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 PROS1 5627 broad.mit.edu 37 3 93624931 93624931 + Missense_Mutation SNP T T C TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr3:93624931T>C ENST00000394236.3 - 5 719 c.403A>G c.(403-405)Aaa>Gaa p.K135E PROS1_ENST00000407433.1_Missense_Mutation_p.K4E NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 135 EGF-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTTCCATCTTTGCAGCTCATA 0.408000 5 135 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21425086 21425086 + Silent SNP T T G TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr18:21425086T>G ENST00000313654.9 + 30 3958 c.3717T>G c.(3715-3717)ctT>ctG p.L1239L LAMA3_ENST00000399516.3_Silent_p.L1239L NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1239 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTTTTACCTTGAGTGAGTAT 0.493000 4 54 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr17:7578394T>C ENST00000420246.2 - 5 668 c.536A>G c.(535-537)cAt>cGt p.H179R TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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) GCAGCGCTCATGGTGGGGGCA 0.642000 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) 7 60 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 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 6 182 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44101079 44101079 + Silent SNP C C T rs115227860 byFrequency TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr2:44101079C>T ENST00000272286.2 + 9 1455 c.1365C>T c.(1363-1365)atC>atT p.I455I NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 455 ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGTTCATGATCGGTGCTCTCA 0.547000 8 468 0 0 1 0 0 SPP2 6694 broad.mit.edu 37 2 234969077 234969077 + Missense_Mutation SNP G G A TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr2:234969077G>A ENST00000168148.3 + 4 486 c.398G>A c.(397-399)cGc>cAc p.R133H SPP2_ENST00000373368.1_Missense_Mutation_p.R133H NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 133 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) GTGCATGCTCGCTGCAGCTGG 0.577000 4 43 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 46 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 167 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16956491 16956491 + RNA SNP C C G TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr1:16956491C>G ENST00000412962.1 - 0 294 gatggggtttcgccatgttgg 0.577000 3 12 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 7 114 0 0 1 0 0 RINT1 60561 broad.mit.edu 37 7 105190771 105190771 + Missense_Mutation SNP C C A TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr7:105190771C>A ENST00000257700.2 + 9 1402 c.1171C>A c.(1171-1173)Ctg>Atg p.L391M NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 391 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TATTCCTTGTCTGCTATATGA 0.388000 5 219 0.0293803 0.0293803 1 1 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 10 90 0 0 1 0 0 PSMD12 5718 broad.mit.edu 37 17 65341917 65341917 + Silent SNP T T A TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr17:65341917T>A ENST00000356126.3 - 8 959 c.852A>T c.(850-852)tcA>tcT p.S284S PSMD12_ENST00000357146.4_Silent_p.S264S NM_002816.3 NP_002807.1 O00232 PSD12_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 284 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) GAACCAAATCTGACTGTTCAT 0.358000 12 94 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461589 11461589 + Missense_Mutation SNP A A G TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr12:11461589A>G ENST00000279575.1 - 3 361 c.328T>C c.(328-330)Tcc>Ccc p.S110P PRB4_ENST00000535904.1_Missense_Mutation_p.S110P|PRB4_ENST00000445719.2_Missense_Mutation_p.S110P NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 152 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GTACCTTGGGACTGGTTTCCT 0.602000 HNSCC(22;0.051) 5 324 0 0 1 0 0 CPO 130749 broad.mit.edu 37 2 207814342 207814342 + Splice_Site SNP T T C TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr2:207814342T>C ENST00000272852.3 + 2 116 c.68_splice c.e2-1 p.S24_splice NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 24 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) CCTTTGCAGATCCTTAGCCCA 0.473000 6 81 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 96 0 0 1 0 0 CCDC6 8030 broad.mit.edu 37 10 61666066 61666066 + Silent SNP T T C TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr10:61666066T>C ENST00000263102.6 - 1 348 c.117A>G c.(115-117)ggA>ggG p.G39G NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 39 Poly-Gly. cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) cgccgccgcctcccccgccgc 0.726000 T RET NSCLC 10 25 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 8 85 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111423902 111423902 + Missense_Mutation SNP T T C TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr2:111423902T>C ENST00000535254.1 - 8 902 c.835A>G c.(835-837)Aag>Gag p.K279E BUB1_ENST00000409311.1_Missense_Mutation_p.K299E|BUB1_ENST00000302759.6_Missense_Mutation_p.K299E NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 299 MKRK -> IRHE (in Ref. 7; AAC39546). apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TGATGCAACTTCTTATGAAGT 0.428000 4 35 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109688782 109688782 + Silent SNP A A G rs137905921 TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr9:109688782A>G ENST00000277225.5 + 3 2878 c.2589A>G c.(2587-2589)caA>caG p.Q863Q ZNF462_ENST00000457913.1_Silent_p.Q863Q Q96JM2 ZN462_HUMAN zinc finger protein 462 863 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCCACTACCAACGAATGCACC 0.433000 5 235 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49957597 49957597 + Silent SNP A A G TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chrX:49957597A>G ENST00000376056.2 - 5 1890 c.1740T>C c.(1738-1740)ggT>ggC p.G580G AKAP4_ENST00000358526.2_Silent_p.G589G|AKAP4_ENST00000376058.2_Silent_p.G206G|AKAP4_ENST00000376064.3_Silent_p.G580G|AKAP4_ENST00000481402.1_5'UTR Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 589 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) CACTTTGGCCACCTCCACACT 0.488000 5 119 0 0 1 0 0 NDE1 54820 broad.mit.edu 37 16 15785008 15785008 + Silent SNP G G A TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr16:15785008G>A ENST00000396355.1 + 7 1357 c.531G>A c.(529-531)cgG>cgA p.R177R NDE1_ENST00000396353.2_Silent_p.R177R|NDE1_ENST00000342673.5_Silent_p.R177R|NDE1_ENST00000396354.1_Silent_p.R177R NM_001143979.1 NP_001137451.1 Q9NXR1 NDE1_HUMAN nudE neurodevelopment protein 1 177 Interaction with CENPF (By similarity). cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 CAGATTTGCGGCAGGAACTGG 0.572000 3 44 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304747 102304747 + RNA SNP A A C rs146447248 by1000genomes TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr15:102304747A>C ENST00000561463.1 + 0 12793 CTCGTGGAGGAGTCGGCAGAG 0.607000 4 36 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102294627 102294627 + RNA SNP C C T TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr15:102294627C>T ENST00000561463.1 + 0 2673 AGCGGTGCGACGAGATGCTGC 0.587000 5 19 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 4 77 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76813106 76813106 + Missense_Mutation SNP T T G TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chrX:76813106T>G ENST00000373344.5 - 30 6729 c.6515A>C c.(6514-6516)gAa>gCa p.E2172A ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E2134A NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2172 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AATCTTATCTTCCATGGTTCC 0.338000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 4 124 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94057712 94057712 + Missense_Mutation SNP C C T TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr7:94057712C>T ENST00000297268.6 + 50 4105 c.3634C>T c.(3634-3636)Cca>Tca p.P1212S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1212 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGAAAACATCCCAGCCAAGAA 0.488000 HNSCC(75;0.22) 9 108 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161494732 161494732 + Missense_Mutation SNP G G A TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr1:161494732G>A ENST00000309758.4 + 1 697 c.284G>A c.(283-285)cGg>cAg p.R95Q NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 95 R -> Q. response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGGCCCTTCCGGGTGGTGAGC 0.642000 3 51 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166820 19166820 + Nonsense_Mutation SNP G G T TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr1:19166820G>T ENST00000375371.3 - 6 1814 c.1793C>A c.(1792-1794)tCg>tAg p.S598* NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 598 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GCCCCCAGCCGAGCGAACTAT 0.647000 6 47 5.9392e-07 6.25179e-07 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144904704 144904704 + Missense_Mutation SNP G G A rs141639076 byFrequency TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr1:144904704G>A ENST00000529945.1 - 16 3536 c.3097C>T c.(3097-3099)Cgg>Tgg p.R1033W PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R870W|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R870W|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1007W|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R936W|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R870W|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1007W|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R870W|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R1033W|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R657W Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 870 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGCCGACTCCGTTCATCTACT 0.453000 T PDGFRB MPD 7 229 0 0 1 0 0 ACPL2 92370 broad.mit.edu 37 3 141011151 141011151 + Missense_Mutation SNP A A G TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr3:141011151A>G ENST00000508812.1 + 5 2427 c.520A>G c.(520-522)Atc>Gtc p.I174V ACPL2_ENST00000504264.1_Missense_Mutation_p.I166V|ACPL2_ENST00000286353.4_Missense_Mutation_p.I183V|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Missense_Mutation_p.I183V|ACPL2_ENST00000502783.1_Missense_Mutation_p.I145V|ACPL2_ENST00000393007.1_Missense_Mutation_p.I167V Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 183 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 GCTGAGGGATATCTATCTAAA 0.483000 4 100 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 72 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26608820 26608843 + In_Frame_Del DEL GGGACTGGGGCCGGGACCGGGACC GGGACTGGGGCCGGGACCGGGACC - rs66614970 by1000genomes TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC ENST00000314675.7 - 11 1229_1252 c.1150_1173delGGTCCCGGTCCCGGCCCCAGTCCC c.(1150-1173)del p.GPGPGPSP384del UBXN11_ENST00000374223.1_In_Frame_Del_p.GPGPGPSP261del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374222.1_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPGPGPSP471del NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 504 cytoplasm|cytoskeleton p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 gtccaggacagggactggggccgggaccgggaccgggactgggg 0.714 11 19 --- --- --- --- CHRD 8646 broad.mit.edu 37 3 184100448 184100458 + Frame_Shift_Del DEL GAAGGCCCCCC GAAGGCCCCCC - TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr3:184100448_184100458delGAAGGCCCCCC ENST00000204604.1 + 8 1114_1124 c.868_878delGAAGGCCCCCC c.(868-879)afs p.EGPP290fs CHRD_ENST00000450923.1_Frame_Shift_Del_p.EGPP290fs|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Frame_Shift_Del_p.EGPP290fs NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 290 CHRD 2. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCTGACTCTAGAAGGCCCCCCACAGCAGGGC 0.578 8 67 --- --- --- --- RP11-1252I4.2 0 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 3 3 --- --- --- --- MAMDC4 158056 broad.mit.edu 37 9 139749473 139749474 + Frame_Shift_Ins INS - - C TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr9:139749473_139749474insC ENST00000445819.1 + 10 1158_1159 c.1108_1109insC c.(1108-1110)cccfs p.P370fs MAMDC4_ENST00000317446.2_Frame_Shift_Ins_p.P370fs|MAMDC4_ENST00000485732.1_3'UTR Q6UXC1 AEGP_HUMAN MAM domain containing 4 370 MAM 2. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) cgccccccgggcccccgTCCTG 0.678 7 19 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174141 13174142 + RNA INS - - AACAAC rs112328257 by1000genomes TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr12:13174141_13174142insAACAAC ENST00000543321.1 + 0 1025 tctgtctcaaaaacaacaacaa 0.550 3 6 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148691 45148693 + In_Frame_Del DEL TGT TGT - rs148625973 TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr13:45148691_45148693delTGT ENST00000458659.2 - 1 2008_2010 c.1518_1520delACA c.(1516-1521)cag>ca p.QQ508del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 508 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGgttgttgctgttgttgttgtt 0.502 8 150 --- --- --- --- IGHG3 0 broad.mit.edu 37 14 106237021 106237022 + RNA DEL AT AT - TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr14:106237021_106237022delAT ENST00000390551.2 - 0 328_329 CACCGTGGGCATGTGTGAGTTG 0.584 8 209 --- --- --- --- DNM1P46 0 broad.mit.edu 37 15 100340123 100340125 + RNA DEL AGA AGA - TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr15:100340123_100340125delAGA ENST00000341853.1 - 0 801_803 NR_003260.1 AGCAGCTCCGAGAAGATGAACTC 0.611 9 21 --- --- --- --- RP11-156P1.3 0 broad.mit.edu 37 17 45128639 45128639 + RNA DEL T T - TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr17:45128639delT ENST00000575173.1 - 0 418 tttttttttgttttgtttttt 0.323 7 145 --- --- --- --- ODF3B 440836 broad.mit.edu 37 22 50968896 50968896 + Frame_Shift_Del DEL C C - TCGA-DU-5872-02A-21D-A36O-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50014300-ff2e-49f6-857d-dd3e1f22a588 ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr22:50968896delC ENST00000405135.1 - 6 890 c.821delG c.(820-822)gafs p.G274fs ODF3B_ENST00000401779.1_Frame_Shift_Del_p.G235fs|ODF3B_ENST00000403326.1_3'UTR|ODF3B_ENST00000329363.4_3'UTR A8MYP8 ODF3B_HUMAN outer dense fiber of sperm tails 3B 0 lung(2) 2 TGGGGCCGCTCCCGCCTGGCG 0.687 2 4 --- --- --- ---