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 CLDN23 137075 broad.mit.edu 37 8 8560232 8560232 + Silent SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr8:8560232G>A ENST00000519106.1 + 1 785 c.324G>A c.(322-324)gaG>gaA p.E108E NM_194284.2 NP_919260.2 Q96B33 CLD23_HUMAN claudin 23 108 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2) 2 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238) GGCAGGACGAGCCCAACTTCG 0.697000 12 118 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39526942 39526942 + Splice_Site SNP C C A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr2:39526942C>A ENST00000263881.3 - 16 1444 c.1119_splice c.e16-1 p.D374_splice MAP4K3_ENST00000341681.5_Splice_Site_p.D353_splice|MAP4K3_ENST00000437545.1_Splice_Site_p.D290_splice|MAP4K3_ENST00000536018.1_5'UTR NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 374 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) AGTTGCAGATCCTAATAGTAC 0.264000 17 191 3.52763e-06 3.82407e-06 1 1 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 8 467 0 0 1 0 0 MORF4L2 9643 broad.mit.edu 37 X 102931572 102931572 + Missense_Mutation SNP T T A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chrX:102931572T>A ENST00000423833.2 - 3 1609 c.384A>T c.(382-384)gaA>gaT p.E128D MORF4L2_ENST00000433176.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E128D|MORF4L2_ENST00000372620.1_Missense_Mutation_p.E10D|MORF4L2_ENST00000422154.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000441076.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000451301.1_Missense_Mutation_p.E128D Q15014 MO4L2_HUMAN mortality factor 4 like 2 128 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7) 13 ATGGTTTTAATTCTTCAGGAA 0.478000 93 641 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234749480 234749480 + Missense_Mutation SNP C C A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr2:234749480C>A ENST00000411486.2 - 8 2011 c.1946G>T c.(1945-1947)aGt>aTt p.S649I HJURP_ENST00000432087.1_Missense_Mutation_p.S595I|HJURP_ENST00000441687.1_Missense_Mutation_p.S564I NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 649 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) GCCCAGTAGACTTTTTCTGCA 0.488000 24 360 7.92952e-12 8.81818e-12 1 1 0 DEPDC7 91614 broad.mit.edu 37 11 33050274 33050274 + Missense_Mutation SNP T T C TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr11:33050274T>C ENST00000311388.3 + 4 1067 c.691T>C c.(691-693)Tcc>Ccc p.S231P DEPDC7_ENST00000241051.3_Missense_Mutation_p.S240P NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 240 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 TAAGAGGCAGTCCACCATGGT 0.413000 28 377 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227660886 227660886 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr2:227660886G>A ENST00000305123.4 - 1 3589 c.2569C>T c.(2569-2571)Cgg>Tgg p.R857W NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 857 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CTCGTGGGCCGGGCCAGGCGG 0.662000 33 274 0 0 1 0 0 AADACL3 126767 broad.mit.edu 37 1 12785321 12785321 + Silent SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr1:12785321C>T ENST00000332530.3 + 3 427 c.201C>T c.(199-201)ttC>ttT p.F67F AADACL3_ENST00000359318.5_Silent_p.F137F NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 137 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GTGACAGTTTCGGAGGGGCAA 0.572000 31 355 0 0 1 0 0 BEND3 57673 broad.mit.edu 37 6 107391539 107391539 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr6:107391539G>A ENST00000429433.2 - 5 1505 c.856C>T c.(856-858)Cgg>Tgg p.R286W BEND3_ENST00000369042.1_Missense_Mutation_p.R286W NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 286 BEN 1. central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 CTGCAGCCCCGGGAGAAGTCC 0.637000 8 121 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910549 29910549 + Missense_Mutation SNP G G A rs45585732 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr6:29910549G>A ENST00000396634.1 + 4 430 c.89G>A c.(88-90)aGg>aAg p.R30K HLA-A_ENST00000376802.2_Missense_Mutation_p.R30K|HLA-A_ENST00000376806.5_Missense_Mutation_p.R30K|HLA-A_ENST00000376809.5_Missense_Mutation_p.R30K P30443 1A01_HUMAN major histocompatibility complex, class I, A 30 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CACTCCATGAGGTATTTCTTC 0.721000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 5 47 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817063 129817063 + RNA SNP C C T rs142072122 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr3:129817063C>T ENST00000507643.1 + 0 647 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CTCTGCTCTTCAGTATTTTGC 0.552000 4 154 0 0 1 0 0 PCDHGA5 0 broad.mit.edu 37 5 140744450 140744450 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr5:140744450G>A ENST00000518069.1 + 1 553 c.553G>A c.(553-555)Gga>Aga p.G185R PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGGTAAGCGGAACTGATGG 0.552000 22 236 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85449402 85449402 + Missense_Mutation SNP T T A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr12:85449402T>A ENST00000393217.2 + 8 892 c.831T>A c.(829-831)aaT>aaA p.N277K NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 277 Glu-rich. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) AAGAAAAAAATTCTTTGTTAA 0.279000 16 241 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 4 20 0.00909568 0.00938674 1 1 0 MYH9 4627 broad.mit.edu 37 22 36685180 36685180 + Missense_Mutation SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr22:36685180C>T ENST00000216181.5 - 32 4738 c.4508G>A c.(4507-4509)cGc>cAc p.R1503H NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1503 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CATCTCCGTGCGGAACTGCTT 0.637000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 11 191 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202900208 202900208 + Missense_Mutation SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr2:202900208C>T ENST00000286201.1 + 1 899 c.838C>T c.(838-840)Cgg>Tgg p.R280W NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 280 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 GGTGGACATGCGGCGCTTCAG 0.662000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 993 0 0 1 0 0 HCG17 0 broad.mit.edu 37 6 30227450 30227450 + RNA SNP C C G TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr6:30227450C>G ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA CTTGGGGGCCCTGGCCCTGAC 0.716000 4 119 0 0 1 0 0 FOXB2 442425 broad.mit.edu 37 9 79635329 79635329 + Silent SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr9:79635329C>T ENST00000376708.1 + 1 759 c.759C>T c.(757-759)gcC>gcT p.A253A NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 253 Poly-Ala. brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 GCTCGgccgccgccgctgccg 0.746000 4 78 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817138 129817138 + RNA SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr3:129817138G>A ENST00000507643.1 + 0 720 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups AGAACCTGCGGGAGTCGCAGC 0.522000 5 206 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946437 16946437 + RNA SNP C C T rs2262202 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr1:16946437C>T ENST00000412962.1 - 0 1082 AGCCTTCCGCCGGGCCAGCAG 0.672000 9 113 0 0 1 0 0 GUSBP1 0 broad.mit.edu 37 5 21497235 21497235 + RNA SNP C C T rs141635554 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr5:21497235C>T ENST00000607545.1 + 0 179 NR_027026.1 AGTTTGAGAACTGGTGTAAGA 0.488000 5 131 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48575159 48575159 + Missense_Mutation SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr18:48575159C>T ENST00000342988.3 + 3 891 c.353C>T c.(352-354)gCg>gTg p.A118V SMAD4_ENST00000452201.2_Missense_Mutation_p.A118V|SMAD4_ENST00000588745.1_Missense_Mutation_p.A118V|SMAD4_ENST00000398417.2_Missense_Mutation_p.A118V|RP11-729L2.2_ENST00000590722.2_3'UTR NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 118 MH1. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(4)|p.A118V(2)|p.A118E(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGTCAGTATGCGTTTGACTTA 0.398000 22 250 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134613527 134613527 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr7:134613527G>A ENST00000361388.2 + 4 560 c.94G>A c.(94-96)Gat>Aat p.D32N CALD1_ENST00000424922.1_Missense_Mutation_p.D26N|CALD1_ENST00000495522.1_Missense_Mutation_p.D26N|CALD1_ENST00000417172.1_Missense_Mutation_p.D32N|CALD1_ENST00000393118.2_Missense_Mutation_p.D26N|CALD1_ENST00000361675.2_Missense_Mutation_p.D32N|CALD1_ENST00000422748.1_Missense_Mutation_p.D32N|CALD1_ENST00000543443.1_Missense_Mutation_p.D37N|CALD1_ENST00000361901.2_Missense_Mutation_p.D32N NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 252 Myosin and calmodulin-binding (By similarity). cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 GAGGAATGACGATGATGAAGA 0.587000 12 124 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37693106 37693106 + Missense_Mutation SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr8:37693106C>T ENST00000412232.2 + 13 1881 c.1868C>T c.(1867-1869)cCg>cTg p.P623L GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 623 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CAGCTGCCCCCGAGTCTATTC 0.647000 55 762 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 4 22 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21121386 21121386 + Missense_Mutation SNP C C T rs146874573 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr18:21121386C>T ENST00000269228.5 - 15 2811 c.2257G>A c.(2257-2259)Gtg>Atg p.V753M NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.V435M NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 753 SSD. autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GCTGGCATCACGGACAATGCT 0.512000 14 231 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578478 7578478 + Missense_Mutation SNP G G C rs137852790 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr17:7578478G>C ENST00000420246.2 - 5 584 c.452C>G c.(451-453)cCc>cGc p.P151R TP53_ENST00000455263.2_Missense_Mutation_p.P151R|TP53_ENST00000445888.2_Missense_Mutation_p.P151R|TP53_ENST00000359597.4_Missense_Mutation_p.P151R|TP53_ENST00000269305.4_Missense_Mutation_p.P151R|TP53_ENST00000413465.2_Missense_Mutation_p.P151R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 151 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(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) GCCGGGCGGGGGTGTGGAATC 0.607000 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) 20 231 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128199973 128199973 + Silent SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr3:128199973C>T ENST00000341105.2 - 6 1663 c.1332G>A c.(1330-1332)ccG>ccA p.P444P GATA2_ENST00000487848.1_Silent_p.P444P|GATA2_ENST00000430265.2_Silent_p.P430P|GATA2_ENST00000489987.1_5'UTR NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 444 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding p.P444P(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) GGCTGAAGGGCGGGAGGTGGC 0.657000 Mis AML(CML blast transformation) 21 216 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55739380 55739380 + Missense_Mutation SNP T T A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr6:55739380T>A ENST00000370830.3 - 1 982 c.284A>T c.(283-285)gAa>gTa p.E95V BMP5_ENST00000446683.2_Missense_Mutation_p.E95V NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 95 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CTCCGACTCTTCAGGATTTTC 0.507000 27 473 0 0 1 0 0 ABCB6 10058 broad.mit.edu 37 2 220078577 220078577 + Missense_Mutation SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr2:220078577C>T ENST00000265316.3 - 9 1865 c.1549G>A c.(1549-1551)Gca>Aca p.A517T ABCB6_ENST00000439002.2_Missense_Mutation_p.A471T NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 517 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACAAAGTATGCGCAAAGCAGG 0.562000 8 1321 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 7 71 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 49 1 1 1 1 0 RELN 5649 broad.mit.edu 37 7 103194237 103194237 + Missense_Mutation SNP C C A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr7:103194237C>A ENST00000424685.2 - 39 5998 c.5839G>T c.(5839-5841)Gat>Tat p.D1947Y RELN_ENST00000428762.1_Missense_Mutation_p.D1947Y|RELN_ENST00000343529.5_Missense_Mutation_p.D1947Y P78509 RELN_HUMAN reelin 1947 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTATTTCCATCGATAATGAAG 0.358000 5 271 0.217242 0.218939 1 1 0 AMPD3 272 broad.mit.edu 37 11 10503680 10503680 + Missense_Mutation SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr11:10503680C>T ENST00000444303.2 + 3 492 c.20C>T c.(19-21)gCg>gTg p.A7V AMPD3_ENST00000396554.3_Missense_Mutation_p.A175V NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 166 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) GAGAAGTATGCGCGGCTCGCC 0.607000 6 751 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 236619 236619 + Missense_Mutation SNP T T C TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr5:236619T>C ENST00000264932.6 + 10 1452 c.1337T>C c.(1336-1338)gTa>gCa p.V446A SDHA_ENST00000510361.1_Missense_Mutation_p.V398A|SDHA_ENST00000504309.1_Missense_Mutation_p.V446A NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 446 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) TGTGCCTCGGTACATGGTGCC 0.602000 Familial Paragangliomas 6 341 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 5 364 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167802257 167802257 + Silent SNP C C A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr1:167802257C>A ENST00000367848.1 - 25 3782 c.3285G>T c.(3283-3285)gtG>gtT p.V1095V ADCY10_ENST00000545172.1_Silent_p.V1034V|ADCY10_ENST00000367851.4_Silent_p.V1187V|ADCY10_ENST00000485964.1_5'UTR Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1187 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CCTGCCGATTCACATAATGAA 0.488000 46 605 1.86633e-21 2.13059e-21 1 1 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 5 126 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 270 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169550783 169550783 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr3:169550783G>A ENST00000340806.6 + 4 1342 c.1342G>A c.(1342-1344)Gaa>Aaa p.E448K NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 448 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 AGCTTTGAAAGAATTACGGCT 0.403000 18 197 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285654 152285654 + Missense_Mutation SNP G G T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr1:152285654G>T ENST00000368799.1 - 3 1743 c.1708C>A c.(1708-1710)Caa>Aaa p.Q570K FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 570 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) TTTCGTGTTTGTCTGCTTGCA 0.537000 Ichthyosis 10 1568 7.48243e-07 8.17994e-07 1 1 0 NPEPL1 79716 broad.mit.edu 37 20 57268896 57268896 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr20:57268896G>A ENST00000356091.6 + 2 542 c.254G>A c.(253-255)cGg>cAg p.R85Q NPEPL1_ENST00000525967.1_Missense_Mutation_p.R57Q|NPEPL1_ENST00000525817.1_Missense_Mutation_p.R37Q|STX16-NPEPL1_ENST00000530122.1_3'UTR NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 85 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) AGGGTGAGCCGGCACAACAGC 0.682000 11 149 0 0 1 0 0 CECR1 51816 broad.mit.edu 37 22 17662742 17662742 + Silent SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr22:17662742C>T ENST00000399839.1 - 9 1680 c.1410G>A c.(1408-1410)agG>agA p.R470R CECR1_ENST00000262607.3_Silent_p.R470R|CECR1_ENST00000330232.4_Silent_p.R229R|CECR1_ENST00000399837.2_Silent_p.R470R|CECR1_ENST00000449907.2_Silent_p.R428R Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 470 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) GTTTGAGGGTCCTCAGGTCAG 0.547000 20 312 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24324330 24324330 + Silent SNP C C T rs143068519 byFrequency TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr8:24324330C>T ENST00000175238.6 + 6 491 c.408C>T c.(406-408)aaC>aaT p.N136N RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Silent_p.N136N|ADAM7_ENST00000441335.2_Silent_p.N136N|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 136 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TCAGAATAAACGACCAAAGAT 0.373000 24 398 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 8 463 0 0 1 0 0 MAGEB10 139422 broad.mit.edu 37 X 27839749 27839749 + Missense_Mutation SNP G G T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chrX:27839749G>T ENST00000356790.2 + 3 571 c.326G>T c.(325-327)gGc>gTc p.G109V NM_182506.3 NP_872312.2 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 109 NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 TTTCCCAGAGGCCCTGTAGAT 0.433000 13 59 5.50884e-06 5.922e-06 1 1 0 CEACAM7 1087 broad.mit.edu 37 19 42190934 42190934 + Missense_Mutation SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr19:42190934C>T ENST00000006724.3 - 2 484 c.283G>A c.(283-285)Gca>Aca p.A95T CEACAM7_ENST00000602225.1_Missense_Mutation_p.A95T|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.A95T|CEACAM7_ENST00000338196.4_Missense_Mutation_p.A95T NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 95 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) CCGTTGTGTGCGGGCCCTGGG 0.443000 7 836 0 0 1 0 0 NDUFV3 4731 broad.mit.edu 37 21 44317096 44317096 + Silent SNP G G T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr21:44317096G>T ENST00000354250.2 + 2 177 c.108G>T c.(106-108)gcG>gcT p.A36A NDUFV3_ENST00000340344.3_Silent_p.A36A|NDUFV3_ENST00000460259.1_3'UTR NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 36 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) CTTTGTCTGCGGAATCAGGGA 0.418000 26 359 2.44723e-14 2.74516e-14 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18846006 18846006 + RNA SNP A A G TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr22:18846006A>G ENST00000412938.1 + 0 3364 GCGCAGGCCGACACTCACTGA 0.617000 5 251 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100460359 100460359 + Missense_Mutation SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr4:100460359C>T ENST00000514652.1 + 7 1022 c.668C>T c.(667-669)gCc>gTc p.A223V C4orf17_ENST00000326581.4_Missense_Mutation_p.A223V Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 223 p.A223V(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) TCTGAGCTTGCCGAGATAAAC 0.433000 6 962 0 0 1 0 0 FAM84B 157638 broad.mit.edu 37 8 127569401 127569401 + Silent SNP C C A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr8:127569401C>A ENST00000304916.3 - 2 689 c.234G>T c.(232-234)ctG>ctT p.L78L RP11-103H7.5_ENST00000524320.1_RNA NM_174911.4 NP_777571.1 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 78 cytoplasm|plasma membrane protein binding lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) CCACCTCGTGCAGCCGCGGAT 0.716000 7 81 0.00198382 0.00206381 1 1 0 UGT2B17 7367 broad.mit.edu 37 4 69416515 69416515 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr4:69416515G>A ENST00000317746.2 - 5 1235 c.1193C>T c.(1192-1194)gCg>gTg p.A398V NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 398 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 ATGTTGATCCGCAAACAAGGG 0.463000 7 857 0 0 1 0 0 KHSRP 8570 broad.mit.edu 37 19 6417818 6417818 + Missense_Mutation SNP A A G TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr19:6417818A>G ENST00000398148.3 - 11 1105 c.1013T>C c.(1012-1014)aTt>aCt p.I338T NM_003685.2 NP_003676.2 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 338 Gly-rich.|KH 3. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 ACTCCGGCCAATGACCACGCC 0.642000 OREG0025200 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 141 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 6 257 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212502 62212502 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr8:62212502G>A ENST00000519846.1 + 3 588 c.116G>A c.(115-117)cGc>cAc p.R39H CLVS1_ENST00000325897.4_Missense_Mutation_p.R39H|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 39 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GAGAAAGCTCGCCTGGAACTG 0.433000 23 256 0 0 1 0 0 NT5E 4907 broad.mit.edu 37 6 86197162 86197162 + Silent SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr6:86197162C>T ENST00000257770.3 + 5 1108 c.1059C>T c.(1057-1059)tgC>tgT p.C353C NT5E_ENST00000369651.3_Silent_p.C353C NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 353 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) CTCAATCATGCCGCTTTAGAG 0.413000 6 562 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115047275 115047275 + Silent SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr11:115047275G>A ENST00000542447.2 - 9 1292 c.1164C>T c.(1162-1164)gaC>gaT p.D388D CADM1_ENST00000331581.6_Silent_p.D445D|CADM1_ENST00000537058.1_Silent_p.D427D|CADM1_ENST00000452722.2_Silent_p.D416D|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Silent_p.D417D NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 416 adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.D416D(2) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) CGTCTGCTGCGTCATCGGCTC 0.453000 46 547 0 0 1 0 0 PARL 55486 broad.mit.edu 37 3 183547482 183547482 + Silent SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr3:183547482G>A ENST00000317096.4 - 10 1104 c.1044C>T c.(1042-1044)taC>taT p.Y348Y PARL_ENST00000435888.1_Silent_p.Y264Y|PARL_ENST00000311101.5_Silent_p.Y298Y NM_018622.5 NP_061092.3 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like 348 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity p.Y348Y(1) endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GTTCATGACCGTAAGTAACAT 0.423000 6 699 0 0 1 0 0 ENTPD4 9583 broad.mit.edu 37 8 23297388 23297388 + Missense_Mutation SNP C C A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr8:23297388C>A ENST00000358689.4 - 9 1158 c.923G>T c.(922-924)gGa>gTa p.G308V ENTPD4_ENST00000356206.6_Missense_Mutation_p.G300V|ENTPD4_ENST00000417069.2_Missense_Mutation_p.G300V NM_001128930.2|NM_004901.4 NP_001122402.1|NP_004892.1 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 308 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) AACATCACATCCCAAGTTAAA 0.403000 45 381 6.21074e-16 7.02794e-16 1 1 0 MED15 51586 broad.mit.edu 37 22 20939239 20939239 + Missense_Mutation SNP T T C TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr22:20939239T>C ENST00000263205.7 + 15 1970 c.1901T>C c.(1900-1902)tTc>tCc p.F634S MED15_ENST00000541476.1_Missense_Mutation_p.F568S|MED15_ENST00000382974.2_Missense_Mutation_p.F523S|MED15_ENST00000292733.7_Missense_Mutation_p.F594S|MED15_ENST00000406969.1_Missense_Mutation_p.F568S|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000425759.2_Missense_Mutation_p.F483S NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 634 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) TCACCTGTCTTCAACCATTCC 0.647000 49 573 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141051740 141051740 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr5:141051740G>A ENST00000239440.4 - 10 1579 c.1514C>T c.(1513-1515)gCg>gTg p.A505V ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 505 Arf-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CCCACAGTCCGCACACTGCCG 0.612000 9 995 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810766 7810766 + Missense_Mutation SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr19:7810766C>T ENST00000315599.7 - 4 408 c.386G>A c.(385-387)cGg>cAg p.R129Q CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGCCTTCAGCCGGGTCAGCTC 0.567000 6 829 0 0 1 0 0 ALDH1A1 216 broad.mit.edu 37 9 75531895 75531895 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr9:75531895G>A ENST00000297785.3 - 9 1030 c.976C>T c.(976-978)Cgg>Tgg p.R326W ALDH1A1_ENST00000376939.1_3'UTR NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 326 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TTCTTAGCCCGCTCAACACTC 0.458000 5 483 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 6 240 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr4:186544317G>A ENST00000431808.1 - 14 2817 c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 752 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.P752S(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CTGTTGTCCGGCAAGCTCCCC 0.522000 8 1194 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22941404 22941404 + Missense_Mutation SNP C C T rs138536833 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr19:22941404C>T ENST00000397104.3 - 5 1033 c.1034G>A c.(1033-1035)cGt>cAt p.R345H ZNF99_ENST00000596209.1_Missense_Mutation_p.R436H zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GGCTGAGAAACGCTTAAAAGC 0.373000 5 276 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79084856 79084856 + Missense_Mutation SNP T T G rs146960317 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr5:79084856T>G ENST00000446378.2 + 10 11649 c.11618T>G c.(11617-11619)tTt>tGt p.F3873C CTC-431G16.2_ENST00000421252.2_RNA NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3873 Fibronectin type-III 2. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GATAACTACTTTTTCTATGTG 0.393000 55 600 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) 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 CATGTCCCTCGCCCTTTCGGT 0.463000 4 273 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 12 171 0 0 1 0 0 RAB7L1 8934 broad.mit.edu 37 1 205741648 205741648 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr1:205741648G>A ENST00000367139.3 - 3 475 c.172C>T c.(172-174)Cgg>Tgg p.R58W RAB7L1_ENST00000414729.1_Missense_Mutation_p.R58W|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R58W|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000446390.2_Intron NM_003929.2 NP_003920.1 O14966 RAB7L_HUMAN RAB7, member RAS oncogene family-like 1 58 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 10 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0194) AGCTGAAGCCGCACTATCTCG 0.373000 7 887 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19488970 19488970 + Missense_Mutation SNP A A G TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr1:19488970A>G ENST00000375267.2 - 35 4903 c.4900T>C c.(4900-4902)Tca>Cca p.S1634P UBR4_ENST00000375254.3_Missense_Mutation_p.S1634P|UBR4_ENST00000375226.2_Missense_Mutation_p.S1634P|UBR4_ENST00000375217.2_Missense_Mutation_p.S1634P Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1634 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ACCCAGTCTGAGTCTACTTCA 0.507000 56 573 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807460 20807460 + Missense_Mutation SNP T T C TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr19:20807460T>C ENST00000601440.1 - 4 1369 c.1223A>G c.(1222-1224)tAc>tGc p.Y408C CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y408C(1) breast(1)|endometrium(1)|lung(3)|skin(1) 6 GTTAGAGGAGTACTTAAAAGC 0.408000 6 529 0 0 1 0 0 FBXL6 26233 broad.mit.edu 37 8 145580129 145580129 + Silent SNP T T A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr8:145580129T>A ENST00000331890.5 - 7 1120 c.1056A>T c.(1054-1056)ggA>ggT p.G352G FBXL6_ENST00000455319.2_Silent_p.G346G|FBXL6_ENST00000526524.1_5'UTR NM_012162.2 NP_036294.1 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 352 proteolysis ubiquitin-protein ligase activity endometrium(1)|lung(3)|ovary(1) 5 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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) GGAAGCCTGGTCCGGGAGCCA 0.652000 13 277 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78500376 78500376 + Missense_Mutation SNP T T A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr15:78500376T>A ENST00000258873.4 - 2 405 c.200A>T c.(199-201)gAg>gTg p.E67V ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 67 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 ATTCACCTTCTCTGGCACTGA 0.597000 4 113 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57484420 57484420 + Missense_Mutation SNP C C T rs11554273 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr20:57484420C>T ENST00000371100.4 + 8 3082 c.2530C>T c.(2530-2532)Cgt>Tgt p.R844C GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 201 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.R201C(228)|p.R844C(9)|p.R201S(5) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCTTCGCTGCCGTGTCCTGAC 0.428000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 24 259 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 18 172 4.96729e-08 5.47676e-08 1 1 0 SACM1L 22908 broad.mit.edu 37 3 45751115 45751115 + Silent SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr3:45751115C>T ENST00000389061.5 + 5 663 c.459C>T c.(457-459)ttC>ttT p.F153F SACM1L_ENST00000541314.1_Silent_p.F92F|SACM1L_ENST00000418611.1_Silent_p.F50F|SACM1L_ENST00000464524.1_3'UTR NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 153 SAC. Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) GTCCTGAATTCCAAGAAATGA 0.343000 22 246 0 0 1 0 0 PNMA5 114824 broad.mit.edu 37 X 152159280 152159280 + Missense_Mutation SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chrX:152159280C>T ENST00000439251.1 - 2 1301 c.863G>A c.(862-864)cGt>cAt p.R288H PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H|PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 288 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ATGTTTCAGACGAATCATGTC 0.562000 25 180 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659764 24659764 + RNA SNP C C G rs143464834 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr22:24659764C>G ENST00000414583.2 + 0 3289 NR_003714.1 AGTGTCCTAACAGCCCTGCTT 0.627000 5 47 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371685 109371685 + Missense_Mutation SNP A A T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr2:109371685A>T ENST00000283195.6 + 17 2562 c.2436A>T c.(2434-2436)aaA>aaT p.K812N NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 812 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTTTACTGAAAATGATTTGCC 0.348000 7 1038 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144825409 144825409 + Missense_Mutation SNP G G A rs558823 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr1:144825409G>A ENST00000440491.2 + 11 1361 c.1361G>A c.(1360-1362)gGt>gAt p.G454D NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 GACTCACTGGGTAGATGGTAT 0.493000 8 771 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144825416 144825416 + Missense_Mutation SNP G G T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr1:144825416G>T ENST00000440491.2 + 11 1368 c.1368G>T c.(1366-1368)tgG>tgT p.W456C NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 TGGGTAGATGGTATTCGACTC 0.498000 8 809 0.000274275 0.000290012 1 1 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 13 144 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143603456 143603456 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr8:143603456G>A ENST00000517894.1 + 21 4049 c.3155G>A c.(3154-3156)cGc>cAc p.R1052H BAI1_ENST00000323289.5_Missense_Mutation_p.R1052H O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1052 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) ATCCGCAAGCGCTTCCTCTGC 0.657000 24 174 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9459508 9459508 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr11:9459508G>A ENST00000379719.3 + 21 2618 c.2476G>A c.(2476-2478)Gac>Aac p.D826N NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 826 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TAATGATGTTGACTGTTTCTT 0.313000 13 187 0 0 1 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291269 1291269 + Silent SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr16:1291269C>T ENST00000461509.2 + 2 392 c.198C>T c.(196-198)tgC>tgT p.C66C TPSAB1_ENST00000338844.3_Silent_p.C59C P20231 TRYB2_HUMAN tryptase alpha/beta 1 59 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) TGCACTTCTGCGGGGGCTCCC 0.692000 7 325 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3084848 3084848 + Splice_Site SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr3:3084848G>A ENST00000397461.1 + 21 3082 c.e21+1 CNTN4_ENST00000427331.1_Splice_Site|CNTN4_ENST00000448906.2_Splice_Site|CNTN4_ENST00000418658.1_Splice_Site|CNTN4_ENST00000358480.3_Splice_Site|CNTN4_ENST00000397459.2_Splice_Site|CNTN4-AS1_ENST00000442749.2_RNA NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 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) CGAAAGCCACGTAAGAACAGA 0.428000 11 164 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 8 294 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871082 170871082 + Silent SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr6:170871082G>A ENST00000392092.2 + 3 537 c.258G>A c.(256-258)caG>caA p.Q86Q TBP_ENST00000230354.6_Silent_p.Q86Q|TBP_ENST00000540980.1_Silent_p.Q66Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 86 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q86Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 6 144 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 4 206 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 6 151 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53769492 53769492 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr3:53769492G>A ENST00000288139.3 + 21 2891 c.2773G>A c.(2773-2775)Gca>Aca p.A925T CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T|CACNA1D_ENST00000350061.5_Missense_Mutation_p.A905T NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 905 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TGCCCTGGCCGCAGAGGACCC 0.627000 5 333 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138394450 138394450 + Missense_Mutation SNP G G A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr7:138394450G>A ENST00000310018.2 - 21 2630 c.2348C>T c.(2347-2349)gCc>gTc p.A783V ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A783V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A783V NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 783 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AGCAAATACGGCAAAAATAAT 0.532000 7 840 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr1:16255142_16255143delGA ENST00000375759.3 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)gfs p.E803fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 7 561 --- --- --- --- SRSF11 9295 broad.mit.edu 37 1 70687376 70687377 + Frame_Shift_Ins INS - - G TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr1:70687376_70687377insG ENST00000370950.3 + 2 139_140 c.57_58insG c.(55-60)ccgtggfs p.W20fs SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.W20fs Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 20 Poly-Gly. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding p.P19P(1) large_intestine(3)|ovary(2)|skin(1) 6 GCGGCGGGCCcggtggcggagg 0.649 8 643 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron NM_001112808.2 NP_001106279.1 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 TCTCTCTCACCTTCTTCTTCTTC 0.473 7 905 --- --- --- --- PTPRVP 0 broad.mit.edu 37 1 202146595 202146596 + RNA INS - - GGGCTGGC rs72206867 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr1:202146595_202146596insGGGCTGGC ENST00000482597.1 + 0 1829 NR_002930.2 TCTGAGGACTGGGGCTGGCGGC 0.624 4 2 --- --- --- --- ERCC3 2071 broad.mit.edu 37 2 128046944 128046946 + In_Frame_Del DEL TCT TCT - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr2:128046944_128046946delTCT ENST00000493187.2 - 6 1060_1062 c.597_599delAGA c.(595-600)gag>ga p.EE199del ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 263 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|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 holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGTCTGTGTCTCTTCTTCTTCTT 0.473 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 10 269 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - rs140194798 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr2:196788374delT ENST00000312428.6 - 23 3870 c.3770delA c.(3769-3771)atfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCGCTAATATTTTTTTTTAC 0.418 7 322 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.626 8 282 --- --- --- --- RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 8 111 --- --- --- --- PDE6B 5158 broad.mit.edu 37 4 661763 661765 + In_Frame_Del DEL AGG AGG - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr4:661763_661765delAGG ENST00000255622.6 + 21 2514_2516 c.2471_2473delAGG c.(2470-2475)aag>a p.KE824del PDE6B_ENST00000496514.1_In_Frame_Del_p.KE824del|PDE6B_ENST00000429163.2_In_Frame_Del_p.KE545del NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 824 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CTGGAGGAGAAGGAGGAGGAGGA 0.562 9 642 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 7 748 --- --- --- --- LIAS 11019 broad.mit.edu 37 4 39462464 39462464 + Frame_Shift_Del DEL A A - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr4:39462464delA ENST00000261434.3 + 2 218 c.100delA c.(100-102)aafs p.K36fs LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000515061.1_3'UTR NM_006859.2 NP_006850.2 O43766 LIAS_HUMAN lipoic acid synthetase 36 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding p.K36fs*31(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2) 12 Lipoic Acid(DB00166) CTTGCCAGATAAAAAAAAGGA 0.393 7 852 --- --- --- --- PHOX2B 8929 broad.mit.edu 37 4 41747993 41748013 + In_Frame_Del DEL GCCGCCGCTGCCGCTGCCGCC GCCGCCGCTGCCGCTGCCGCC - rs17884724 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr4:41747993_41748013delGCCGCCGCTGCCGCTGCCGCC ENST00000226382.2 - 3 1115_1135 c.756_776delGGCGGCAGCGGCAGCGGCGGC c.(754-777)gca>gc p.AAAAAAAA252del NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 252 Poly-Ala. positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 GCCTCCAgctgccgccgctgccgctgccgccgccgccgctg 0.819 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 8 27 --- --- --- --- HERC5 51191 broad.mit.edu 37 4 89381265 89381266 + Frame_Shift_Ins INS - - A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr4:89381265_89381266insA ENST00000264350.3 + 3 562_563 c.409_410insA c.(409-411)aaafs p.K137fs HERC5_ENST00000508695.1_3'UTR NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 137 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) CATTTTACAAGAAAAAAAAATA 0.272 9 237 --- --- --- --- KCTD16 57528 broad.mit.edu 37 5 143853531 143853531 + Frame_Shift_Del DEL A A - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr5:143853531delA ENST00000507359.2 + 3 2232 c.1141delA c.(1141-1143)aafs p.K383fs KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 383 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) CATGAGCAGCAAAAAAAAAGC 0.468 9 388 --- --- --- --- CASP8AP2 9994 broad.mit.edu 37 6 90556398 90556398 + RNA DEL T T - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr6:90556398delT ENST00000551025.1 + 0 1492 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TCTAAtttccttttttttttt 0.418 8 43 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129959602 129959603 + Frame_Shift_Ins INS - - T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr6:129959602_129959603insT ENST00000368149.2 - 3 576_577 c.488_489insA c.(487-489)aaafs p.K163fs NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 163 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) GGTACTGTTTGTTTTTTTTCCT 0.421 7 854 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149518533 149518533 + RNA DEL C C - rs11353848 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr7:149518533delC ENST00000378016.2 + 0 12602 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGGAGCAGTCCCAGAGCCAG 0.711 7 12 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|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 coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 10 834 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 7 257 --- --- --- --- MYC 4609 broad.mit.edu 37 8 128750605 128750607 + In_Frame_Del DEL CAG CAG - rs61752959 byFrequency TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr8:128750605_128750607delCAG ENST00000377970.2 + 2 652_654 c.142_144delCAG c.(142-144)del p.Q52del MYC_ENST00000524013.1_In_Frame_Del_p.Q51del|MYC_ENST00000259523.6_In_Frame_Del_p.Q37del NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 37 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q33H(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GAACTTCTACCAGCAGCAGCAGC 0.611 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 318 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 118004 118005 + In_Frame_Ins INS - - CCTCGTCTTCCA TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr9:118004_118005insCCTCGTCTTCCA ENST00000382500.2 - 1 412_413 c.115_116insTGGAAGACGAGG c.(115-117)gga>TGGAAGACGAGGgga p.38_39insWKTR NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 38 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CGCCGCCTCCTCCTCGTCTTCA 0.668 12 459 --- --- --- --- RP11-125B21.2 0 broad.mit.edu 37 9 2552346 2552347 + RNA INS - - AA rs71492001 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr9:2552346_2552347insAA ENST00000416826.2 - 0 185 RP11-125B21.2_ENST00000424605.1_RNA|RP11-125B21.2_ENST00000453601.1_RNA TCTCTAAATCCAAAAAAAATGT 0.386 5 5 --- --- --- --- TTF1 7270 broad.mit.edu 37 9 135266061 135266061 + Frame_Shift_Del DEL T T - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr9:135266061delT ENST00000334270.2 - 7 2184 c.2145delA c.(2143-2145)aafs p.K715fs NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 715 Myb-like 2. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) CCTTGTAGAGTTTTTCCCGAA 0.403 7 1010 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 7 295 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 9 1338 --- --- --- --- LINC00502 0 broad.mit.edu 37 10 92813180 92813180 + RNA DEL A A - rs111380766 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr10:92813180delA ENST00000423621.1 + 0 264 TGGGCCTGATAAAAAAAAAGC 0.343 7 78 --- --- --- --- TTC40 54777 broad.mit.edu 37 10 134743281 134743282 + Frame_Shift_Ins INS - - C TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr10:134743281_134743282insC ENST00000368586.5 - 9 993_994 c.893_894insG c.(892-894)cttfs p.L298fs TTC40_ENST00000368582.2_Frame_Shift_Ins_p.L298fs|TTC40_ENST00000368585.3_Frame_Shift_Ins_p.L298fs NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 0 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TCAAGGAAAAACGCGCCAATTC 0.495 7 269 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) atcatcatcatcctcctcctcct 0.635 10 160 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000529259.1_3'UTR NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 12 718 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118772046 118772047 + Frame_Shift_Ins INS - - C TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr11:118772046_118772047insC ENST00000334801.3 - 6 3369_3370 c.2405_2406insG c.(2404-2406)gccfs p.A802fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 802 Met-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) AGTCCCCAGGGCCCCGCATCTT 0.594 8 245 --- --- --- --- C1QTNF5 114902 broad.mit.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr11:119210189_119210190insC ENST00000445041.2 - 15 3378_3379 c.583_584insG c.(583-585)catfs p.H195fs MFRP_ENST00000530681.1_3'UTR|MFRP_ENST00000555262.1_3'UTR|C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|C1QTNF5_ENST00000525657.1_5'UTR NM_001278431.1|NM_015645.3|NM_031433.2 NP_001265360.1|NP_056460.1|NP_113621.1 Q9BY79 MFRP_HUMAN C1q and tumor necrosis factor related protein 5 147 CUB 1. embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CCTCACCATGGCCCCCCCCGAG 0.589 10 471 --- --- --- --- ACRBP 84519 broad.mit.edu 37 12 6747481 6747483 + In_Frame_Del DEL CTC CTC - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr12:6747481_6747483delCTC ENST00000229243.2 - 10 1690_1692 c.1597_1599delGAG c.(1597-1599)del p.E533del ACRBP_ENST00000414226.2_In_Frame_Del_p.E500del NM_032489.2 NP_115878.2 Q8NEB7 ACRBP_HUMAN acrosin binding protein 533 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 AGGTGCTGAACTCCTGGCTCCAT 0.542 19 273 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124824721 124824722 + In_Frame_Ins INS - - GCCGCTGCT rs72177573 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr12:124824721_124824722insGCCGCTGCT ENST00000356219.3 - 38 5693_5694 c.5538_5539insAGCAGCGGC c.(5536-5541)gggggg>ggAGCAGCGGCgggg p.1846_1847GG>GAAAG NCOR2_ENST00000405201.1_In_Frame_Ins_p.1839_1840GG>GAAAG|NCOR2_ENST00000404621.1_In_Frame_Ins_p.1829_1830GG>GAAAG|NCOR2_ENST00000397355.1_In_Frame_Ins_p.1830_1831GG>GAAAG|NCOR2_ENST00000429285.2_In_Frame_Ins_p.1829_1830GG>GAAAG|NCOR2_ENST00000404121.2_In_Frame_Ins_p.1400_1401GG>GAAAG NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1850 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) cccccacccccgccgctgctgc 0.713 10 128 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21961060 21961062 + In_Frame_Del DEL GCT GCT - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr14:21961060_21961062delGCT ENST00000405508.1 + 8 1561_1563 c.1285_1287delGCT c.(1285-1287)del p.A434del TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del O94842 TOX4_HUMAN TOX high mobility group box family member 4 434 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGCAGCAGCAGCTGCTGCTGCTG 0.581 8 924 --- --- --- --- TRAV12-3 0 broad.mit.edu 37 14 22433684 22433684 + RNA DEL T T - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr14:22433684delT ENST00000390442.3 + 0 5 TTTGTTATTATTTTTTTTTCG 0.353 9 146 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93761192 93761193 + Frame_Shift_Ins INS - - T TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr14:93761192_93761193insT ENST00000334746.5 - 3 480_481 c.173_174insA c.(172-174)aagfs p.K58fs BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 58 p.K58fs*44(2)|p.R59fs*14(2) 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) CAGAGGTTCTCTTTTTTTTGTC 0.441 8 848 --- --- --- --- CTD-2547E10.2 0 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 2 4 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 18 85 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 8 269 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 14 315 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226508 88226510 + RNA DEL TGA TGA - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr16:88226508_88226510delTGA ENST00000568587.1 - 0 91 gtgatggtggtgatgatggaggt 0.478 2 4 --- --- --- --- PROCA1 147011 broad.mit.edu 37 17 27031408 27031409 + Frame_Shift_Ins INS - - C TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr17:27031408_27031409insC ENST00000301039.2 - 3 465_466 c.272_273insG c.(271-273)gccfs p.A91fs PROCA1_ENST00000439862.3_Frame_Shift_Ins_p.A93fs|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR NM_152465.1 NP_689678.1 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 119 lipid catabolic process calcium ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) AGCAGGTTGGGCCCGCGCCCCG 0.639 7 1221 --- --- --- --- ABCA6 23460 broad.mit.edu 37 17 67125766 67125767 + Frame_Shift_Ins INS - - A TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr17:67125766_67125767insA ENST00000284425.2 - 7 1091_1092 c.917_918insT c.(916-918)ttafs p.L306fs NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 306 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATAAGCCATATAAAAAAAAGAG 0.307 7 497 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 10 1275 --- --- --- --- KIRREL2 84063 broad.mit.edu 37 19 36357152 36357153 + Frame_Shift_Ins INS - - C TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr19:36357152_36357153insC ENST00000360202.5 + 15 2083_2084 c.1885_1886insC c.(1885-1887)cccfs p.P629fs KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Frame_Shift_Ins_p.P609fs|KIRREL2_ENST00000592409.1_Frame_Shift_Ins_p.P594fs|NPHS1_ENST00000591817.1_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 629 Pro-rich. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCCACCACCCTCCCCCCTTGGG 0.624 7 408 --- --- --- --- AC006293.3 0 broad.mit.edu 37 19 55221804 55221805 + RNA INS - - AC rs45583536 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr19:55221804_55221805insAC ENST00000413439.1 + 0 1415 CAGAGACAGAGACTGAGGGTCC 0.614 24 22 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr20:29628310_29628312delAGG ENST00000278882.3 + 6 692_694 c.312_314delAGG c.(310-315)gca>gc p.AG104del FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del|FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAGAA 0.355 8 456 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 7 156 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcg>gc p.AL139del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 139 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 12 410 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 502 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AAGCcagcaacagcagcagcagc 0.532 7 139 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 7 530 --- --- --- --- F8 2157 broad.mit.edu 37 X 154157686 154157686 + Frame_Shift_Del DEL T T - TCGA-HV-AA8V-01A-11D-A40W-08 TCGA-HV-AA8V-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b232a50f-86ac-46b8-b90f-97355698a754 a91f227e-e168-4f76-af62-e5e0aabcfb17 g.chrX:154157686delT ENST00000360256.4 - 14 4579 c.4379delA c.(4378-4380)atfs p.N1461fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1461 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.N1460fs*5(2)|p.N1460fs*2(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGAAAGGTTATTTTTTTTGGC 0.413 7 340 --- --- --- ---