAGGTGACAGC 0.632000 28 27 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16727860 16727860 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr9:16727860C>T ENST00000380672.4 - 3 322 c.265G>A c.(265-267)Gaa>Aaa p.E89K BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron|BNC2_ENST00000380666.2_Missense_Mutation_p.E89K NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) AACCCTGGTTCAGCCGTAGTC 0.438000 26 61 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8460493 8460493 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr9:8460493C>T ENST00000381196.4 - 30 4336 c.3793G>A c.(3793-3795)Gaa>Aaa p.E1265K PTPRD_ENST00000537002.1_Missense_Mutation_p.E851K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1252K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1243K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E851K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E854K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E854K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E844K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E844K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1265K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1265K NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1265 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ATCAAGCCTTCTTCTTCATCC 0.453000 TSP Lung(15;0.13) 17 42 0 0 1 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122478187 122478187 + Silent SNP G G A rs74824564 by1000genomes TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:122478187G>A ENST00000383659.1 - 4 575 c.453C>T c.(451-453)ttC>ttT p.F151F HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000306103.2_Silent_p.F151F Q96EW2 HBAP1_HUMAN HSPB (heat shock 27kDa) associated protein 1 151 Interaction with HSPB1 (By similarity).|JmjC. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) CAGGAAACCCGAAGTCAGACC 0.438000 66 65 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168100279 168100279 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:168100279C>G ENST00000519560.1 - 33 4163 c.3744G>C c.(3742-3744)caG>caC p.Q1248H SLIT3_ENST00000332966.8_Missense_Mutation_p.Q1255H|SLIT3_ENST00000404867.3_Missense_Mutation_p.Q1248H NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1248 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTTCAGGGTCTGGTTTAGCG 0.547000 27 59 0 0 1 0 0 WDR92 116143 broad.mit.edu 37 2 68385241 68385241 + Missense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:68385241G>T ENST00000406334.3 - 7 667 c.449C>A c.(448-450)aCg>aAg p.T150K PNO1_ENST00000263657.2_Missense_Mutation_p.V59F 0 GAAGAGGCCCGTCTTCCCACC 0.672000 4 11 0.00116845 0.00117548 1 1 0 RHBDF2 79651 broad.mit.edu 37 17 74470535 74470535 + Nonsense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:74470535G>A ENST00000591885.1 - 12 1934 c.1384C>T c.(1384-1386)Cga>Tga p.R462* RHBDF2_ENST00000389760.4_Nonsense_Mutation_p.R462*|RHBDF2_ENST00000313080.4_Nonsense_Mutation_p.R491* Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 491 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 TCCAGGTCTCGCTCGCGCAGC 0.647000 78 27 0 0 1 0 0 STX2 2054 broad.mit.edu 37 12 131285986 131285986 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:131285986C>T ENST00000261653.6 - 7 677 c.511G>A c.(511-513)Ggg>Agg p.G171R STX2_ENST00000392373.2_Missense_Mutation_p.G171R NM_001980.3 NP_001971.2 P32856 STX2_HUMAN syntaxin 2 171 acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction calcium-dependent protein binding|SNAP receptor activity p.G171W(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1) 16 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05) GATGGCTTCCCGCTCTCCAGC 0.522000 35 27 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52822256 52822256 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:52822256G>C ENST00000273283.2 + 18 2038 c.2014G>C c.(2014-2016)Gac>Cac p.D672H ITIH1_ENST00000540715.1_Missense_Mutation_p.D530H|ITIH1_ENST00000405128.3_Missense_Mutation_p.D38H|ITIH1_ENST00000537050.1_Missense_Mutation_p.D384H|ITIH1_ENST00000542827.1_Splice_Site NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 672 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) AGTGGACACAGACCCTCACTT 0.572000 6 12 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57965107 57965107 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:57965107G>A ENST00000455537.2 + 13 1571 c.1297G>A c.(1297-1299)Gat>Aat p.D433N KIF5A_ENST00000286452.5_Missense_Mutation_p.D344N NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 433 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CCAACAGGATGATGAAATCAA 0.478000 12 25 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65858197 65858197 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:65858197C>T ENST00000395325.3 + 12 1538 c.1381C>T c.(1381-1383)Ctg>Ttg p.L461L DNAJC6_ENST00000263441.7_Silent_p.L448L|DNAJC6_ENST00000371069.4_Silent_p.L518L NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 461 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 TGATGAACTTCTGACACTTTC 0.527000 5 26 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62290455 62290455 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:62290455C>T ENST00000258991.3 - 2 1207 c.1123G>A c.(1123-1125)Gag>Aag p.E375K TEX2_ENST00000584379.1_Missense_Mutation_p.E375K|TEX2_ENST00000583097.1_Missense_Mutation_p.E375K Q8IWB9 TEX2_HUMAN testis expressed 2 375 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CTTGTGGGCTCACCAGTGGAC 0.483000 20 72 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39900203 39900203 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:39900203G>C ENST00000564288.1 + 69 18460 c.17683G>C c.(17683-17685)Gag>Cag p.E5895Q MACF1_ENST00000545844.1_Missense_Mutation_p.E3833Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E5791Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E3833Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E3703Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E5932Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E4335Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E3833Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5899 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AACTTATGAAGAGCTCAGCCC 0.488000 192 31 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1652233 1652233 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:1652233G>A ENST00000252804.4 - 17 3369 c.3319C>T c.(3319-3321)Cgg>Tgg p.R1107W NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1107 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TTCACAATCCGGAAGGGAGAG 0.587000 5 26 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183528370 183528370 + Nonstop_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:183528370G>T ENST00000305135.5 + 31 4463 c.4268G>T c.(4267-4269)tGa>tTa p.*1423L YEATS2-AS1_ENST00000609195.1_RNA NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 0 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GAGGACCAGTGAGCGGAGTGA 0.488000 13 35 4.3838e-07 4.52842e-07 1 1 0 DNAH10 196385 broad.mit.edu 37 12 124403231 124403231 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:124403231G>C ENST00000409039.3 + 64 10912 c.10887G>C c.(10885-10887)gaG>gaC p.E3629D NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3629 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGGTCTCAGAGAAACTCAAGC 0.592000 15 48 0 0 1 0 0 GRB14 2888 broad.mit.edu 37 2 165404260 165404260 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:165404260G>C ENST00000263915.3 - 3 929 c.391C>G c.(391-393)Cga>Gga p.R131G GRB14_ENST00000543549.1_Missense_Mutation_p.R44G NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 131 Ras-associating. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 CAAACATCTCGAGCCGTTATG 0.423000 4 28 0 0 1 0 0 C1orf110 339512 broad.mit.edu 37 1 162824967 162824967 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:162824967G>C ENST00000367912.2 - 4 668 c.494C>G c.(493-495)tCt>tGt p.S165C C1orf110_ENST00000367910.1_Missense_Mutation_p.S166C|C1orf110_ENST00000367911.2_Missense_Mutation_p.S161C|C1orf110_ENST00000524691.1_Intron Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 TACGTCCTTAGATGGATTCAC 0.468000 19 687 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132063807 132063807 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:132063807G>A ENST00000336375.5 + 7 775 c.685G>A c.(685-687)Gag>Aag p.E229K ACPP_ENST00000351273.7_Missense_Mutation_p.E229K|ACPP_ENST00000475741.1_Missense_Mutation_p.E196K NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 229 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 CTGGGCCACTGAGGACACCAT 0.413000 16 77 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155790434 155790434 + Missense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:155790434G>T ENST00000437809.1 - 6 1099 c.977C>A c.(976-978)aCa>aAa p.T326K GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.T326K|GON4L_ENST00000361040.5_Missense_Mutation_p.T326K|GON4L_ENST00000271883.5_Missense_Mutation_p.T326K NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 326 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TTTAGAGCGTGTCATTTTAGG 0.378000 11 51 9.31168e-06 9.50133e-06 1 1 0 RIMS2 9699 broad.mit.edu 37 8 105026785 105026785 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr8:105026785C>T ENST00000507740.1 + 17 2954 c.2718C>T c.(2716-2718)gtC>gtT p.V906V RIMS2_ENST00000406091.3_Silent_p.V1092V|RIMS2_ENST00000436393.2_Silent_p.V832V|RIMS2_ENST00000262231.10_Silent_p.V931V NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1154 C2 1. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GTACTCCAGTCGCAGGACGAA 0.423000 HNSCC(12;0.0054) 38 12 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281003 152281003 + Missense_Mutation SNP T T C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:152281003T>C ENST00000368799.1 - 3 6394 c.6359A>G c.(6358-6360)gAt>gGt p.D2120G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2120 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGTGCCTGATCATAATGGGA 0.577000 Ichthyosis 106 804 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201046204 201046204 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:201046204G>A ENST00000362061.3 - 12 1897 c.1671C>T c.(1669-1671)cgC>cgT p.R557R CACNA1S_ENST00000367338.3_Silent_p.R557R NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 557 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGGCGATGGAGCGGATGGAGT 0.577000 88 10 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6935872 6935872 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:6935872C>G ENST00000311268.3 + 5 2057 c.1270C>G c.(1270-1272)Cgg>Ggg p.R424G GPR162_ENST00000428545.2_Missense_Mutation_p.R140G|GPR162_ENST00000382315.3_Missense_Mutation_p.R120G NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 424 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 CTCTACCCCTCGGGAACCAGG 0.622000 34 126 0 0 1 0 0 ZNF511 118472 broad.mit.edu 37 10 135164890 135164890 + Silent SNP T T C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:135164890T>C ENST00000368554.4 + 6 580 c.558T>C c.(556-558)ccT>ccC p.P186P PRAP1_ENST00000458230.1_Silent_p.P27P|PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000433452.2_Silent_p.P27P|PRAP1_ENST00000423766.1_Silent_p.P27P Q8NB15 ZN511_HUMAN zinc finger protein 511 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) CCCAGGTCCCTATCAAGATGC 0.637000 7 12 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52618466 52618466 + Missense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:52618466G>T ENST00000600228.1 - 4 2212 c.1951C>A c.(1951-1953)Cat>Aat p.H651N ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 651 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) ACAGTCTGATGAAGTCTAAGA 0.418000 43 38 3.76604e-16 4.0576e-16 1 1 0 ATXN7L1 222255 broad.mit.edu 37 7 105401857 105401857 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:105401857C>T ENST00000318724.4 - 4 431 c.408G>A c.(406-408)gaG>gaA p.E136E ATXN7L1_ENST00000419735.3_Intron|ATXN7L1_ENST00000478915.1_Silent_p.E85E NM_152749.3 NP_689962.1 Q9ULK2 AT7L1_HUMAN ataxin 7-like 1 136 endometrium(1)|large_intestine(4)|lung(5) 10 CTTGGCTGCTCTCTGGTCCAC 0.458000 90 26 0 0 1 0 0 BCL3 602 broad.mit.edu 37 19 45259496 45259496 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:45259496C>T ENST00000164227.5 + 3 662 c.418C>T c.(418-420)Cat>Tat p.H140Y NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 140 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CAGGCCTCTCCATATTGCTGT 0.567000 T IGH@ CLL 9 18 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138968631 138968631 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:138968631C>G ENST00000473989.3 + 15 2980 c.2980C>G c.(2980-2982)Caa>Gaa p.Q994E UBN2_ENST00000288561.8_Missense_Mutation_p.Q911E NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 Ser-rich. p.Q911E(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 AAATGGTTCTCAAGGGTCCCA 0.493000 16 53 0 0 1 0 0 ZNF454 285676 broad.mit.edu 37 5 178391770 178391770 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:178391770G>A ENST00000320129.3 + 5 668 c.365G>A c.(364-366)tGt>tAt p.C122Y ZNF454_ENST00000519564.1_Missense_Mutation_p.C122Y NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) CACTGGAAGTGTGCTAGCCTG 0.483000 11 31 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13601435 13601435 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:13601435C>T ENST00000040738.5 - 10 7224 c.7089G>A c.(7087-7089)ctG>ctA p.L2363L NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2363 DNA binding CTGTGGCTGACAGGTCACCGT 0.542000 26 40 0 0 1 0 0 SAMD3 154075 broad.mit.edu 37 6 130497110 130497110 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:130497110C>T ENST00000532763.1 - 7 821 c.692G>A c.(691-693)cGa>cAa p.R231Q SAMD3_ENST00000437477.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000368134.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000457563.2_Missense_Mutation_p.R257Q|SAMD3_ENST00000439090.2_Missense_Mutation_p.R233Q Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 233 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TATGGGTCTTCGAACATATTT 0.343000 23 18 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 5 45 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113664754 113664754 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:113664754G>C ENST00000550785.1 + 3 482 c.313G>C c.(313-315)Gag>Cag p.E105Q TPCN1_ENST00000335509.6_Missense_Mutation_p.E33Q|TPCN1_ENST00000541517.1_Missense_Mutation_p.E105Q NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 33 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGGCCAAGAAGAGCTACCTAG 0.567000 18 24 0 0 1 0 0 SNHG10 283596 broad.mit.edu 37 14 95999806 95999806 + RNA SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr14:95999806C>T ENST00000500370.2 - 0 766 SCARNA13_ENST00000516672.1_RNA|SNHG10_ENST00000555866.1_RNA|SNHG10_ENST00000554169.1_RNA|SNHG10_ENST00000553559.1_RNA CAGTCATTATCACCGTGGCAA 0.448000 73 19 0 0 1 0 0 ESRP2 80004 broad.mit.edu 37 16 68269602 68269602 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:68269602C>G ENST00000473183.2 - 2 800 c.262G>C c.(262-264)Gag>Cag p.E88Q ESRP2_ENST00000565858.1_Missense_Mutation_p.E88Q Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 88 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 CCGCTCGCCTCGCGGCACTGC 0.726000 12 15 0 0 1 0 0 CDKN2AIPNL 91368 broad.mit.edu 37 5 133745644 133745644 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:133745644C>G ENST00000458198.2 - 2 332 c.289G>C c.(289-291)Gaa>Caa p.E97Q NM_080656.2 NP_542387.1 Q96HQ2 C2AIL_HUMAN CDKN2A interacting protein N-terminal like 97 central_nervous_system(1)|kidney(2)|prostate(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTTCCACTTCAATCCCATCG 0.368000 19 21 0 0 1 0 0 TAPT1 202018 broad.mit.edu 37 4 16165044 16165044 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:16165044C>T ENST00000405303.2 - 14 1674 c.1591G>A c.(1591-1593)Gat>Aat p.D531N TAPT1_ENST00000304584.8_3'UTR|TAPT1_ENST00000399920.3_Missense_Mutation_p.D420N NM_153365.2 NP_699196.2 Q6NXT6 TAPT1_HUMAN transmembrane anterior posterior transformation 1 531 integral to membrane growth hormone-releasing hormone receptor activity NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 10 TCGTCACCATCTGGAGTTGTC 0.373000 28 82 0 0 1 0 0 C9orf24 84688 broad.mit.edu 37 9 34385778 34385778 + Splice_Site SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr9:34385778C>T ENST00000297623.2 - 2 335 c.137G>A c.(136-138)gGt>gAt p.G46D NM_032596.3 NP_115985.2 Q8NCR6 CI024_HUMAN chromosome 9 open reading frame 24 46 endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.123) ATGAGTCAGACCCTGGGCAAG 0.567000 22 65 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51667674 51667674 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:51667674C>T ENST00000409535.2 + 7 1032 c.907C>T c.(907-909)Ctg>Ttg p.L303L RAD54L2_ENST00000296477.3_5'UTR NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) Helicase ATP-binding. nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) TGGCTGTATTCTGGCCCACAG 0.522000 67 57 0 0 1 0 0 PLCD1 5333 broad.mit.edu 37 3 38058157 38058157 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:38058157C>G ENST00000463876.1 - 3 669 c.316G>C c.(316-318)Gag>Cag p.E106Q PLCD1_ENST00000479619.1_5'UTR|PLCD1_ENST00000334661.4_Missense_Mutation_p.E85Q NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 85 PH. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GCGAACTTCTCCAGACCCTCC 0.602000 3 15 0 0 1 0 0 TALDO1 6888 broad.mit.edu 37 11 763351 763351 + Missense_Mutation SNP G G A rs140952110 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:763351G>A ENST00000319006.3 + 5 622 c.469G>A c.(469-471)Gag>Aag p.E157K TALDO1_ENST00000528097.1_Missense_Mutation_p.E157K P37837 TALDO_HUMAN transaldolase 1 157 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2) 14 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) CAGGGAGCTCGAGGAGCAGCA 0.697000 26 12 0 0 1 0 0 SEZ6 124925 broad.mit.edu 37 17 27282970 27282970 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:27282970G>C ENST00000360295.9 - 17 3254 c.2979C>G c.(2977-2979)atC>atG p.I993M SEZ6_ENST00000317338.12_3'UTR|SEZ6_ENST00000442608.3_Missense_Mutation_p.I980M|PIPOX_ENST00000583215.1_Intron NM_001098635.1|NM_178860.4 NP_001092105.1|NP_849191.3 Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 0 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) CCCCCACCTAGATGGAGACTT 0.512000 5 24 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64519937 64519937 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:64519937G>A ENST00000164139.3 - 13 1956 c.1558C>T c.(1558-1560)Cgc>Tgc p.R520C PYGM_ENST00000377432.3_Missense_Mutation_p.R432C NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 520 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) AGCAGTTTGCGCAGCTGGTCC 0.562000 25 19 0 0 1 0 0 BTBD8 284697 broad.mit.edu 37 1 92568029 92568029 + Splice_Site SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:92568029G>C ENST00000370382.3 + 3 614 c.e3-1 BTBD8_ENST00000342818.3_Splice_Site|BTBD8_ENST00000540648.1_Splice_Site Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) ttGTCTTTTAGGATTATATAT 0.249000 26 9 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17296403 17296403 + Missense_Mutation SNP G G A rs141836294 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:17296403G>A ENST00000375541.5 + 33 5494 c.5425G>A c.(5425-5427)Gag>Aag p.E1809K NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1809 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGTGGAGGCCGAGGGCCAGCT 0.657000 18 47 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113147101 113147101 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:113147101C>T ENST00000302558.3 - 20 3612 c.3421G>A c.(3421-3423)Gcc>Acc p.A1141T RGPD8_ENST00000409750.1_Missense_Mutation_p.A1001T NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 TCTAGTTTGGCATCACCATCA 0.458000 41 242 0 0 1 0 0 JAM3 83700 broad.mit.edu 37 11 134018532 134018532 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:134018532G>A ENST00000299106.4 + 7 962 c.803G>A c.(802-804)aGa>aAa p.R268K JAM3_ENST00000529443.2_Missense_Mutation_p.R313K|JAM3_ENST00000441717.3_Missense_Mutation_p.R217K Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 268 angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) TGTGCATACAGACGTGGCTAC 0.458000 11 35 0 0 1 0 0 SYCE2 256126 broad.mit.edu 37 19 13029073 13029073 + Nonsense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:13029073C>A ENST00000293695.7 - 2 112 c.94G>T c.(94-96)Gag>Tag p.E32* NM_001105578.1 NP_001099048.1 Q6PIF2 SYCE2_HUMAN synaptonemal complex central element protein 2 32 cell division central element endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 TCGCAGTTCTCTTCCCACCGC 0.602000 31 51 3.03874e-20 3.31679e-20 1 1 0 ABCC4 10257 broad.mit.edu 37 13 95815870 95815870 + Nonsense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr13:95815870G>T ENST00000376887.4 - 17 2321 c.2207C>A c.(2206-2208)tCa>tAa p.S736* ABCC4_ENST00000431522.1_Nonsense_Mutation_p.S736*|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.S661*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.S689* NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 736 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTACCAGTATGAAAGCCACCA 0.393000 4 29 2.56e-06 2.6282e-06 1 1 0 KLC2 64837 broad.mit.edu 37 11 66033221 66033221 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:66033221G>A ENST00000394065.2 + 10 2031 c.1013G>A c.(1012-1014)cGt>cAt p.R338H KLC2_ENST00000394066.2_Missense_Mutation_p.R400H|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000417856.1_Missense_Mutation_p.R477H|KLC2_ENST00000421552.1_Missense_Mutation_p.R400H|KLC2_ENST00000316924.5_Missense_Mutation_p.R477H|KLC2_ENST00000394067.2_Missense_Mutation_p.R477H Q9H0B6 KLC2_HUMAN kinesin light chain 2 477 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 TGTGCCAGCCGTAACCGCAAG 0.667000 3 32 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157068627 157068627 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:157068627G>C ENST00000454449.2 - 3 641 c.357C>G c.(355-357)ttC>ttG p.F119L NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 119 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) TGCTGAAGTTGAACTTGTATG 0.517000 31 147 0 0 1 0 0 ACCS 84680 broad.mit.edu 37 11 44105036 44105036 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:44105036G>A ENST00000263776.8 + 14 1751 c.1317G>A c.(1315-1317)aaG>aaA p.K439K NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 439 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 TGGACAACAAGGTGCTGCTGT 0.572000 24 7 0 0 1 0 0 GFPT2 9945 broad.mit.edu 37 5 179743770 179743770 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:179743770G>A ENST00000253778.8 - 12 1315 c.1146C>T c.(1144-1146)gcC>gcT p.A382A GFPT2_ENST00000520165.1_5'UTR NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 382 SIS 1. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) TTACAGCCACGGCAGCGTGGT 0.562000 8 18 0 0 1 0 0 PHF21A 51317 broad.mit.edu 37 11 45955620 45955620 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:45955620C>T ENST00000257821.4 - 18 2568 c.1945G>A c.(1945-1947)Gac>Aac p.D649N PHF21A_ENST00000418153.2_Missense_Mutation_p.D648N|PHF21A_ENST00000323180.6_Missense_Mutation_p.D602N NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 648 Required for transcriptional repression. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 GGGGTGCAGTCCGGGCCATTG 0.612000 9 22 0 0 1 0 0 PAX9 5083 broad.mit.edu 37 14 37132243 37132243 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr14:37132243C>T ENST00000361487.6 + 2 371 c.146C>T c.(145-147)tCg>tTg p.S49L PAX9_ENST00000402703.2_Missense_Mutation_p.S49L|PAX9_ENST00000554201.1_5'UTR P55771 PAX9_HUMAN paired box 9 49 Paired. multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) CTACGGGTCTCGCACGGCTGC 0.667000 53 9 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719896 140719896 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:140719896C>A ENST00000394576.2 + 1 1358 c.1358C>A c.(1357-1359)tCc>tAc p.S453Y PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGCCTTCTCCCGCACATCC 0.557000 27 87 7.41945e-09 7.76022e-09 1 1 0 ATM 472 broad.mit.edu 37 11 108198472 108198472 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:108198472C>A ENST00000278616.4 + 48 7461 c.7076C>A c.(7075-7077)aCc>aAc p.T2359N C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.T2359N NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2359 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATCATGCAGACCTATCTAGAA 0.378000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 11 33 6.71089e-19 7.27739e-19 1 1 0 WIPF1 7456 broad.mit.edu 37 2 175446123 175446123 + Silent SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:175446123C>G ENST00000392547.2 - 3 195 c.96G>C c.(94-96)ggG>ggC p.G32G AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Silent_p.G32G|WIPF1_ENST00000272746.5_Silent_p.G32G|WIPF1_ENST00000410117.1_Silent_p.G32G|WIPF1_ENST00000392546.2_Silent_p.G32G|WIPF1_ENST00000409415.3_Silent_p.G32G|WIPF1_ENST00000359761.3_Silent_p.G32G|AC010894.5_ENST00000454203.1_RNA NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 32 WH2. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 GAGCATTTCTCCCAGCCTGCT 0.423000 29 99 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608319 84608319 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr9:84608319C>T ENST00000344803.2 + 4 2981 c.2934C>T c.(2932-2934)agC>agT p.S978S NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GAACAACAAGCTCAGTCCCCA 0.517000 27 112 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32733070 32733070 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:32733070G>A ENST00000421745.2 + 51 9858 c.9724G>A c.(9724-9726)Gaa>Aaa p.E3242K NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3242 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AGTGTCTGTTGAAGTAAGTGC 0.383000 7 13 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7804697 7804697 + Splice_Site SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:7804697G>T ENST00000338316.4 + 22 2864 c.e22-1 ADCY2_ENST00000537121.1_Splice_Site NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.?(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TTGCTTCACAGCTTCTTTCCA 0.478000 13 41 6.72482e-11 7.12291e-11 1 1 0 FAT4 79633 broad.mit.edu 37 4 126369882 126369882 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:126369882G>A ENST00000394329.3 + 9 7724 c.7711G>A c.(7711-7713)Gaa>Aaa p.E2571K FAT4_ENST00000335110.5_Missense_Mutation_p.E869K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2571 Cadherin 25. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GAGAGCCAAAGAACAAACGTT 0.418000 12 28 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52703859 52703859 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:52703859C>T ENST00000287727.3 + 4 942 c.770C>T c.(769-771)tCc>tTc p.S257F ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S257F|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.S257F O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 257 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 AGAGACCCCTCCATGTCTGCG 0.423000 58 210 0 0 1 0 0 ADH6 130 broad.mit.edu 37 4 100134834 100134834 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:100134834G>A ENST00000394897.1 - 3 273 c.191C>T c.(190-192)cCc>cTc p.P64L ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.P64L|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.P64L P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 64 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) CAAGATGGTGGGATACAAGAG 0.493000 18 26 0 0 1 0 0 TSEN2 80746 broad.mit.edu 37 3 12533660 12533660 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:12533660C>T ENST00000444864.1 + 3 602 c.215C>T c.(214-216)tCa>tTa p.S72L TSEN2_ENST00000402228.3_Missense_Mutation_p.S72L|TSEN2_ENST00000454502.2_Missense_Mutation_p.S72L|TSEN2_ENST00000314571.7_Missense_Mutation_p.S72L|TSEN2_ENST00000284995.6_Missense_Mutation_p.S72L|TSEN2_ENST00000415684.1_Missense_Mutation_p.S72L|TSEN2_ENST00000383797.5_Missense_Mutation_p.S72L NM_001145395.1 NP_001138867.1 Q8NCE0 SEN2_HUMAN TSEN2 tRNA splicing endonuclease subunit 72 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7) 19 GGTATTCTTTCAAGAAGCCGT 0.338000 23 46 0 0 1 0 0 MYCN 4613 broad.mit.edu 37 2 16082732 16082732 + Silent SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:16082732G>T ENST00000281043.3 + 2 843 c.546G>T c.(544-546)ccG>ccT p.P182P NM_005378.4 NP_005369.2 P04198 MYCN_HUMAN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 182 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) TCGCCCACCCGGCCGCCGAGT 0.831000 A neuroblastoma 3 2 0.115264 0.115264 1 1 0 GIMAP6 474344 broad.mit.edu 37 7 150325268 150325268 + Nonsense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:150325268G>A ENST00000328902.5 - 3 634 c.418C>T c.(418-420)Cag>Tag p.Q140* GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 140 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCACCTGCTGATCCTCATCC 0.637000 29 65 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93730169 93730169 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr14:93730169C>G ENST00000334746.5 - 4 1640 c.1333G>C c.(1333-1335)Gac>Cac p.D445H BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Missense_Mutation_p.D94H NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 445 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) AGCAGATGGTCTTTGCTGAGT 0.423000 42 9 0 0 1 0 0 PAX3 5077 broad.mit.edu 37 2 223096987 223096987 + Nonsense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:223096987G>C ENST00000350526.4 - 5 738 c.602C>G c.(601-603)tCa>tGa p.S201* PAX3_ENST00000392069.2_Nonsense_Mutation_p.S201*|PAX3_ENST00000344493.4_Nonsense_Mutation_p.S201*|PAX3_ENST00000336840.6_Nonsense_Mutation_p.S201*|PAX3_ENST00000409551.3_Nonsense_Mutation_p.S200*|PAX3_ENST00000392070.2_Nonsense_Mutation_p.S201* NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 201 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCTTCATCTGATTGGGGTGC 0.428000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 14 49 0 0 1 0 0 TMEM143 55260 broad.mit.edu 37 19 48866599 48866599 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:48866599G>A ENST00000293261.3 - 2 529 c.213C>T c.(211-213)cgC>cgT p.R71R TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000436660.2_Silent_p.R71R|TMEM143_ENST00000377431.2_Silent_p.R71R|TMEM143_ENST00000435956.3_Silent_p.R71R NM_018273.2 NP_060743.2 Q96AN5 TM143_HUMAN transmembrane protein 143 71 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) TGAAGCGCTCGCGGTACTGCT 0.662000 34 26 0 0 1 0 0 FDXR 2232 broad.mit.edu 37 17 72859208 72859208 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:72859208G>A ENST00000442102.2 - 11 1550 c.1464C>T c.(1462-1464)ctC>ctT p.L488L FDXR_ENST00000581530.1_Silent_p.L451L|FDXR_ENST00000582944.1_Silent_p.L437L|FDXR_ENST00000293195.5_Silent_p.L445L|FDXR_ENST00000420580.2_Silent_p.L405L|FDXR_ENST00000583917.1_Silent_p.L417L|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000544854.1_Silent_p.L393L|FDXR_ENST00000413947.2_Silent_p.L476L NM_001258012.1 NP_001244941.1 P22570 ADRO_HUMAN ferredoxin reductase 445 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) CTCGGCTGCTGAGCAGGGCCT 0.677000 4 30 0 0 1 0 0 USP9Y 8287 broad.mit.edu 37 Y 14952494 14952494 + Silent SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chrY:14952494G>T ENST00000338981.3 + 36 6987 c.6042G>T c.(6040-6042)gtG>gtT p.V2014V USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 2014 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TTCAGTTTGTGAAAAAACTGC 0.323000 20 3 4.96729e-08 5.15241e-08 1 1 0 PTCHD3 374308 broad.mit.edu 37 10 27702331 27702331 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:27702331G>A ENST00000438700.3 - 1 966 c.849C>T c.(847-849)atC>atT p.I283I NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 283 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CGGGGAAGGAGATGCTGCTCA 0.617000 7 53 0 0 1 0 0 MIER1 57708 broad.mit.edu 37 1 67450443 67450443 + Missense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:67450443G>T ENST00000357692.2 + 15 1707 c.1450G>T c.(1450-1452)Gat>Tat p.D484Y MIER1_ENST00000371016.1_Intron|MIER1_ENST00000355356.3_Missense_Mutation_p.D467Y|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371018.3_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000401041.1_Missense_Mutation_p.D520Y|MIER1_ENST00000401042.3_Intron NM_001146110.1 NP_001139582.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 491 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 AAATGAAAATGATTTTGATGA 0.383000 13 41 2.27111e-07 2.35088e-07 1 1 0 COL27A1 85301 broad.mit.edu 37 9 117072974 117072974 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr9:117072974G>A ENST00000356083.3 + 61 5973 c.5582G>A c.(5581-5583)tGa>tAa p.*1861* NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 0 cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TGCTTCCTCTGACCTCTGACC 0.617000 53 11 0 0 1 0 0 DARS 1615 broad.mit.edu 37 2 136673798 136673798 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:136673798C>T ENST00000264161.4 - 11 1319 c.1104G>A c.(1102-1104)ctG>ctA p.L368L DARS_ENST00000537273.1_Silent_p.L268L NM_001349.2 NP_001340.2 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 368 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2) 15 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) AGACAAACCTCAGATCGTCTT 0.418000 24 18 0 0 1 0 0 RGS10 6001 broad.mit.edu 37 10 121285576 121285576 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:121285576C>T ENST00000392865.1 - 3 243 c.181G>A c.(181-183)Gaa>Aaa p.E61K RGS10_ENST00000369101.3_Missense_Mutation_p.E67K|RGS10_ENST00000469575.1_5'UTR|RGS10_ENST00000369103.2_Missense_Mutation_p.E75K NM_002925.3 NP_002916.1 O43665 RGS10_HUMAN regulator of G-protein signaling 10 67 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity breast(2)|large_intestine(1)|lung(3) 6 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) TTAAAATCTTCACATGCTAGC 0.308000 24 26 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33500049 33500049 + Nonsense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:33500049C>T ENST00000404816.2 + 17 3114 c.2761C>T c.(2761-2763)Cag>Tag p.Q921* LTBP1_ENST00000354476.3_Nonsense_Mutation_p.Q922*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.Q595*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.Q596*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.Q595*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.Q542*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.Q542* Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 921 EGF-like 5; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGAGTGTACTCAGGTCCAACA 0.413000 21 58 0 0 1 0 0 SNX15 29907 broad.mit.edu 37 11 64802362 64802362 + Silent SNP A A G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:64802362A>G ENST00000377244.3 + 4 430 c.300A>G c.(298-300)gcA>gcG p.A100A SNX15_ENST00000352068.5_Silent_p.A100A|RP11-399J13.3_ENST00000301886.3_3'UTR NM_013306.4|NM_147777.3 NP_037438.2|NP_680086.2 Q9NRS6 SNX15_HUMAN sorting nexin 15 100 PX. cell communication|intracellular protein transport cytoplasmic vesicle membrane|cytosol phosphatidylinositol binding|protein transporter activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 GAAAGGGGGCAGAGGACCTGC 0.612000 35 34 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76602978 76602978 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:76602978G>A ENST00000287239.4 + 3 852 c.363G>A c.(361-363)ccG>ccA p.P121P KAT6B_ENST00000372724.1_Silent_p.P121P|KAT6B_ENST00000372714.1_Silent_p.P121P|KAT6B_ENST00000372711.1_Silent_p.P121P|KAT6B_ENST00000372725.1_Silent_p.P121P NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 121 H15. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding TTGAGGAGCCGAATGGCTCCT 0.478000 75 69 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135778639 135778639 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:135778639C>G ENST00000367800.4 - 7 1360 c.1144G>C c.(1144-1146)Gat>Cat p.D382H AHI1_ENST00000457866.2_Missense_Mutation_p.D382H|AHI1_ENST00000327035.6_Missense_Mutation_p.D382H NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 382 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TACCTATCATCTTTCTTGACA 0.333000 6 17 0 0 1 0 0 RASGRP3 25780 broad.mit.edu 37 2 33741658 33741658 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:33741658G>A ENST00000403687.3 + 4 860 c.120G>A c.(118-120)ctG>ctA p.L40L RASGRP3_ENST00000402538.3_Silent_p.L40L|RASGRP3_ENST00000407811.1_Silent_p.L40L NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 40 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TAGTTCTACTGATGCACCGAT 0.328000 3 6 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19444545 19444545 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr18:19444545G>A ENST00000261537.6 + 21 3203 c.2939G>A c.(2938-2940)gGa>gAa p.G980E MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 980 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) TGTGGTCACGGAACCTGTCAA 0.388000 11 55 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47883073 47883073 + Missense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:47883073G>T ENST00000328771.4 + 14 3162 c.2813G>T c.(2812-2814)cGa>cTa p.R938L NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 938 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGTGCCATCCGACTCCTGGCG 0.657000 64 46 2.60599e-31 2.88212e-31 1 1 0 LVRN 206338 broad.mit.edu 37 5 115351059 115351059 + Missense_Mutation SNP A A G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:115351059A>G ENST00000357872.4 + 17 2685 c.2561A>G c.(2560-2562)gAa>gGa p.E854G AQPEP_ENST00000515454.1_3'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 854 proteolysis integral to membrane metallopeptidase activity|zinc ion binding AACAAAGAAGAAAAGATTCAA 0.353000 11 25 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166571930 166571930 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:166571930G>A ENST00000296946.2 - 9 1649 c.1181C>T c.(1180-1182)tCt>tTt p.S394F T_ENST00000366871.3_Missense_Mutation_p.S336F NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 394 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TCCCGAGGAAGAGGGCGCCGA 0.701000 Chordoma, Familial Clustering of 54 45 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42635357 42635357 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr20:42635357C>T ENST00000358131.5 + 3 571 c.363C>T c.(361-363)gcC>gcT p.A121A TOX2_ENST00000423191.2_Silent_p.A70A|TOX2_ENST00000341197.4_Silent_p.A112A|TOX2_ENST00000372999.1_Silent_p.A70A NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CCTATCAGGCCATGGACCTCC 0.642000 18 36 0 0 1 0 0 ZMAT4 79698 broad.mit.edu 37 8 40438739 40438739 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr8:40438739G>A ENST00000297737.6 - 6 765 c.619C>T c.(619-621)Cta>Tta p.L207L ZMAT4_ENST00000315769.7_Silent_p.L131L NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 207 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) ATTGAGTTTAGGGAGACACTG 0.438000 13 141 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102552143 102552143 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr14:102552143C>G ENST00000334701.7 - 4 1128 c.847G>C c.(847-849)Gct>Cct p.A283P HSP90AA1_ENST00000216281.8_Missense_Mutation_p.A161P|HSP90AA1_ENST00000441629.2_Intron NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 161 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) GACTCCCAAGCGTACTGCTCA 0.478000 36 14 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144060730 144060730 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:144060730G>A ENST00000056217.5 + 2 1142 c.968G>A c.(967-969)gGa>gAa p.G323E NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 323 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CCAGAACAGGGAGAAGAGAGG 0.542000 13 90 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5463270 5463270 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:5463270G>A ENST00000296564.7 + 13 4045 c.3823G>A c.(3823-3825)Gaa>Aaa p.E1275K NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1275 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AACAAATTCTGAAGATTGCAA 0.348000 4 22 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93090216 93090216 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:93090216G>C ENST00000359558.2 - 10 966 c.667C>G c.(667-669)Ctt>Gtt p.L223V CALCR_ENST00000426151.1_Missense_Mutation_p.L189V|CALCR_ENST00000394441.1_Missense_Mutation_p.L189V|CALCR_ENST00000360249.4_Missense_Mutation_p.L205V|CALCR_ENST00000421592.1_Missense_Mutation_p.L205V NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 205 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) ATGTAAGTAAGAAACATGTTC 0.438000 4 82 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239789 3239789 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chrX:3239789G>A ENST00000217939.6 - 5 4091 c.3937C>T c.(3937-3939)Ctt>Ttt p.L1313F NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1313 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTGACTGGAAGTGTCTCTTGG 0.363000 59 6 0 0 1 0 0 ST3GAL4 6484 broad.mit.edu 37 11 126279195 126279195 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:126279195C>T ENST00000526727.1 + 8 1034 c.660C>T c.(658-660)ctC>ctT p.L220L ST3GAL4_ENST00000532243.1_Silent_p.L219L|ST3GAL4_ENST00000530591.1_Silent_p.L216L|ST3GAL4_ENST00000392669.2_Silent_p.L220L|ST3GAL4_ENST00000227495.6_Silent_p.L216L|ST3GAL4_ENST00000534457.1_Silent_p.L215L|ST3GAL4_ENST00000444328.2_Silent_p.L220L|ST3GAL4_ENST00000534083.1_Silent_p.L220L|ST3GAL4_ENST00000449406.2_Silent_p.L209L|ST3GAL4_ENST00000356132.4_Silent_p.L226L Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 4 220 post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) AGCCTCCCCTCATCTGGGATG 0.517000 43 87 0 0 1 0 0 TEF 7008 broad.mit.edu 37 22 41791841 41791841 + Silent SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr22:41791841C>A ENST00000266304.4 + 4 905 c.789C>A c.(787-789)atC>atA p.I263I TEF_ENST00000406644.3_Silent_p.I233I NM_003216.3 NP_003207.1 Q10587 TEF_HUMAN thyrotrophic embryonic factor 263 rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 AGATCACCATCCGGGCAGCCT 0.577000 30 52 1.06801e-11 1.13604e-11 1 1 0 ZNF610 162963 broad.mit.edu 37 19 52857575 52857575 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:52857575C>G ENST00000403906.3 + 5 718 c.262C>G c.(262-264)Caa>Gaa p.Q88E ZNF610_ENST00000327920.8_Missense_Mutation_p.Q88E|ZNF610_ENST00000601151.1_Intron|ZNF610_ENST00000321287.8_Missense_Mutation_p.Q88E NM_001161425.1 NP_001154897.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 88 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) TCTGCAAAGTCAAGTTAAAAT 0.378000 34 18 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75527728 75527728 + Missense_Mutation SNP T T C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:75527728T>C ENST00000339365.2 + 16 2306 c.2144T>C c.(2143-2145)cTc>cCc p.L715P SEC24C_ENST00000345254.4_Missense_Mutation_p.L715P|SEC24C_ENST00000411652.2_Missense_Mutation_p.L596P|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000496827.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 715 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) GTGCCCCAGCTCACTGGTGGC 0.522000 11 20 0 0 1 0 0 PDE8A 5151 broad.mit.edu 37 15 85666302 85666302 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr15:85666302C>T ENST00000310298.4 + 20 2215 c.1963C>T c.(1963-1965)Cgg>Tgg p.R655W PDE8A_ENST00000339708.5_Missense_Mutation_p.R609W|PDE8A_ENST00000557957.1_Missense_Mutation_p.R583W|PDE8A_ENST00000394553.1_Missense_Mutation_p.R655W O60658 PDE8A_HUMAN phosphodiesterase 8A 655 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) GAATGATTATCGGACACTGCG 0.423000 35 20 0 0 1 0 0 ARMC10 83787 broad.mit.edu 37 7 102724142 102724142 + Missense_Mutation SNP T T A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:102724142T>A ENST00000323716.3 + 3 650 c.258T>A c.(256-258)gaT>gaA p.D86E ARMC10_ENST00000441711.2_Missense_Mutation_p.D51E|ARMC10_ENST00000425331.1_Missense_Mutation_p.D51E|ARMC10_ENST00000428183.2_Missense_Mutation_p.D86E|ARMC10_ENST00000541300.1_Missense_Mutation_p.D51E|ARMC10_ENST00000454559.1_Missense_Mutation_p.D51E NM_031905.4 NP_114111.2 Q8N2F6 ARM10_HUMAN armadillo repeat containing 10 86 regulation of growth endoplasmic reticulum membrane|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 11 ACTTAACTGATGGTTCATATG 0.373000 38 13 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34858945 34858945 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:34858945C>G ENST00000431794.3 - 21 2594 c.2072G>C c.(2071-2073)gGg>gCg p.G691A MYO19_ENST00000268852.9_Missense_Mutation_p.G491A NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 691 mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ACCAGGGAGCCCTTTGGCAGG 0.527000 74 88 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5282745 5282745 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr20:5282745C>G ENST00000546004.1 - 3 1342 c.1096G>C c.(1096-1098)Gac>Cac p.D366H PROKR2_ENST00000217270.3_Missense_Mutation_p.D366H Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 366 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 GTTCTGAGGTCAAGGTCAGCA 0.547000 HNSCC(71;0.22) 16 48 0 0 1 0 0 UBE2L3 7332 broad.mit.edu 37 22 21965299 21965299 + Nonsense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr22:21965299G>T ENST00000342192.4 + 3 475 c.277G>T c.(277-279)Gaa>Taa p.E93* UBE2L3_ENST00000458578.2_Nonsense_Mutation_p.E151*|UBE2L3_ENST00000545681.1_Nonsense_Mutation_p.E61* NM_003347.3 NP_003338.1 P68036 UB2L3_HUMAN ubiquitin-conjugating enzyme E2L 3 93 cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity UBE2L3/KRAS(2) large_intestine(4) 4 Colorectal(54;0.105) AATTAGTGCCGAAAACTGGAA 0.512000 8 42 0.000274275 0.00027704 1 1 0 KLHL4 56062 broad.mit.edu 37 X 86880669 86880669 + Silent SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chrX:86880669C>G ENST00000373119.4 + 6 1342 c.1197C>G c.(1195-1197)ctC>ctG p.L399L KLHL4_ENST00000373114.4_Silent_p.L399L NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 399 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GTCAGAAGCTCCTGATGGAAG 0.433000 29 3 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100988366 100988366 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:100988366C>G ENST00000193391.7 - 8 1067 c.880G>C c.(880-882)Gaa>Caa p.E294Q NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 294 SEA 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TACCTAAATTCAAGTACACGA 0.269000 17 25 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71941240 71941240 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:71941240G>C ENST00000298229.2 + 9 1219 c.1015G>C c.(1015-1017)Gag>Cag p.E339Q INPPL1_ENST00000541756.1_Missense_Mutation_p.E97Q|INPPL1_ENST00000538751.1_Missense_Mutation_p.E97Q NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 339 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CGTGGATGTGGAGGGTGGGCG 0.637000 17 28 0 0 1 0 0 METAP1D 254042 broad.mit.edu 37 2 172930476 172930476 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:172930476G>C ENST00000315796.4 + 4 880 c.493G>C c.(493-495)Gac>Cac p.D165H METAP1D_ENST00000488581.1_Intron NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 165 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 TGGTATTCCTGACAGGTATTC 0.358000 7 17 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189026007 189026007 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:189026007C>G ENST00000512729.1 - 2 493 c.119G>C c.(118-120)aGa>aCa p.R40T TRIML2_ENST00000536972.1_Missense_Mutation_p.R90T|TRIML2_ENST00000326754.3_Missense_Mutation_p.R40T NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 40 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CATCGCCATTCTTTCTTGCTC 0.363000 33 20 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133238238 133238238 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:133238238C>T ENST00000320574.5 - 24 2782 c.2739G>A c.(2737-2739)ctG>ctA p.L913L POLE_ENST00000535270.1_Silent_p.L886L NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 913 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) ACGGCTCAGCCAGCTCCTGGT 0.542000 DNA polymerases (catalytic subunits) 69 207 0 0 1 0 0 IQCF1 132141 broad.mit.edu 37 3 51929156 51929156 + Missense_Mutation SNP C C T rs146704652 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:51929156C>T ENST00000310914.5 - 4 430 c.368G>A c.(367-369)cGg>cAg p.R123Q NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 123 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCACTCCTTCCGGGAGAAGGC 0.607000 46 63 0 0 1 0 0 TMEM243 79161 broad.mit.edu 37 7 86826053 86826053 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:86826053C>G ENST00000433078.1 - 5 697 c.256G>C c.(256-258)Gac>Cac p.D86H TMEM243_ENST00000481425.1_5'UTR|TMEM243_ENST00000257637.3_Missense_Mutation_p.D86H transmembrane protein 243, mitochondrial GGTTCTAAGTCTCCTTGTCGA 0.279000 9 21 0 0 1 0 0 ZIC5 85416 broad.mit.edu 37 13 100622424 100622424 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr13:100622424G>A ENST00000267294.4 - 1 1739 c.1506C>T c.(1504-1506)ttC>ttT p.F502F NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 502 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CGGAGCGCGCGAAGACCTTGC 0.662000 32 53 0 0 1 0 0 SORT1 6272 broad.mit.edu 37 1 109897036 109897036 + Missense_Mutation SNP T T G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:109897036T>G ENST00000256637.6 - 5 719 c.661A>C c.(661-663)Atg>Ctg p.M221L SORT1_ENST00000538502.1_Missense_Mutation_p.M85L NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 221 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) GGGCTATACATCATCTGAGTG 0.403000 19 44 0 0 1 0 0 HEATR5A 25938 broad.mit.edu 37 14 31785008 31785008 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr14:31785008C>G ENST00000543095.2 - 27 4370 c.4186G>C c.(4186-4188)Gag>Cag p.E1396Q HEATR5A_ENST00000439348.1_Missense_Mutation_p.E1390Q|HEATR5A_ENST00000439727.1_Missense_Mutation_p.E1103Q|HEATR5A_ENST00000389961.3_Missense_Mutation_p.E1390Q NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1390 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) GCTAAGATCTCCATGGTAGAA 0.373000 12 3 0 0 1 0 0 LINC00691 152024 broad.mit.edu 37 3 24138771 24138771 + RNA SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:24138771C>T ENST00000436123.1 - 0 1952 CGAAACCGATCATCTTCATCG 0.453000 3 16 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167031856 167031856 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:167031856G>A ENST00000392766.2 - 16 1663 c.1323C>T c.(1321-1323)ggC>ggT p.G441G ZBBX_ENST00000392767.2_Silent_p.G441G|ZBBX_ENST00000307529.5_Silent_p.G441G|ZBBX_ENST00000455345.2_Silent_p.G441G|ZBBX_ENST00000392764.1_Silent_p.G412G NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 441 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 GTTGATGGATGCCATTTTCAT 0.299000 17 57 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181708285 181708285 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:181708285G>A ENST00000526775.1 + 24 3723 c.3558G>A c.(3556-3558)atG>atA p.M1186I CACNA1E_ENST00000367573.2_Missense_Mutation_p.M1205I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M1205I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M1156I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.M812I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M1186I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M1137I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1205 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 TTCTGCAGATGATAGACCAAG 0.537000 22 96 0 0 1 0 0 BBS5 129880 broad.mit.edu 37 2 170343586 170343586 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:170343586C>T ENST00000295240.3 + 3 526 c.150C>T c.(148-150)ctC>ctT p.L50L BBS5_ENST00000554017.1_Silent_p.L50L|RP11-724O16.1_ENST00000513963.1_Silent_p.L50L|BBS5_ENST00000392663.2_Silent_p.L50L NM_152384.2 NP_689597.1 Bardet-Biedl syndrome 5 endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 TAGGTAGACTCTTGGTAACAA 0.338000 Bardet-Biedl syndrome 4 103 0 0 1 0 0 QRSL1 55278 broad.mit.edu 37 6 107110891 107110891 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:107110891G>A ENST00000369046.4 + 10 1301 c.1197G>A c.(1195-1197)gtG>gtA p.V399V NM_018292.4 NP_060762.3 Q9H0R6 QRSL1_HUMAN glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 399 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) CACAGAAAGTGAGACGCCTCA 0.348000 35 21 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64960285 64960285 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:64960285C>T ENST00000399262.2 - 11 5445 c.5227G>A c.(5227-5229)Gaa>Aaa p.E1743K JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1524K|JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1561K NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1743 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GCTGGTTCTTCTCCTTTTTTA 0.358000 4 17 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22826011 22826011 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:22826011C>T ENST00000261374.3 + 1 514 c.80C>T c.(79-81)tCg>tTg p.S27L NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 27 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) TTCACGCTCTCGCTCTCCTGC 0.726000 6 9 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146268656 146268656 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:146268656G>A ENST00000367503.3 - 6 1583 c.1185C>T c.(1183-1185)gtC>gtT p.V395V SHPRH_ENST00000275233.7_Silent_p.V395V|SHPRH_ENST00000367505.2_Silent_p.V395V|SHPRH_ENST00000438092.2_Silent_p.V395V NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 395 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CATCTTGCTTGACATCTTGTC 0.473000 44 49 0 0 1 0 0 IL4I1 259307 broad.mit.edu 37 19 50398435 50398435 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:50398435G>A ENST00000595948.1 - 6 941 c.321C>T c.(319-321)gtC>gtT p.V107V IL4I1_ENST00000341114.3_Silent_p.V107V|IL4I1_ENST00000391826.2_Silent_p.V85V NM_001258018.1 NP_001244947.1 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 85 lysosome L-amino-acid oxidase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) CCAGGATGGTGACCTGAGGGA 0.657000 12 22 0 0 1 0 0 NUDT5 11164 broad.mit.edu 37 10 12209770 12209770 + Silent SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:12209770G>C ENST00000491614.1 - 10 986 c.591C>G c.(589-591)gtC>gtG p.V197V NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Silent_p.V210V|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000304267.8_Intron|NUDT5_ENST00000537776.1_Silent_p.V197V Q9UKK9 NUDT5_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 5 197 Nudix hydrolase. D-ribose catabolic process|ribonucleoside diphosphate catabolic process intracellular ADP-ribose diphosphatase activity|magnesium ion binding breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1) 8 Renal(717;0.228) CGTAGGAATAGACCCTGGCGT 0.413000 23 57 0 0 1 0 0 MRPL38 64978 broad.mit.edu 37 17 73898165 73898165 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:73898165C>T ENST00000309352.3 - 3 855 c.318G>A c.(316-318)cgG>cgA p.R106R MRPL38_ENST00000409963.3_5'UTR|MRPL38_ENST00000585475.1_5'UTR NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 106 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) TGGCCTGTTTCCGTTCCAGTA 0.582000 7 13 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24807160 24807160 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr14:24807160C>G ENST00000216274.5 - 6 969 c.751G>C c.(751-753)Gag>Cag p.E251Q NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 251 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) CCGGGAGTCTCAGGCCCGGCT 0.597000 55 12 0 0 1 0 0 EVI2A 2123 broad.mit.edu 37 17 29645572 29645572 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:29645572G>C ENST00000247270.3 - 3 865 c.529C>G c.(529-531)Cta>Gta p.L177V EVI2A_ENST00000462804.2_Missense_Mutation_p.L154V|EVI2A_ENST00000461237.1_Missense_Mutation_p.L154V|NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.S93C|NF1_ENST00000358273.4_Intron NM_001003927.2 NP_001003927.1 P22794 EVI2A_HUMAN ecotropic viral integration site 2A 154 integral to membrane transmembrane receptor activity p.0?(8)|p.?(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) ACAGTTGATAGAAATAGAAAG 0.393000 17 31 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180634321 180634321 + Silent SNP G G A rs61744327 byFrequency TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:180634321G>A ENST00000410066.1 - 3 765 c.162C>T c.(160-162)aaC>aaT p.N54N NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 54 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) GGGATTTGCCGTTGGAATGCA 0.567000 15 35 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55386818 55386818 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:55386818G>A ENST00000355524.3 + 2 77 c.67G>A c.(67-69)Gaa>Aaa p.E23K FCAR_ENST00000353758.4_Intron|FCAR_ENST00000359272.4_Intron|FCAR_ENST00000345937.4_Missense_Mutation_p.E23K|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000391725.3_Missense_Mutation_p.E23K|FCAR_ENST00000469767.1_Missense_Mutation_p.E23K|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Intron NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 23 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) TCAGGCACAGGAAGGTAAGTG 0.438000 28 253 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124418747 124418747 + Silent SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:124418747G>C ENST00000291478.5 + 23 2935 c.2772G>C c.(2770-2772)tcG>tcC p.S924S KALRN_ENST00000428018.2_Silent_p.S892S|KALRN_ENST00000360013.3_Silent_p.S2621S NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CAGTGGCTTCGACCTTGGACA 0.512000 38 115 0 0 1 0 0 TNNI3K 51086 broad.mit.edu 37 1 74929232 74929232 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:74929232G>A ENST00000370891.2 + 23 2438 c.2422G>A c.(2422-2424)Gaa>Aaa p.E808K TNNI3K_ENST00000326637.3_Missense_Mutation_p.E707K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E808K|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E821K NM_001112808.2 NP_001106279.2 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 CGCATGTCCTGAAGTGAGTAA 0.413000 13 235 0 0 1 0 0 SNX18 112574 broad.mit.edu 37 5 53814457 53814457 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:53814457G>A ENST00000343017.6 + 1 869 c.675G>A c.(673-675)gtG>gtA p.V225V SNX18_ENST00000326277.3_Silent_p.V225V|SNX18_ENST00000381410.4_Silent_p.V225V NM_001145427.1 NP_001138899.1 Q96RF0 SNX18_HUMAN sorting nexin 18 225 cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 18 Lung NSC(810;3.46e-05)|Breast(144;0.102) CGGCCACCGTGAGCCGCAACC 0.701000 18 50 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640569 57640569 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:57640569G>C ENST00000254181.4 + 4 980 c.526G>C c.(526-528)Gat>Cat p.D176H USP29_ENST00000598197.1_Missense_Mutation_p.D176H NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 176 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACTATCATCTGATGTACAGAC 0.353000 30 118 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98824581 98824581 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:98824581G>C ENST00000266058.4 - 6 783 c.538C>G c.(538-540)Ctg>Gtg p.L180V SLIT1_ENST00000371041.3_Missense_Mutation_p.L180V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.L180V NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 180 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) AGCCCCCGCAGAGCACGGAAG 0.582000 26 104 0 0 1 0 0 LYPD3 27076 broad.mit.edu 37 19 43967302 43967302 + Missense_Mutation SNP C C T rs149622525 byFrequency TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:43967302C>T ENST00000244333.3 - 4 608 c.520G>A c.(520-522)Gac>Aac p.D174N NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 174 UPAR/Ly6 2. anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACGTTGCCGTCGAAGCAGCCC 0.657000 52 59 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132409476 132409476 + Nonsense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:132409476C>T ENST00000337331.5 - 19 2675 c.2589G>A c.(2587-2589)tgG>tgA p.W863* NPHP3_ENST00000326682.8_3'UTR NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 863 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTGCACTTCTCCAAGTCACTC 0.408000 31 48 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 988982 988982 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:988982C>T ENST00000315939.6 + 11 3260 c.2617C>T c.(2617-2619)Ctg>Ttg p.L873L WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Silent_p.L1371L|WNK1_ENST00000340908.4_Silent_p.L466L|WNK1_ENST00000537687.1_Intron NM_018979.3 NP_061852.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 873 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TACTCAGCCTCTGCTCACGTT 0.532000 34 74 0 0 1 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14974888 14974888 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:14974888G>A ENST00000453695.2 - 9 829 c.385C>T c.(385-387)Cgc>Tgc p.R129C DCLRE1C_ENST00000378254.1_Missense_Mutation_p.R129C|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.R249C|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.R134C|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.R249C|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.R134C|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.R129C|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.R129C|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.R129C|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.R134C NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 249 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 TGAGTGTTGCGGTCTGTTGTG 0.418000 Non-homologous end-joining 19 63 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99130304 99130304 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:99130304G>A ENST00000370992.4 - 23 2708 c.2597C>T c.(2596-2598)aCc>aTc p.T866I RRP12_ENST00000536831.1_Missense_Mutation_p.T584I|RRP12_ENST00000414986.1_Missense_Mutation_p.T805I|RRP12_ENST00000315563.6_Missense_Mutation_p.T766I|RRP12_ENST00000479481.1_5'UTR NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 866 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) CACCTCCTTGGTGCACAGGAT 0.597000 14 38 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75527713 75527713 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:75527713C>G ENST00000339365.2 + 16 2291 c.2129C>G c.(2128-2130)tCt>tGt p.S710C SEC24C_ENST00000345254.4_Missense_Mutation_p.S710C|SEC24C_ENST00000411652.2_Missense_Mutation_p.S591C|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000496827.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 710 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) GCCACACTCTCTGTTGTGCCC 0.537000 13 16 0 0 1 0 0 LIN28A 79727 broad.mit.edu 37 1 26737974 26737974 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:26737974C>T ENST00000326279.6 + 2 243 c.129C>T c.(127-129)atC>atT p.I43I LIN28A_ENST00000254231.4_Silent_p.I43I NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 43 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 GTGCGGGCATCTGTAAGTGGT 0.711000 11 24 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588568 20588568 + RNA SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr15:20588568C>T ENST00000428453.1 - 0 4182 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TGCAGAAGCCCAGTAGGCATC 0.453000 8 11 0 0 1 0 0 HNRNPA0 10949 broad.mit.edu 37 5 137088854 137088854 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:137088854C>G ENST00000314940.4 - 1 1185 c.902G>C c.(901-903)gGa>gCa p.G301A NM_006805.3 NP_006796.1 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 301 Gly-rich. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding large_intestine(1)|lung(2)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGAGCTGCCTCCATAGCCACC 0.592000 9 44 0 0 1 0 0 HUS1B 135458 broad.mit.edu 37 6 656479 656479 + Missense_Mutation SNP T T A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:656479T>A ENST00000380907.2 - 1 484 c.466A>T c.(466-468)Agc>Tgc p.S156C EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron NM_148959.3 NP_683762.2 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint homolog b (S. pombe) 156 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) AGGCGGATGCTCGCGTCGGAG 0.697000 38 79 0 0 1 0 0 SYT5 6861 broad.mit.edu 37 19 55690344 55690344 + Nonsense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:55690344G>T ENST00000590851.1 - 1 414 c.230C>A c.(229-231)tCa>tAa p.S77* SYT5_ENST00000354308.3_Silent_p.I22I|SYT5_ENST00000537500.1_Silent_p.I22I O00445 SYT5_HUMAN synaptotagmin V 370 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) GGCCGTGGCTGATGCGACTGG 0.687000 32 19 2.75727e-19 2.99652e-19 1 1 0 DDX4 54514 broad.mit.edu 37 5 55077779 55077779 + Nonsense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:55077779C>T ENST00000505374.1 + 10 687 c.595C>T c.(595-597)Caa>Taa p.Q199* DDX4_ENST00000354991.5_Nonsense_Mutation_p.Q165*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.Q179*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.Q66*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.Q165* NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 199 Gly-rich. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TGATACTTCTCAAAGCAGAAG 0.338000 14 17 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112630478 112630478 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:112630478C>A ENST00000550722.1 - 59 9135 c.8740G>T c.(8740-8742)Gcc>Tcc p.A2914S HECTD4_ENST00000430131.2_Missense_Mutation_p.A2638S|HECTD4_ENST00000377560.5_Missense_Mutation_p.A2888S NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TAACAGGCGGCCTCGATGAGG 0.632000 5 5 0.014758 0.0147875 1 1 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 99003773 99003773 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:99003773G>A ENST00000453547.2 - 8 1136 c.1137C>T c.(1135-1137)caC>caT p.H379H ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.H379H|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.H350H|ARHGAP19_ENST00000371027.1_Silent_p.H370H|ARHGAP19_ENST00000358531.4_Silent_p.H379H|ARHGAP19_ENST00000355366.5_Silent_p.H370H TATCATGAACGTGTTGAAACA 0.498000 41 28 0 0 1 0 0 CA4 762 broad.mit.edu 37 17 58227431 58227431 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:58227431G>A ENST00000300900.4 + 1 135 c.36G>A c.(34-36)gcG>gcA p.A12A NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 12 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CCCTCTCCGCGGCGCGGCCAT 0.751000 17 11 0 0 1 0 0 PRF1 5551 broad.mit.edu 37 10 72358421 72358421 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:72358421G>A ENST00000441259.1 - 3 1216 c.1056C>T c.(1054-1056)agC>agT p.S352S PRF1_ENST00000373209.2_Silent_p.S352S NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 352 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 GCGGGTCCTGGCTGTCCAGCA 0.711000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 11 27 0 0 1 0 0 KAT5 10524 broad.mit.edu 37 11 65480946 65480946 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:65480946C>T ENST00000341318.4 + 4 746 c.512C>T c.(511-513)tCc>tTc p.S171F KAT5_ENST00000534650.1_Intron|KAT5_ENST00000530446.1_Intron|KAT5_ENST00000377046.3_Missense_Mutation_p.S138F|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000352980.4_Intron NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 138 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 TCCTCCAGCTCCTGCCTGCAG 0.612000 55 35 0 0 1 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64695868 64695868 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:64695868C>T ENST00000164133.2 + 6 1315 c.693C>T c.(691-693)atC>atT p.I231I NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 231 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 GGGCCTACATCCGCAAACAGT 0.592000 8 54 0 0 1 0 0 GPR151 134391 broad.mit.edu 37 5 145894881 145894881 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:145894881C>T ENST00000311104.2 - 1 872 c.796G>A c.(796-798)Gaa>Aaa p.E266K NM_194251.2 NP_919227.2 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 266 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTACCCATTCGGGGAGCCAC 0.507000 15 42 0 0 1 0 0 BNIP1 662 broad.mit.edu 37 5 172571488 172571488 + Translation_Start_Site SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:172571488G>A ENST00000231668.9 + 0 44 CTC-209H22.3_ENST00000521251.1_RNA NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) AGGGAAAGAAGGTGGTGCGAA 0.637000 OREG0017054 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 7 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160287599 160287599 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:160287599C>G ENST00000392783.2 - 10 2464 c.1969G>C c.(1969-1971)Gat>Cat p.D657H BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D657H|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D655H NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 657 Asp/Glu-rich (acidic). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TCTGATTCATCTTGGTCTTTA 0.353000 7 46 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80256710 80256710 + Silent SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:80256710C>G ENST00000265080.4 + 1 220 c.153C>G c.(151-153)ctC>ctG p.L51L CTC-459I6.1_ENST00000505694.1_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 51 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AGAATGTGCTCTTCTACTTCG 0.687000 10 26 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12541736 12541736 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:12541736C>G ENST00000301547.5 - 4 1447 c.1250G>C c.(1249-1251)gGa>gCa p.G417A CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 417 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 AGGTCCATCTCCAGTGTGCAT 0.418000 63 64 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87943104 87943104 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:87943104C>G ENST00000369577.3 + 5 643 c.600C>G c.(598-600)atC>atG p.I200M ZNF292_ENST00000339907.4_Missense_Mutation_p.I195M NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AACATCTAATCAAAACAAATC 0.328000 23 25 0 0 1 0 0 SLC25A45 283130 broad.mit.edu 37 11 65147614 65147614 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:65147614C>G ENST00000534028.1 - 2 491 c.70G>C c.(70-72)Gac>Cac p.D24H SLC25A45_ENST00000527174.1_Missense_Mutation_p.D24H|SLC25A45_ENST00000417511.2_5'UTR|SLC25A45_ENST00000294187.6_5'UTR|SLC25A45_ENST00000526432.1_Missense_Mutation_p.D24H|SLC25A45_ENST00000360662.3_Missense_Mutation_p.D24H|SLC25A45_ENST00000398802.1_Missense_Mutation_p.D24H|SLC25A45_ENST00000377152.2_5'UTR NM_001278250.1 NP_001265179.1 Q8N413 S2545_HUMAN solute carrier family 25, member 45 24 transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 TTTACAGTGTCAAACGGGTGT 0.567000 18 79 0 0 1 0 0 SYTL5 94122 broad.mit.edu 37 X 37969647 37969647 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chrX:37969647G>A ENST00000357972.5 + 13 2054 c.1508G>A c.(1507-1509)cGt>cAt p.R503H SYTL5_ENST00000297875.2_Missense_Mutation_p.R503H|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.R525H Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 503 C2 1. intracellular protein transport membrane metal ion binding|Rab GTPase binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 CGATTTGGACGTAATAGCTTC 0.438000 3 48 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64428387 64428387 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:64428387C>T ENST00000265459.6 - 10 2484 c.2023G>A c.(2023-2025)Gag>Aag p.E675K NRXN2_ENST00000409571.1_Missense_Mutation_p.E668K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E675K|NRXN2_ENST00000377559.3_Missense_Mutation_p.E644K|NRXN2_ENST00000496291.1_5'UTR NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 675 Laminin G-like 3. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CCCTGAGCCTCAGCCAGGCCC 0.672000 12 35 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23890220 23890220 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr14:23890220C>G ENST00000355349.3 - 26 3445 c.3283G>C c.(3283-3285)Gag>Cag p.E1095Q NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1095 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGTTCATCCTCAATCCTTGCG 0.587000 24 4 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36964275 36964275 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:36964275C>T ENST00000454319.1 - 3 229 c.95G>A c.(94-96)aGa>aAa p.R32K ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000424129.2_Missense_Mutation_p.R32K|ZNF566_ENST00000392170.2_Missense_Mutation_p.R32K|ZNF566_ENST00000434377.2_Missense_Mutation_p.R32K|ZNF566_ENST00000493391.1_Intron NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) CATCACATCTCTGTATAAATC 0.438000 13 52 0 0 1 0 0 VAMP2 6844 broad.mit.edu 37 17 8065084 8065084 + Translation_Start_Site SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:8065084C>T ENST00000404970.3 - 0 201 VAMP2_ENST00000316509.6_Splice_Site_p.V42M|VAMP2_ENST00000488857.1_Splice_Site_p.V44M|VAMP2_ENST00000481878.1_Splice_Site_p.V42M|RP11-599B13.6_ENST00000498285.1_Splice_Site_p.V42M P63027 VAMP2_HUMAN vesicle-associated membrane protein 2 (synaptobrevin 2) energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome Botulinum Toxin Type B(DB00042) ATGTCCACCACCTGGGAGAAG 0.632000 22 14 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26587129 26587129 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:26587129C>G ENST00000436318.2 - 2 491 c.358G>C c.(358-360)Gca>Cca p.A120P ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.A120P|MUC15_ENST00000527569.1_Missense_Mutation_p.A120P|MUC15_ENST00000281268.8_Missense_Mutation_p.A120P|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.A93P|ANO3_ENST00000531568.1_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 93 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 GAATGCTCTGCTGATGAGTTA 0.438000 37 20 0 0 1 0 0 SHCBP1 79801 broad.mit.edu 37 16 46642219 46642219 + Silent SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:46642219G>T ENST00000303383.3 - 5 945 c.679C>A c.(679-681)Cga>Aga p.R227R NM_024745.4 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 227 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) AATCTTAATCGAGGTTCAACA 0.358000 4 24 0.014758 0.0147875 1 1 0 EIF3B 8662 broad.mit.edu 37 7 2402753 2402753 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:2402753C>T ENST00000360876.4 + 4 917 c.861C>T c.(859-861)ttC>ttT p.F287F EIF3B_ENST00000397011.2_Silent_p.F287F NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 287 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) AACAGCCTTTCAAAGACCTGG 0.517000 41 174 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38637000 38637000 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:38637000C>A ENST00000254051.6 - 9 1851 c.1693G>T c.(1693-1695)Gcc>Tcc p.A565S NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 565 Phosphatase tensin-type. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GAGTCCGAGGCCCCATCTGCA 0.617000 11 39 0.00010058 0.000102212 1 1 0 CCDC36 339834 broad.mit.edu 37 3 49292905 49292905 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:49292905G>C ENST00000438782.1 + 7 851 c.615G>C c.(613-615)gaG>gaC p.E205D CCDC36_ENST00000296449.5_Missense_Mutation_p.E205D|CCDC36_ENST00000452691.2_Missense_Mutation_p.E205D Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 205 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CCATCCTTGAGATGAAGAAAA 0.408000 30 57 0 0 1 0 0 C10orf2 56652 broad.mit.edu 37 10 102747984 102747984 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:102747984G>A ENST00000370228.1 + 1 202 c.17G>A c.(16-18)cGa>cAa p.R6Q C10orf2_ENST00000311916.2_Missense_Mutation_p.R6Q|C10orf2_ENST00000473656.1_Intron NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 6 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) GTCCTCCTCCGAAGTGGGTAC 0.582000 23 56 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60642417 60642417 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:60642417C>G ENST00000278853.5 + 10 1584 c.1584C>G c.(1582-1584)ttC>ttG p.F528L NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 528 ZP. single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TTTACTTGTTCTGCAGCACCT 0.557000 23 60 0 0 1 0 0 SLK 9748 broad.mit.edu 37 10 105758909 105758909 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:105758909C>T ENST00000369755.3 + 6 1165 c.620C>T c.(619-621)tCt>tTt p.S207F SLK_ENST00000335753.4_Missense_Mutation_p.S207F NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 207 Protein kinase. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGTGAAACATCTAAGGACAGA 0.368000 17 24 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48423353 48423353 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:48423353C>T ENST00000296438.5 + 9 1335 c.1149C>T c.(1147-1149)atC>atT p.I383I FBXW12_ENST00000445170.1_Silent_p.I364I|FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000436231.1_Silent_p.I226I|FBXW12_ENST00000415155.1_Silent_p.I313I NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 383 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGGCAGCCATCAACAACTTCT 0.468000 32 51 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179639711 179639711 + Missense_Mutation SNP C C G rs138787974 byFrequency TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:179639711C>G ENST00000589042.1 - 29 6951 c.6727G>C c.(6727-6729)Gat>Cat p.D2243H TTN_ENST00000342175.6_Missense_Mutation_p.D2197H|TTN_ENST00000591111.1_Missense_Mutation_p.D2243H|TTN_ENST00000342992.6_Missense_Mutation_p.D2243H|TTN_ENST00000359218.5_Missense_Mutation_p.D2197H|TTN_ENST00000360870.5_Missense_Mutation_p.D2243H|TTN_ENST00000460472.2_Missense_Mutation_p.D2197H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1974 Ig-like 11. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCTGTAATCTTCAGCATCA 0.398000 15 23 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47163029 47163029 + Missense_Mutation SNP T T C rs145759179 byFrequency TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:47163029T>C ENST00000409792.3 - 3 3139 c.3097A>G c.(3097-3099)Aca>Gca p.T1033A NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1033 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCATGAACTGTAGACACAATT 0.368000 """N, F, S, Mis""" clear cell renal carcinoma 45 52 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2968224 2968224 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:2968224C>A ENST00000342628.2 - 10 2099 c.1986G>T c.(1984-1986)tgG>tgT p.W662C FOXM1_ENST00000361953.3_Missense_Mutation_p.W609C|FOXM1_ENST00000359843.3_Missense_Mutation_p.W624C|ITFG2_ENST00000545509.1_Intron NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 624 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) GCGTGAGCCTCCAGGATTCAG 0.602000 28 89 4.22769e-11 4.48745e-11 1 1 0 CXorf66 347487 broad.mit.edu 37 X 139038362 139038362 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chrX:139038362G>C ENST00000370540.1 - 3 802 c.779C>G c.(778-780)tCt>tGt p.S260C NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 260 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 AGCTAATTCAGAGTTGGATAA 0.418000 55 12 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6248606 6248606 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:6248606G>A ENST00000264870.3 - 6 1002 c.737C>T c.(736-738)gCa>gTa p.A246V NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 246 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GTCCATTTGTGCTCTGTCCAT 0.433000 9 20 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5418605 5418605 + Missense_Mutation SNP C C T rs139253606 byFrequency TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:5418605C>T ENST00000282908.5 + 6 928 c.506C>T c.(505-507)aCg>aTg p.T169M STK32B_ENST00000512636.1_Intron|STK32B_ENST00000510398.1_Missense_Mutation_p.T122M NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 169 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 AACATAGCGACGGTAGTGAAA 0.507000 8 28 0 0 1 0 0 ARSG 22901 broad.mit.edu 37 17 66366605 66366605 + Nonsense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:66366605C>T ENST00000448504.2 + 8 1718 c.922C>T c.(922-924)Cag>Tag p.Q308* ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Nonsense_Mutation_p.Q144* NM_014960.4 NP_055775.2 Q96EG1 ARSG_HUMAN arylsulfatase G 308 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) CCCGTGGGCTCAGAAGTGTGA 0.547000 36 16 0 0 1 0 0 CSTF2T 23283 broad.mit.edu 37 10 53459240 53459240 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:53459240G>A ENST00000331173.4 - 1 115 c.70C>T c.(70-72)Cca>Tca p.P24S PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 24 RRM. mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GCCTCATATGGAATGTTCCCC 0.517000 79 50 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33614363 33614363 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:33614363C>T ENST00000404816.2 + 32 5177 c.4824C>T c.(4822-4824)ttC>ttT p.F1608F LTBP1_ENST00000354476.3_Silent_p.F1609F|LTBP1_ENST00000407925.1_Silent_p.F1282F|LTBP1_ENST00000390003.4_Silent_p.F1283F|LTBP1_ENST00000272273.5_Silent_p.F506F|LTBP1_ENST00000418533.2_Silent_p.F1240F|LTBP1_ENST00000404525.1_Silent_p.F1229F|LTBP1_ENST00000402934.1_Silent_p.F1227F Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1608 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ATCCCTACTTCATCCAAGACC 0.463000 51 59 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228524792 228524792 + Missense_Mutation SNP A A G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:228524792A>G ENST00000570156.2 + 76 19570 c.19496A>G c.(19495-19497)cAg>cGg p.Q6499R OBSCN_ENST00000366707.4_Missense_Mutation_p.Q3176R|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q5542R|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q5542R|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q2661R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5542 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGACCTCCCAGATCACTGAG 0.622000 40 6 0 0 1 0 0 SEC14L1 6397 broad.mit.edu 37 17 75208187 75208187 + Silent SNP G G A rs139177480 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:75208187G>A ENST00000413679.2 + 15 2070 c.1767G>A c.(1765-1767)ggG>ggA p.G589G SEC14L1_ENST00000430767.4_Silent_p.G589G|SEC14L1_ENST00000431431.2_Silent_p.G555G|SEC14L1_ENST00000443798.4_Silent_p.G589G|SEC14L1_ENST00000591437.1_Silent_p.G555G|SEC14L1_ENST00000392476.2_Silent_p.G589G|SEC14L1_ENST00000436233.4_Silent_p.G589G|SEC14L1_ENST00000585618.1_Silent_p.G589G NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470|NP_001137471|NP_002994 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 589 GOLD. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 CTCCGGGTGGGAACAATGTGC 0.542000 92 285 0 0 1 0 0 KCTD3 51133 broad.mit.edu 37 1 215749295 215749295 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:215749295C>G ENST00000259154.4 + 4 529 c.235C>G c.(235-237)Cgg>Ggg p.R79G NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 79 BTB. voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) AAATTTTCTTCGGACAAAAGA 0.244000 7 13 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138968209 138968209 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:138968209C>G ENST00000473989.3 + 15 2558 c.2558C>G c.(2557-2559)tCt>tGt p.S853C UBN2_ENST00000288561.8_Missense_Mutation_p.S770C NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 ACTGGCATCTCTTCAGGCCTT 0.448000 24 58 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132407671 132407671 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:132407671C>A ENST00000337331.5 - 21 3034 c.2948G>T c.(2947-2949)aGa>aTa p.R983I NPHP3_ENST00000326682.8_3'UTR NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 983 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTGGGCTACTCTTGGGTGATC 0.473000 22 86 1.64293e-13 1.76255e-13 1 1 0 SMIM11 54065 broad.mit.edu 37 21 35757939 35757939 + Nonstop_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr21:35757939G>T ENST00000399295.2 + 3 546 c.176G>T c.(175-177)tGa>tTa p.*59L SMIM11_ENST00000481710.1_3'UTR|SMIM11_ENST00000399299.1_Intron|SMIM11_ENST00000399292.3_Nonstop_Mutation_p.*59L small integral membrane protein 11 AAAGATAACTGAAGGTGAGTC 0.463000 12 22 0.000151284 0.000153428 1 1 0 CNTN4 152330 broad.mit.edu 37 3 3072565 3072565 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:3072565C>T ENST00000397461.1 + 15 2073 c.1689C>T c.(1687-1689)atC>atT p.I563I CNTN4_ENST00000397459.2_Silent_p.I235I|CNTN4_ENST00000448906.2_Silent_p.I235I|CNTN4_ENST00000418658.1_Silent_p.I563I|CNTN4_ENST00000427331.1_Silent_p.I563I|CNTN4_ENST00000358480.3_Silent_p.I344I NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 563 Ig-like C2-type 6. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ATTTGATGATCCGAAACATCC 0.433000 10 55 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131976312 131976312 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:131976312G>A ENST00000356920.5 + 1 431 c.337G>A c.(337-339)Ggc>Agc p.G113S POTEE_ENST00000358087.5_Missense_Mutation_p.G113S|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 113 ATP binding CAGGGGGAGCGGCAAGAGCAA 0.607000 6 110 0 0 1 0 0 PITX3 5309 broad.mit.edu 37 10 103991526 103991526 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:103991526G>A ENST00000370002.3 - 3 293 c.140C>T c.(139-141)tCg>tTg p.S47L PITX3_ENST00000539804.1_Missense_Mutation_p.S47L NM_005029.3 NP_005020.1 O75364 PITX3_HUMAN paired-like homeodomain 3 47 dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(2) 5 Colorectal(252;0.00957) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCCGGGCAGCGAAGCCGAGGC 0.662000 3 8 0 0 1 0 0 UGT1A5 54579 broad.mit.edu 37 2 234622085 234622085 + Silent SNP C C T rs28946886 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:234622085C>T ENST00000373414.3 + 1 448 c.448C>T c.(448-450)Cta>Tta p.L150L UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Silent_p.L150L|UGT1A9_ENST00000354728.4_Intron cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) TGATGTGGTTCTAACAGACCC 0.453000 55 90 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90503512 90503512 + Silent SNP A A G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr9:90503512A>G ENST00000325643.5 + 4 4176 c.4110A>G c.(4108-4110)agA>agG p.R1370R NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 AACGTAGCAGAGAGATGAGAG 0.597000 25 38 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39086769 39086769 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr9:39086769C>G ENST00000297668.6 - 20 3371 c.3298G>C c.(3298-3300)Gat>Cat p.D1100H CNTNAP3_ENST00000358144.2_Missense_Mutation_p.D1012H|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.D1019H NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 1100 Laminin G-like 4. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AGTTGCCCATCAGCCATGTTT 0.338000 3 12 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45547985 45547985 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr21:45547985G>C ENST00000291576.7 + 18 2440 c.2313G>C c.(2311-2313)gaG>gaC p.E771D PWP2_ENST00000494310.1_3'UTR NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 771 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) GGCTCAACGAGAGCAAACTGG 0.677000 18 17 0 0 1 0 0 BTBD1 53339 broad.mit.edu 37 15 83735855 83735855 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr15:83735855C>T ENST00000261721.4 - 1 251 c.49G>A c.(49-51)Gag>Aag p.E17K BTBD1_ENST00000379403.2_Missense_Mutation_p.E17K|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 17 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) ggcTCCGCCTCAGCCCCCGAC 0.741000 5 1 0 0 1 0 0 CCDC97 90324 broad.mit.edu 37 19 41825733 41825733 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:41825733G>C ENST00000269967.3 + 3 879 c.757G>C c.(757-759)Gag>Cag p.E253Q NM_052848.1 NP_443080.1 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 253 p.E253K(1) biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 17 ggaagaggaagaggaggagga 0.607000 8 11 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74740463 74740463 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:74740463C>G ENST00000588460.1 + 7 2598 c.556C>G c.(556-558)Cta>Gta p.L186V MFSD11_ENST00000355954.3_Missense_Mutation_p.L134V|MFSD11_ENST00000593181.1_Missense_Mutation_p.L134V|MFSD11_ENST00000586622.1_Missense_Mutation_p.L186V|MFSD11_ENST00000590514.1_Missense_Mutation_p.L186V|MFSD11_ENST00000336509.4_Missense_Mutation_p.L186V NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 186 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 GGGGACAGTTCTATTCTTTCT 0.418000 21 47 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145558885 145558885 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:145558885C>G ENST00000355594.4 + 7 591 c.504C>G c.(502-504)atC>atG p.I168M ANKRD35_ENST00000544626.1_3'UTR NM_144698.3 NP_653299.4 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 168 p.I168M(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACGCAGCTATCTGCTCACAGC 0.572000 24 545 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179643809 179643809 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:179643809C>T ENST00000589042.1 - 24 4224 c.4000G>A c.(4000-4002)Gga>Aga p.G1334R TTN_ENST00000342175.6_Missense_Mutation_p.G1288R|TTN_ENST00000591111.1_Missense_Mutation_p.G1334R|TTN_ENST00000342992.6_Missense_Mutation_p.G1334R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G1288R|TTN_ENST00000360870.5_Missense_Mutation_p.G1334R|TTN_ENST00000460472.2_Missense_Mutation_p.G1288R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1334 Ig-like 5. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATCTTTCTCCATGTTTGATG 0.368000 20 15 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 64981652 64981652 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:64981652C>A ENST00000268603.4 - 13 2860 c.2245G>T c.(2245-2247)Ggc>Tgc p.G749C CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.G623C NM_001797.2 NP_001788.2 P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 749 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GCCACTGAGCCCCTGCCTTCA 0.507000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 40 66 9.14704e-12 9.75036e-12 1 1 0 OTOP3 347741 broad.mit.edu 37 17 72945380 72945380 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:72945380G>C ENST00000328801.4 + 7 1660 c.1660G>C c.(1660-1662)Gag>Cag p.E554Q NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 554 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) CCCGGAGTTTGAGAACGGGCT 0.557000 14 93 0 0 1 0 0 CERS4 79603 broad.mit.edu 37 19 8326714 8326714 + Missense_Mutation SNP A A T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:8326714A>T ENST00000558331.1 + 11 1297 c.838A>T c.(838-840)Atg>Ttg p.M280L CERS4_ENST00000559336.1_Intron|CERS4_ENST00000559450.1_Missense_Mutation_p.M331L|CERS4_ENST00000251363.5_Missense_Mutation_p.M331L|CERS4_ENST00000595722.1_3'UTR Q9HA82 CERS4_HUMAN ceramide synthase 4 331 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CTATAGCTTCATGAAGAAGGG 0.582000 11 43 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49425704 49425704 + Nonsense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:49425704G>A ENST00000301067.7 - 39 12783 c.12784C>T c.(12784-12786)Caa>Taa p.Q4262* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCCCCAAGTTGAGGTTGGCAG 0.706000 8 50 0 0 1 0 0 PRR5 55615 broad.mit.edu 37 22 45121151 45121151 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr22:45121151C>T ENST00000403581.1 + 5 921 c.312C>T c.(310-312)tcC>tcT p.S104S PRR5_ENST00000477331.1_Intron|ARHGAP8_ENST00000389773.5_Silent_p.S72S|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.S81S|PRR5_ENST00000336985.6_Silent_p.S81S|PRR5_ENST00000006251.7_Silent_p.S72S|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.S81S|ARHGAP8_ENST00000517296.3_Silent_p.S81S NM_001198721.1 NP_001185650.1 proline rich 5 (renal) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) AGCTGGGGTCCTTCTTCACGG 0.647000 3 52 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59942679 59942679 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr18:59942679G>A ENST00000256858.6 + 23 3290 c.3042G>A c.(3040-3042)gtG>gtA p.V1014V KIAA1468_ENST00000398130.2_Silent_p.V980V Q9P260 K1468_HUMAN KIAA1468 980 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) CAGCACTCGTGAGGTGTACTG 0.358000 11 9 0 0 1 0 0 PDE5A 8654 broad.mit.edu 37 4 120446713 120446713 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:120446713C>T ENST00000354960.3 - 12 2089 c.1770G>A c.(1768-1770)atG>atA p.M590I PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000264805.5_Missense_Mutation_p.M548I|PDE5A_ENST00000394439.1_Missense_Mutation_p.M538I|RP11-33B1.1_ENST00000498873.1_RNA NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 590 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) CCTCATGTTTCATCTGGAAGT 0.403000 11 23 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77651534 77651534 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:77651534G>A ENST00000461745.1 + 20 3928 c.3028G>A c.(3028-3030)Gaa>Aaa p.E1010K ROBO2_ENST00000332191.8_Missense_Mutation_p.E1010K|ROBO2_ENST00000487694.3_Missense_Mutation_p.E1026K NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1010 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.E1026*(1)|p.E1010*(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CAGCATACATGAATTGGCTGT 0.428000 24 38 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75527763 75527763 + Nonsense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:75527763C>T ENST00000339365.2 + 16 2341 c.2179C>T c.(2179-2181)Cag>Tag p.Q727* SEC24C_ENST00000345254.4_Nonsense_Mutation_p.Q727*|SEC24C_ENST00000411652.2_Nonsense_Mutation_p.Q608*|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000496827.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 727 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TGCTTCCTTTCAGGTATGGTG 0.493000 6 19 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75527625 75527625 + Nonsense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:75527625C>T ENST00000339365.2 + 16 2203 c.2041C>T c.(2041-2043)Cag>Tag p.Q681* SEC24C_ENST00000345254.4_Nonsense_Mutation_p.Q681*|SEC24C_ENST00000411652.2_Nonsense_Mutation_p.Q562*|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 681 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) AGGTGCCTATCAGACCCTGGC 0.493000 25 61 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88652241 88652241 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr14:88652241G>A ENST00000340700.5 - 7 1706 c.1255C>T c.(1255-1257)Cgg>Tgg p.R419W KCNK10_ENST00000319231.5_Missense_Mutation_p.R424W|KCNK10_ENST00000312350.5_Missense_Mutation_p.R424W NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 419 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TTGTTGGGCCGGTTGTTGATG 0.622000 28 12 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45958819 45958819 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr22:45958819G>C ENST00000402984.3 + 16 1942 c.1839G>C c.(1837-1839)gaG>gaC p.E613D FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.E575D P23142 FBLN1_HUMAN fibulin 1 584 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CTTGCCATGAGAATCGGGAGT 0.592000 108 198 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123384818 123384818 + Splice_Site SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:123384818G>A ENST00000275162.5 + 6 2231 c.e6-1 CLVS2_ENST00000368438.1_Splice_Site NM_001010852.3 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 ATCCTTTCCAGATCTCAATCA 0.388000 9 42 0 0 1 0 0 DPH2 1802 broad.mit.edu 37 1 44437073 44437073 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:44437073C>G ENST00000255108.3 + 4 671 c.499C>G c.(499-501)Ctc>Gtc p.L167V DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_Missense_Mutation_p.L32V|DPH2_ENST00000396758.2_Intron NM_001384.4 NP_001375.2 Q9BQC3 DPH2_HUMAN DPH2 homolog (S. cerevisiae) 167 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) TTTGGCTACTCTCCTGCGCCC 0.572000 77 58 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10387112 10387112 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:10387112C>T ENST00000397077.1 - 17 3099 c.2524G>A c.(2524-2526)Gtg>Atg p.V842M ATP2B2_ENST00000383800.4_Missense_Mutation_p.V842M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V887M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V887M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V873M Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 887 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ACGGCCACCACGTTGACGGTG 0.597000 37 50 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7574021 7574021 + Nonsense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:7574021C>A ENST00000269305.4 - 10 1195 c.1006G>T c.(1006-1008)Gag>Tag p.E336* TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E336*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 336 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. 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.0?(8)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(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) TCGAAGCGCTCACGCCCACGG 0.517000 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) 13 4 9.31168e-06 9.50133e-06 1 1 0 OTOP3 347741 broad.mit.edu 37 17 72945415 72945415 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:72945415G>C ENST00000328801.4 + 7 1695 c.1695G>C c.(1693-1695)caG>caC p.Q565H NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 565 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) ACGGCTACCAGATATGGTTCG 0.567000 14 96 0 0 1 0 0 TICAM1 148022 broad.mit.edu 37 19 4817081 4817081 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:4817081C>T ENST00000248244.5 - 2 1538 c.1309G>A c.(1309-1311)Ggg>Agg p.G437R NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 437 TIR. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CTCAGCTCCCCGCGCCCCGGC 0.637000 39 26 0 0 1 0 0 CSNK2B 1460 broad.mit.edu 37 6 31636389 31636389 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:31636389C>G ENST00000375880.2 + 4 367 c.249C>G c.(247-249)atC>atG p.I83M CSNK2B_ENST00000375885.4_Missense_Mutation_p.I102M|CSNK2B_ENST00000375866.2_Missense_Mutation_p.I83M|CSNK2B_ENST00000375882.2_Missense_Mutation_p.I83M|CSNK2B_ENST00000375865.2_Missense_Mutation_p.I83M ATGGATTGATCCACGCCCGCT 0.547000 105 68 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872896 55872896 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:55872896C>T ENST00000313503.1 + 1 378 c.378C>T c.(376-378)atC>atT p.I126I NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) ATGCAGCGATCTGCAGTCCTC 0.478000 HNSCC(53;0.14) 6 251 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21228694 21228694 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:21228694C>G ENST00000233242.1 - 26 11173 c.11046G>C c.(11044-11046)aaG>aaC p.K3682N NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 3682 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCCATAAGCTCTTGTCATAGA 0.438000 8 50 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175299342 175299342 + Nonsense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:175299342G>A ENST00000367674.2 - 21 4369 c.3661C>T c.(3661-3663)Cag>Tag p.Q1221* RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Nonsense_Mutation_p.Q1221* Q92752 TENR_HUMAN tenascin R Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.Q1221*(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TAGCGGCCCTGGGATGTGATC 0.567000 12 43 0 0 1 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768886 31768886 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr21:31768886G>A ENST00000355459.2 + 1 495 c.482G>A c.(481-483)tGc>tAc p.C161Y NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 161 intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAGTCTTCTTGCTACAGACCA 0.478000 6 34 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76525721 76525721 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:76525721G>A ENST00000389840.5 - 22 3464 c.3340C>T c.(3340-3342)Ctc>Ttc p.L1114F DNAH17_ENST00000585328.1_Missense_Mutation_p.L1111F dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCCTCCTTGAGGGGCTTGGTC 0.577000 18 80 0 0 1 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10912040 10912040 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:10912040C>T ENST00000381661.3 + 7 655 c.546C>T c.(544-546)gtC>gtT p.V182V ATP6V1C2_ENST00000272238.4_Silent_p.V182V NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 182 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) AATATCTCGTCACACTTCTGG 0.552000 59 87 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072544 17072544 + Silent SNP G G A rs141440063 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr22:17072544G>A ENST00000359963.3 - 1 1156 c.897C>T c.(895-897)gtC>gtT p.V299V NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 299 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TCTCCTCGTCGACCTCCCCCA 0.488000 52 114 0 0 1 0 0 GYG2 8908 broad.mit.edu 37 X 2779646 2779646 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chrX:2779646G>A ENST00000381163.3 + 9 1296 c.1014G>A c.(1012-1014)gcG>gcA p.A338A GYG2_ENST00000398806.3_Silent_p.A307A|GYG2_ENST00000542787.1_Silent_p.A338A|GYG2_ENST00000338623.5_Silent_p.A338A|GYG2_ENST00000381161.1_3'UTR NM_001079855.1|NM_001184702.1|NM_003918.2 NP_001073324.1|NP_001171631.1|NP_003909.2 O15488 GLYG2_HUMAN glycogenin 2 338 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CACCCAGTGCGGGCGTGCCGT 0.577000 13 3 0 0 1 0 0 SYNE3 161176 broad.mit.edu 37 14 95905975 95905975 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr14:95905975C>T ENST00000334258.5 - 12 2234 c.2220G>A c.(2218-2220)ttG>ttA p.L740L SYNE3_ENST00000557275.1_Silent_p.L740L|SYNE3_ENST00000554873.1_Silent_p.L497L NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCAGCAGCCTCAAGGCCCGCC 0.627000 38 12 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166535763 166535763 + Missense_Mutation SNP G G A rs142235040 by1000genomes TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:166535763G>A ENST00000314499.7 + 7 1634 c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K CSRNP3_ENST00000342316.4_Missense_Mutation_p.E420K|CSRNP3_ENST00000409420.1_Missense_Mutation_p.E452K NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 420 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 CGCCGTTCACGAAAGCCATGC 0.448000 21 66 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8106047 8106047 + Silent SNP C C T rs575091 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:8106047C>T ENST00000379328.3 + 4 1438 c.870C>T c.(868-870)ctC>ctT p.L290L GATA3_ENST00000461472.1_Intron|GATA3_ENST00000346208.3_Silent_p.L289L NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 289 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 CCTGCGGGCTCTATCACAAAA 0.572000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 19 63 0 0 1 0 0 ADGRG1 9289 broad.mit.edu 37 16 57685530 57685530 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:57685530C>T ENST00000562631.1 + 3 1015 c.483C>T c.(481-483)ttC>ttT p.F161F GPR56_ENST00000379696.3_Silent_p.F161F|GPR56_ENST00000540164.2_Silent_p.F161F|GPR56_ENST00000388812.4_Silent_p.F161F|GPR56_ENST00000568908.1_Silent_p.F161F|GPR56_ENST00000538815.1_Silent_p.F161F|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000567835.1_Silent_p.F161F|GPR56_ENST00000562558.1_Silent_p.F161F|GPR56_ENST00000568909.1_Silent_p.F161F|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000456916.1_Silent_p.F161F|GPR56_ENST00000388813.5_Silent_p.F161F Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 161 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 CCTTCTCCTTCCACAGTAAGG 0.582000 20 25 0 0 1 0 0 RNF111 54778 broad.mit.edu 37 15 59348035 59348035 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr15:59348035G>A ENST00000348370.4 + 4 1595 c.1162G>A c.(1162-1164)Gat>Aat p.D388N RNF111_ENST00000557998.1_Missense_Mutation_p.D388N|RNF111_ENST00000561186.1_Missense_Mutation_p.D388N|RNF111_ENST00000434298.1_Missense_Mutation_p.D388N|RNF111_ENST00000559209.1_Missense_Mutation_p.D388N NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 388 Interaction with AXIN1.|Ser-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) CCTTACCGTTGATGAAGATGG 0.423000 8 27 0 0 1 0 0 C1orf51 148523 broad.mit.edu 37 1 150256286 150256286 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:150256286G>C ENST00000290363.5 + 2 887 c.438G>C c.(436-438)gaG>gaC p.E146D C1orf51_ENST00000369094.1_Missense_Mutation_p.E58D|C1orf51_ENST00000469255.1_Intron|C1orf51_ENST00000369095.1_Missense_Mutation_p.E146D NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 146 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GTCGTTTTGAGAGAGGTAATC 0.413000 28 81 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1827401 1827401 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:1827401C>T ENST00000302787.2 - 7 1386 c.1090G>A c.(1090-1092)Gag>Aag p.E364K NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 364 LETM1. cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) ACCCCTTCCTCAGCAATCAGC 0.567000 6 35 0 0 1 0 0 AZIN1 51582 broad.mit.edu 37 8 103845432 103845432 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr8:103845432G>C ENST00000337198.5 - 9 1919 c.756C>G c.(754-756)atC>atG p.I252M AZIN1_ENST00000347770.4_Missense_Mutation_p.I252M NM_148174.2 NP_680479.1 O14977 AZIN1_HUMAN antizyme inhibitor 1 252 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol catalytic activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1) 9 Lung NSC(17;0.000143)|all_lung(17;0.000294) OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414) ACAGAGGGCTGATAACATGAT 0.343000 11 263 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60038310 60038310 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:60038310G>C ENST00000397786.2 - 23 5474 c.5398C>G c.(5398-5400)Caa>Gaa p.Q1800E NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1800 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 ATCCACCTTTGATCATGTGAT 0.368000 14 49 0 0 1 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65714412 65714412 + RNA SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:65714412C>T ENST00000608857.1 + 0 209 TSGA10IP_ENST00000532620.1_RNA NM_152762.2 NP_689975.2 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 TCTCAGAGCTCAAGGCAGACA 0.592000 35 31 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11725904 11725904 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:11725904C>T ENST00000381486.2 + 9 1332 c.1032C>T c.(1030-1032)tcC>tcT p.S344S GREB1_ENST00000263834.5_Silent_p.S344S|GREB1_ENST00000381483.2_Silent_p.S344S|GREB1_ENST00000234142.5_Silent_p.S344S NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 344 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CAGGCATGTCCTGCGTGCCGC 0.517000 27 36 0 0 1 0 0 C16orf87 388272 broad.mit.edu 37 16 46836885 46836885 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:46836885G>A ENST00000394806.2 - 3 273 c.261C>T c.(259-261)atC>atT p.I87I C16orf87_ENST00000285697.4_Silent_p.I148I Q6PH81 CP087_HUMAN chromosome 16 open reading frame 87 148 large_intestine(4)|urinary_tract(1) 5 GTCTTTGATTGATAATTTTTC 0.368000 11 18 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113684115 113684115 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:113684115G>A ENST00000295878.3 - 17 2844 c.2698C>T c.(2698-2700)Cgt>Tgt p.R900C NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 900 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 ACCTTCCTACGAAGTTGCTGT 0.418000 5 101 0 0 1 0 0 HBZ 3050 broad.mit.edu 37 16 202996 202996 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:202996C>T ENST00000252951.2 + 1 311 c.88C>T c.(88-90)Ctg>Ttg p.L30L NM_005332.2 NP_005323.1 P02008 HBAZ_HUMAN hemoglobin, zeta 30 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) CACCGAGACTCTGGAGAGGTG 0.637000 4 33 0 0 1 0 0 EPDR1 54749 broad.mit.edu 37 7 37960801 37960801 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:37960801C>T ENST00000199448.4 + 1 639 c.260C>T c.(259-261)cCc>cTc p.P87L EPDR1_ENST00000423717.1_Missense_Mutation_p.P87L|EPDR1_ENST00000559325.1_Missense_Mutation_p.P207L|EPDR1_ENST00000476620.1_Intron NM_017549.4 NP_060019.2 Q9UM22 EPDR1_HUMAN ependymin related 1 87 cell-matrix adhesion extracellular region calcium ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 GCGCTGATCCCCTGCAAGAGG 0.682000 14 11 0 0 1 0 0 CMTM4 146223 broad.mit.edu 37 16 66670431 66670431 + Silent SNP C C T rs146201516 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:66670431C>T ENST00000330687.4 - 2 421 c.240G>A c.(238-240)ccG>ccA p.P80P CMTM4_ENST00000563952.1_Silent_p.P51P|CMTM4_ENST00000394106.2_Silent_p.P80P NM_178818.2|NM_181521.2 NP_848933.1|NP_852662.1 Q8IZR5 CKLF4_HUMAN CKLF-like MARVEL transmembrane domain containing 4 80 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214) GGCCTTCACACGGGGAGCATG 0.443000 35 59 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65275064 65275064 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:65275064G>C ENST00000381210.3 - 1 116 c.6C>G c.(4-6)ttC>ttG p.F2L TECRL_ENST00000507440.1_Missense_Mutation_p.F2L NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 2 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TGTGCCTTTTGAACATTGTGT 0.403000 14 38 0 0 1 0 0 HAND1 9421 broad.mit.edu 37 5 153857102 153857102 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:153857102G>A ENST00000231121.2 - 1 722 c.467C>T c.(466-468)tCt>tTt p.S156F NM_004821.2 NP_004812.1 O96004 HAND1_HUMAN heart and neural crest derivatives expressed 1 156 angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis cytoplasm|nucleolus|nucleoplasm bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GGGATCGCCAGACTGTGCATC 0.607000 62 48 0 0 1 0 0 GDPD1 284161 broad.mit.edu 37 17 57326144 57326144 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:57326144G>C ENST00000284116.4 + 4 502 c.365G>C c.(364-366)aGa>aCa p.R122T GDPD1_ENST00000581276.1_Missense_Mutation_p.R122T|GDPD1_ENST00000581140.1_Missense_Mutation_p.R122T NM_182569.3 NP_872375.2 Q8N9F7 GDPD1_HUMAN glycerophosphodiester phosphodiesterase domain containing 1 122 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) TCATTTCAAAGAGGTAATATT 0.303000 13 81 0 0 1 0 0 RNF122 79845 broad.mit.edu 37 8 33408568 33408568 + Silent SNP T T C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr8:33408568T>C ENST00000256257.1 - 4 665 c.264A>G c.(262-264)ttA>ttG p.L88L NM_024787.2 NP_079063.2 Q9H9V4 RN122_HUMAN ring finger protein 122 88 endoplasmic reticulum|Golgi apparatus|integral to membrane zinc ion binding endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) TTACCCCATATAATTGTAACT 0.507000 75 347 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071577 240071577 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:240071577G>A ENST00000255380.4 + 5 1605 c.826G>A c.(826-828)Gag>Aag p.E276K NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 276 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GACAGAGGCAGAGACAGAAAA 0.488000 14 44 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95500998 95500998 + Nonsense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr8:95500998G>C ENST00000297591.5 - 24 5450 c.5375C>G c.(5374-5376)tCa>tGa p.S1792* KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1792 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CTTTCCTCTTGAGCCTCCACT 0.493000 144 32 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104082605 104082605 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:104082605C>T ENST00000265148.3 - 19 1941 c.1852G>A c.(1852-1854)Gaa>Aaa p.E618K CENPE_ENST00000380026.3_Missense_Mutation_p.E593K NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 618 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTTGGGTCTTCAATGCTTTCC 0.373000 23 30 0 0 1 0 0 RIC8A 60626 broad.mit.edu 37 11 208894 208894 + Nonsense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:208894G>T ENST00000526104.1 + 1 1384 c.40G>T c.(40-42)Gag>Tag p.E14* RIC8A_ENST00000325207.5_Nonsense_Mutation_p.E14* Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A 14 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GGAGACGGGTGAGGAGGATGT 0.716000 6 0 1.6384e-10 1.73173e-10 1 1 0 GTF2H3 2967 broad.mit.edu 37 12 124130058 124130058 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:124130058C>A ENST00000543341.2 + 3 181 c.150C>A c.(148-150)ttC>ttA p.F50L GTF2H3_ENST00000228955.7_Missense_Mutation_p.F9L NM_001271867.1|NM_001516.3 NP_001258796.1|NP_001507.2 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 34kDa 50 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) CGCATTTATTCATGAATCGTT 0.358000 Nucleotide excision repair (NER) 8 28 4.68919e-08 4.87403e-08 1 1 0 PNLDC1 154197 broad.mit.edu 37 6 160240103 160240103 + Silent SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:160240103C>G ENST00000610273.1 + 17 1521 c.1350C>G c.(1348-1350)gtC>gtG p.V450V PNLDC1_ENST00000392167.3_Silent_p.V461V NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) AGTTTGATGTCAGGCGACTCA 0.527000 36 34 0 0 1 0 0 LRRC1 55227 broad.mit.edu 37 6 53785428 53785428 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr6:53785428C>G ENST00000370888.1 + 13 1562 c.1285C>G c.(1285-1287)Ctg>Gtg p.L429V RP3-523E19.2_ENST00000474641.2_RNA NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 429 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) TGCAGAGAATCTGCCTCGCTG 0.473000 5 31 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44869807 44869807 + Silent SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr20:44869807C>G ENST00000372262.3 - 2 745 c.345G>C c.(343-345)ctG>ctC p.L115L CDH22_ENST00000537909.1_Silent_p.L115L NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 115 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TGTCGCCTGTCAGCTCGTCGA 0.627000 9 35 0 0 1 0 0 RBBP8 5932 broad.mit.edu 37 18 20573073 20573073 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr18:20573073C>T ENST00000399722.2 + 11 1634 c.1283C>T c.(1282-1284)tCt>tTt p.S428F RBBP8_ENST00000360790.5_Missense_Mutation_p.S428F|RBBP8_ENST00000327155.5_Missense_Mutation_p.S428F|RBBP8_ENST00000399725.2_Missense_Mutation_p.S428F NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 428 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) GGTAAAGATTCTAACACTGAT 0.373000 Homologous recombination 21 18 0 0 1 0 0 RNF19A 25897 broad.mit.edu 37 8 101273804 101273804 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr8:101273804G>C ENST00000519449.1 - 9 1964 c.1648C>G c.(1648-1650)Ctg>Gtg p.L550V RNF19A_ENST00000341084.2_Missense_Mutation_p.L550V|RNF19A_ENST00000523255.1_5'UTR NM_001280539.1|NM_015435.3 NP_001267468.1|NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 550 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CTTCCTGACAGACTCCCCGTT 0.458000 37 231 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27763065 27763065 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:27763065C>G ENST00000261588.4 + 17 3391 c.3372C>G c.(3370-3372)atC>atG p.I1124M NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1124 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GAGACACGATCTTATTCACAA 0.468000 37 64 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10753966 10753966 + Nonsense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:10753966G>T ENST00000335757.5 + 22 2402 c.2026G>T c.(2026-2028)Gag>Tag p.E676* SLC44A2_ENST00000586078.1_3'UTR|SLC44A2_ENST00000407327.4_Nonsense_Mutation_p.E674* Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 676 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GGAGGACCTGGAGAGGAATGA 0.597000 3 18 3.59834e-05 3.66416e-05 1 1 0 SEMA6B 10501 broad.mit.edu 37 19 4556051 4556051 + Silent SNP C C A rs73527729 byFrequency TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr19:4556051C>A ENST00000586582.1 - 6 730 c.420G>T c.(418-420)acG>acT p.T140T SEMA6B_ENST00000301293.3_Silent_p.T140T|SEMA6B_ENST00000586965.1_Silent_p.T140T NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 140 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) ACACAAAGAGCGTGGACTCGT 0.627000 48 45 3.68337e-26 4.05576e-26 1 1 0 CDH9 1007 broad.mit.edu 37 5 26902796 26902796 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:26902796C>T ENST00000231021.4 - 7 1214 c.1042G>A c.(1042-1044)Gat>Aat p.D348N NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 348 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TTACTTGCATCCACTCTTAAA 0.348000 9 35 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890226 55890226 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:55890226C>T ENST00000313472.3 + 1 378 c.378C>T c.(376-378)atC>atT p.I126I NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) ATGCAGCGATCTGCAGTCCTC 0.478000 70 102 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128477565 128477565 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:128477565C>T ENST00000322313.4 - 16 2192 c.2034G>A c.(2032-2034)caG>caA p.Q678Q NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 678 Collagen-like. postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CAGGATGCCTCTGCATTCCTT 0.642000 9 35 0 0 1 0 0 RNF19A 25897 broad.mit.edu 37 8 101273810 101273810 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr8:101273810C>A ENST00000519449.1 - 9 1958 c.1642G>T c.(1642-1644)Ggg>Tgg p.G548W RNF19A_ENST00000341084.2_Missense_Mutation_p.G548W|RNF19A_ENST00000523255.1_5'UTR NM_001280539.1|NM_015435.3 NP_001267468.1|NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 548 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) GACAGACTCCCCGTTATACTG 0.463000 42 232 9.39024e-22 1.02719e-21 1 1 0 RBBP8NL 140893 broad.mit.edu 37 20 60994684 60994684 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr20:60994684G>A ENST00000252998.1 - 2 176 c.20C>T c.(19-21)tCg>tTg p.S7L NM_080833.2 NP_543023.2 RBBP8 N-terminal like CCTGTTCAGCGACTCCATGAA 0.647000 32 61 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155256083 155256083 + Missense_Mutation SNP A A T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:155256083A>T ENST00000357232.4 - 8 1152 c.1153T>A c.(1153-1155)Tta>Ata p.L385I DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.L884I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCATAAACTAAGAAAGTGTAC 0.438000 40 6 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60033093 60033093 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:60033093G>A ENST00000397786.2 - 25 5806 c.5730C>T c.(5728-5730)ctC>ctT p.L1910L NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1910 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AGCAAGCACTGAGAATGCTAG 0.418000 22 68 0 0 1 0 0 GATAD2B 57459 broad.mit.edu 37 1 153782755 153782755 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:153782755G>A ENST00000368655.4 - 11 1923 c.1680C>T c.(1678-1680)atC>atT p.I560I NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 560 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGTGTCCTCCGATGCCAGTAT 0.488000 19 61 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57432257 57432257 + Missense_Mutation SNP A A T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:57432257A>T ENST00000442789.2 - 18 1986 c.1699T>A c.(1699-1701)Ttc>Atc p.F567I MYO1A_ENST00000300119.3_Missense_Mutation_p.F567I|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Missense_Mutation_p.F405I NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 567 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 GAACTCTTGAACTGGGCCCCA 0.557000 35 26 0 0 1 0 0 ARMC8 25852 broad.mit.edu 37 3 137983015 137983015 + Silent SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:137983015C>G ENST00000469044.1 + 14 1531 c.1260C>G c.(1258-1260)acC>acG p.T420T NME9_ENST00000341790.5_Intron|NME9_ENST00000383180.2_Intron|NME9_ENST00000484930.1_Intron|NME9_ENST00000536478.1_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000461822.1_Silent_p.T353T|ARMC8_ENST00000485396.1_Silent_p.T347T|ARMC8_ENST00000491704.1_Silent_p.T378T|ARMC8_ENST00000481646.1_Silent_p.T406T|ARMC8_ENST00000393058.3_Silent_p.T410T|ARMC8_ENST00000538260.1_Silent_p.T389T NM_001267041.1|NM_001267042.1 NP_001253970.1|NP_001253971.1 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 420 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 AGCTTCGAACCAGTTTCCAGG 0.393000 27 25 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37203508 37203508 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr20:37203508G>A ENST00000262879.6 + 30 4667 c.4383G>A c.(4381-4383)caG>caA p.Q1461Q RALGAPB_ENST00000397042.3_Silent_p.Q1458Q|RALGAPB_ENST00000397040.1_Silent_p.Q1461Q|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397038.1_Silent_p.Q1240Q Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1461 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GCCGGAAACAGAAAATCACCG 0.453000 44 30 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56385246 56385246 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:56385246C>T ENST00000355701.3 - 23 5658 c.4788G>A c.(4786-4788)caG>caA p.Q1596Q BZRAP1_ENST00000343736.4_Silent_p.Q1596Q|BZRAP1_ENST00000268893.6_Silent_p.Q1536Q NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1596 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CACCTCTCTTCTGGGGGCCCC 0.627000 8 39 0 0 1 0 0 ZNF273 10793 broad.mit.edu 37 7 64389235 64389235 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:64389235G>A ENST00000476120.1 + 4 1600 c.1529G>A c.(1528-1530)gGa>gAa p.G510E ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.G445E NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 510 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) ATTCATACTGGAGAGAAGCCC 0.378000 58 10 0 0 1 0 0 MOGS 7841 broad.mit.edu 37 2 74688445 74688445 + Missense_Mutation SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:74688445C>T ENST00000233616.4 - 4 2633 c.2471G>A c.(2470-2472)gGc>gAc p.G824D MOGS_ENST00000452063.2_Missense_Mutation_p.G718D|MOGS_ENST00000409065.1_3'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 824 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GCTGGTCCAGCCGTGGAAAGG 0.592000 10 39 0 0 1 0 0 RABEP2 79874 broad.mit.edu 37 16 28922244 28922244 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:28922244C>G ENST00000358201.4 - 7 1642 c.1054G>C c.(1054-1056)Gtg>Ctg p.V352L RABEP2_ENST00000357573.6_Missense_Mutation_p.V320L|RABEP2_ENST00000544477.1_Missense_Mutation_p.V281L NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 352 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 GCCTGGCTCACGGTCCCTTGC 0.657000 15 65 0 0 1 0 0 DNAJC3 5611 broad.mit.edu 37 13 96361567 96361567 + Missense_Mutation SNP T T G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr13:96361567T>G ENST00000602402.1 + 2 286 c.169T>G c.(169-171)Tta>Gta p.L57V DNAJC3_ENST00000376795.6_Missense_Mutation_p.L57V NM_006260.4 NP_006251.1 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 57 protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) AGCTGATGCTTTATCTCAGTT 0.358000 15 19 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145622095 145622095 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr8:145622095G>A ENST00000349769.3 - 24 2736 c.2642C>T c.(2641-2643)tCt>tTt p.S881F NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 881 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GCCGAGCTGAGAGTCGTGGGG 0.602000 11 39 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33955875 33955875 + Silent SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr15:33955875G>A ENST00000389232.4 + 36 5626 c.5556G>A c.(5554-5556)ctG>ctA p.L1852L RYR3_ENST00000415757.3_Silent_p.L1852L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1852 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.L1852L(2) 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) TGCAGGCCCTGAACATGTCTG 0.567000 8 2 0 0 1 0 0 EXOC1 55763 broad.mit.edu 37 4 56758876 56758876 + Splice_Site SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:56758876G>A ENST00000381295.2 + 14 2071 c.1723G>A c.(1723-1725)Gag>Aag p.E575K EXOC1_ENST00000349598.6_Splice_Site_p.E560K|EXOC1_ENST00000346134.7_Splice_Site_p.E575K NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 575 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) TGTTTCATCTGAGTATGTCTT 0.398000 18 85 0 0 1 0 0 PCCA 5095 broad.mit.edu 37 13 100953732 100953732 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr13:100953732G>C ENST00000376285.1 + 13 1122 c.1084G>C c.(1084-1086)Gaa>Caa p.E362Q PCCA_ENST00000376286.4_Missense_Mutation_p.E336Q|PCCA_ENST00000376279.3_Missense_Mutation_p.E362Q NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 362 ATP-grasp.|Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TCCTGTCACAGAATGCATTAC 0.458000 21 63 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241974125 241974125 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr2:241974125C>T ENST00000310397.8 + 4 783 c.783C>T c.(781-783)cgC>cgT p.R261R AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Silent_p.R261R|SNED1_ENST00000342631.6_Silent_p.R261R|SNED1_ENST00000405547.3_Silent_p.R261R NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 261 cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) CCCAGGTGCGCGTGGGGGGCT 0.657000 8 5 0 0 1 0 0 REXO2 25996 broad.mit.edu 37 11 114315274 114315274 + Silent SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr11:114315274C>G ENST00000265881.5 + 4 464 c.321C>G c.(319-321)acC>acG p.T107T REXO2_ENST00000538791.1_Silent_p.T17T|REXO2_ENST00000539275.1_Intron|REXO2_ENST00000539754.1_Intron NM_015523.3 NP_056338.2 Q9Y3B8 ORN_HUMAN RNA exonuclease 2 107 Exonuclease. nucleotide metabolic process mitochondrion|nucleus 3'-5' exonuclease activity|nucleic acid binding cervix(1)|endometrium(1)|kidney(1)|lung(1) 4 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494) CTGGCCTTACCAAGGCAGTGA 0.453000 10 41 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39800589 39800589 + Missense_Mutation SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:39800589G>C ENST00000564288.1 + 37 9106 c.8329G>C c.(8329-8331)Gaa>Caa p.E2777Q MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.E2782Q|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E2814Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E1217Q|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2782 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGAAAAGCAAGAAGGGATTGA 0.368000 25 226 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65103605 65103605 + Missense_Mutation SNP T T C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr17:65103605T>C ENST00000358691.5 - 31 5087 c.4921A>G c.(4921-4923)Att>Gtt p.I1641V HELZ_ENST00000580168.1_Missense_Mutation_p.I1642V NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GCTACTTCAATGTCTCTGCTG 0.502000 113 43 0 0 1 0 0 CBLN1 869 broad.mit.edu 37 16 49313318 49313318 + Silent SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:49313318G>C ENST00000219197.6 - 3 944 c.579C>G c.(577-579)ctC>ctG p.L193L CBLN1_ENST00000536749.1_Silent_p.L193L NM_004352.3 NP_004343.1 P23435 CBLN1_HUMAN cerebellin 1 precursor 193 C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity). nervous system development|synaptic transmission cell junction|extracellular region|synapse breast(1)|kidney(3)|large_intestine(2)|lung(3) 9 all_cancers(37;0.0766)|all_lung(18;0.24) GAGCCAGTCAGAGAGGAAACA 0.567000 17 47 0 0 1 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768277 140768277 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr5:140768277G>A ENST00000519479.1 + 1 826 c.826G>A c.(826-828)Gag>Aag p.E276K PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCAATGCCGAGATTACTTT 0.468000 46 41 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28992885 28992885 + Missense_Mutation SNP C C G TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr18:28992885C>G ENST00000359747.4 + 15 2536 c.2507C>G c.(2506-2508)tCt>tGt p.S836C RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S817C|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 817 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCCGTAGGCTCTATTGGTTGT 0.438000 20 51 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1720696 1720696 + Missense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:1720696G>T ENST00000397412.3 + 20 3630 c.3531G>T c.(3529-3531)aaG>aaT p.K1177N CRAMP1L_ENST00000262317.4_Missense_Mutation_p.K552N|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K1177N|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K1174N Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 1177 Ser-rich. nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 AGAGCCGGAAGATGTTGCCGA 0.577000 86 82 1.11079e-38 1.23121e-38 1 1 0 NOA1 84273 broad.mit.edu 37 4 57842852 57842852 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr4:57842852C>T ENST00000264230.4 - 1 2137 c.900G>A c.(898-900)ccG>ccA p.P300P NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 300 GTP binding TCGGCGGATTCGGATTCTCCC 0.667000 15 46 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62208206 62208206 + Missense_Mutation SNP G G A rs139139141 by1000genomes TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr15:62208206G>A ENST00000261517.5 - 61 8144 c.8071C>T c.(8071-8073)Cat>Tat p.H2691Y VPS13C_ENST00000395898.3_Missense_Mutation_p.H2648Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.H2648Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.H2691Y NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2691 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GCCAGCTCATGAGTTTCTGCT 0.353000 13 22 0 0 1 0 0 EXOSC10 5394 broad.mit.edu 37 1 11140941 11140958 + In_Frame_Del DEL TCATCCGTGAAGATAGGT TCATCCGTGAAGATAGGT - TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr1:11140941_11140958delTCATCCGTGAAGATAGGT ENST00000544779.1 - 12 1454_1471 c.1449_1466delACCTATCTTCACGGATGA c.(1447-1467)aaacctatcttcacggatgag>aag p.PIFTDE484del EXOSC10_ENST00000376936.4_In_Frame_Del_p.PIFTDE484del|EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000304457.7_In_Frame_Del_p.PIFTDE484del Q01780 EXOSX_HUMAN exosome component 10 484 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) AAGGTAGGACTCATCCGTGAAGATAGGTTTGATGAATT 0.422 8 156 --- --- --- --- ERICH6-AS1 101928085 broad.mit.edu 37 3 150421899 150421900 + RNA INS - - C rs34009900 by1000genomes TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr3:150421899_150421900insC ENST00000475393.1 + 0 20 RP11-103G8.2_ENST00000471093.1_RNA TTCTGTCCCTGCTCTTCAGCGT 0.545 5 3 --- --- --- --- AC005077.5 0 broad.mit.edu 37 7 75804673 75804673 + RNA DEL A A - TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:75804673delA ENST00000437494.1 + 0 57 atctcgaaccaaaaaaaaaag 0.542 3 5 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142481923 142481925 + RNA DEL CAA CAA - TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr7:142481923_142481925delCAA ENST00000603901.1 + 0 591 NR_001296.3 GTGATTAGACCAACCCTTCCCAT 0.537 2 4 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48695135 48695135 + Frame_Shift_Del DEL T T - rs139593183 by1000genomes TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr8:48695135delT ENST00000314191.2 - 80 11253 c.11197delA c.(11197-11199)aggfs p.R3733fs PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R3733fs NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3734 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CGCTTGGGCCTTCGCAGAGAC 0.582 Non-homologous end-joining 2 4 --- --- --- --- CEP164P1 100289237 broad.mit.edu 37 10 45566461 45566461 + RNA DEL C C - TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr10:45566461delC ENST00000456938.2 - 0 87 ATATTTGTCACCCCCCATGTC 0.502 5 2 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26714878 26714879 + Frame_Shift_Ins INS - - T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr12:26714878_26714879insT ENST00000381340.3 - 35 5053_5054 c.4637_4638insA c.(4636-4638)aatfs p.N1546fs NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1546 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CAATTCCACGATTTTTTGCTGA 0.322 10 21 --- --- --- --- MLST8 64223 broad.mit.edu 37 16 2258555 2258562 + Frame_Shift_Del DEL CCTCCCGC CCTCCCGC - TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:2258555_2258562delCCTCCCGC ENST00000569417.1 + 8 1157_1164 c.803_810delCCTCCCGC c.(802-810)tcctcccgcfs p.SSR268fs MLST8_ENST00000382450.4_Frame_Shift_Del_p.SSR267fs|MLST8_ENST00000397124.1_Frame_Shift_Del_p.SSR268fs|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000565250.1_Frame_Shift_Del_p.SSR268fs|MLST8_ENST00000301724.10_Frame_Shift_Del_p.SSR268fs|MLST8_ENST00000564088.1_Frame_Shift_Del_p.SSR268fs NM_022372.4 NP_071767.3 Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 268 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 CCCGGGGAGTCCTCCCGCGGCTGGATGT 0.678 18 123 --- --- --- --- ALDOA 226 broad.mit.edu 37 16 30080142 30080150 + In_Frame_Del DEL TGGATGGGC TGGATGGGC - rs121909533 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:30080142_30080150delTGGATGGGC ENST00000566897.1 + 8 1535_1543 c.383_391delTGGATGGGC c.(382-393)ttggatgggctg>ttg p.128_131LDGL>L ALDOA_ENST00000569545.1_In_Frame_Del_p.128_131LDGL>L|ALDOA_ENST00000563060.2_In_Frame_Del_p.128_131LDGL>L|ALDOA_ENST00000395240.3_In_Frame_Del_p.128_131LDGL>L|ALDOA_ENST00000564546.1_In_Frame_Del_p.128_131LDGL>L|ALDOA_ENST00000412304.2_In_Frame_Del_p.128_131LDGL>L|ALDOA_ENST00000564595.2_In_Frame_Del_p.182_185LDGL>L|ALDOA_ENST00000338110.5_In_Frame_Del_p.128_131LDGL>L|ALDOA_ENST00000569798.1_In_Frame_Del_p.128_131LDGL>L|ALDOA_ENST00000395248.1_In_Frame_Del_p.182_185LDGL>L P04075 ALDOA_HUMAN aldolase A, fructose-bisphosphate 128 actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding p.D129H(1) breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 17 CTCTTAGGGTTGGATGGGCTGTCTGAGCG 0.598 OREG0023729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 102 --- --- --- --- PDXDC2P 283970 broad.mit.edu 37 16 70066043 70066043 + RNA DEL A A - TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr16:70066043delA ENST00000531894.1 - 0 751 NR_003610.1 AGCCAAGCCGAAAAAAAAAAA 0.289 4 7 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 2 4 --- --- --- --- AP001604.3 0 broad.mit.edu 37 21 28793489 28793490 + RNA INS - - T rs144948060 TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chr21:28793489_28793490insT ENST00000420186.2 - 0 202 atttttttttcttttttttttt 0.347 3 5 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50213577 50213600 + RNA DEL GGCGGCGGCGGCCAAGGCGGCGGA GGCGGCGGCGGCCAAGGCGGCGGA - TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61fee403-3f4d-449d-9cac-40142b3f3c99 d6709e93-f67c-4e98-9dc3-bc4db2061a7c g.chrX:50213577_50213600delGGCGGCGGCGGCCAAGGCGGCGGA ENST00000376025.2 - 0 137_160 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) cggtggtggtggcggcggcggccaaggcggcggaggcTCTGGAG 0.719 7 9 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