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 RP1 6101 broad.mit.edu 37 8 55538977 55538977 + Silent SNP G G A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr8:55538977G>A ENST00000220676.1 + 4 2683 c.2535G>A c.(2533-2535)ggG>ggA p.G845G NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 845 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGGCATCTGGGTATTTGAGAG 0.338000 23 109 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 4 55 0 0 1 0 0 BPIFB4 149954 broad.mit.edu 37 20 31682956 31682956 + Silent SNP C C A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr20:31682956C>A ENST00000375483.3 + 10 1395 c.1395C>A c.(1393-1395)ccC>ccA p.P465P NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 465 cytoplasm|extracellular region lipid binding CCCTGATCCCCAAGGTATGTA 0.532000 6 74 5.9392e-07 6.17677e-07 1 1 0 AGER 177 broad.mit.edu 37 6 32150159 32150159 + Missense_Mutation SNP G G A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr6:32150159G>A ENST00000375076.4 - 8 930 c.829C>T c.(829-831)Ccc>Tcc p.P277S AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375067.3_Intron|AGER_ENST00000375055.2_Missense_Mutation_p.P277S|AGER_ENST00000438221.2_Missense_Mutation_p.P293S|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Missense_Mutation_p.P176S|AGER_ENST00000375070.3_Missense_Mutation_p.P308S NM_001136.4|NM_001206929.1|NM_001206932.1 NP_001127.1|NP_001193858.1|NP_001193861.1 Q15109 RAGE_HUMAN advanced glycosylation end product-specific receptor 277 Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1)|endometrium(1)|lung(5)|pancreas(2) 9 AGGGGCAAGGGCACACCCTGG 0.587000 15 28 0 0 1 0 0 TUBA4A 7277 broad.mit.edu 37 2 220115819 220115819 + Missense_Mutation SNP G G C TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr2:220115819G>C ENST00000392088.2 - 4 1112 c.557C>G c.(556-558)gCc>gGc p.A186G TUBA4A_ENST00000248437.4_Missense_Mutation_p.A201G|TUBA4A_ENST00000498660.1_5'UTR NM_001278552.1 NP_001265481.1 P68366 TBA4A_HUMAN tubulin, alpha 4a 201 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACCATGAAGGCACAGTCTGA 0.552000 19 100 0 0 1 0 0 NCBP1 4686 broad.mit.edu 37 9 100431229 100431229 + Silent SNP A A G TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr9:100431229A>G ENST00000375147.3 + 21 2374 c.2118A>G c.(2116-2118)caA>caG p.Q706Q NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 706 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) AGAGTGAACAAAAGAATCTTT 0.353000 28 47 0 0 1 0 0 SLC6A15 55117 broad.mit.edu 37 12 85255473 85255473 + Missense_Mutation SNP G G A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr12:85255473G>A ENST00000266682.5 - 12 2672 c.2131C>T c.(2131-2133)Cgg>Tgg p.R711W SLC6A15_ENST00000552192.1_Missense_Mutation_p.R604W|SLC6A15_ENST00000309283.7_3'UTR NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 711 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 ATTCCATACCGTCCATTGGGA 0.413000 41 77 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75968987 75968987 + Missense_Mutation SNP C C T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr15:75968987C>T ENST00000308508.5 - 10 5965 c.5873G>A c.(5872-5874)cGc>cAc p.R1958H CTD-2026K11.1_ENST00000569467.1_RNA NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1958 Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CAGTGAGGAGCGCCCCAAAGC 0.662000 4 70 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6061684 6061684 + Splice_Site SNP C C T rs149834874 byFrequency TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr12:6061684C>T ENST00000261405.5 - 49 8242 c.7986_splice c.e49-1 p.R2663_splice NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2663 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CGTCTCATCACGCTGGAAGGA 0.498000 9 10 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62296914 62296914 + Missense_Mutation SNP C C T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr11:62296914C>T ENST00000378024.4 - 5 5249 c.4975G>A c.(4975-4977)Gac>Aac p.D1659N AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1659 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AAGTGTAAGTCCACATCGGGC 0.473000 131 172 0 0 1 0 0 IQCF2 389123 broad.mit.edu 37 3 51897229 51897229 + Nonsense_Mutation SNP G G A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr3:51897229G>A ENST00000333127.3 + 3 367 c.338G>A c.(337-339)tGg>tAg p.W113* IQCF2_ENST00000429548.1_3'UTR NM_203424.1 NP_982248.1 Q8IXL9 IQCF2_HUMAN IQ motif containing F2 113 IQ 2. endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GTCCGTATGTGGCGTGTCCGC 0.597000 22 33 0 0 1 0 0 TOR1AIP1 26092 broad.mit.edu 37 1 179873145 179873145 + Nonsense_Mutation SNP C C T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr1:179873145C>T ENST00000435319.3 + 6 975 c.784C>T c.(784-786)Cag>Tag p.Q262* TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Nonsense_Mutation_p.Q263* NM_001267578.1|NM_015602.3 NP_001254507.1|NP_056417.2 Q5JTV8 TOIP1_HUMAN torsin A interacting protein 1 262 integral to membrane|nuclear inner membrane breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 18 ATCATTTTGGCAGTCATCACA 0.303000 3 37 0 0 1 0 0 DPPA3P2 0 broad.mit.edu 37 14 36840760 36840760 + RNA SNP G G A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr14:36840760G>A ENST00000557188.1 + 0 391 GACTATCAACGCTAGTAGCGA 0.488000 9 12 0 0 1 0 0 PCDHGA2 0 broad.mit.edu 37 5 140720504 140720504 + Missense_Mutation SNP G G A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr5:140720504G>A ENST00000394576.2 + 1 1966 c.1966G>A c.(1966-1968)Gcc>Acc p.A656T PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.A656T(1) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTCTCTCCGCCACTGTCAC 0.701000 33 48 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139629181 139629181 + Silent SNP G G A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr8:139629181G>A ENST00000303045.6 - 54 4292 c.3846C>T c.(3844-3846)ggC>ggT p.G1282G COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G1262G NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1282 Collagen-like 12.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.G1282G(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CACCAGAATCGCCTGTGTGTC 0.587000 HNSCC(7;0.00092) 5 148 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53044633 53044633 + Missense_Mutation SNP G G T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr8:53044633G>T ENST00000276480.7 - 22 3234 c.2551C>A c.(2551-2553)Cct>Act p.P851T NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 851 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CCATTGAGAGGATTCTCCTTC 0.498000 10 114 0.000673444 0.000686649 1 1 0 PPP1R12C 54776 broad.mit.edu 37 19 55603825 55603825 + Silent SNP G G A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr19:55603825G>A ENST00000263433.3 - 18 2055 c.2040C>T c.(2038-2040)gaC>gaT p.D680D PPP1R12C_ENST00000376393.2_Silent_p.D617D|PPP1R12C_ENST00000435544.2_Silent_p.D605D NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 680 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) TAAAGCCTCCGTCTGGCTCTT 0.706000 7 5 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2857534 2857534 + Missense_Mutation SNP C C T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr8:2857534C>T ENST00000520002.1 - 54 8707 c.8152G>A c.(8152-8154)Gtg>Atg p.V2718M CSMD1_ENST00000602723.1_Missense_Mutation_p.V2660M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2660M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V2718M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V2659M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V2717M Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2718 Sushi 18. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CATATCCTCACGGAAGTTCCC 0.507000 43 27 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233271622 233271622 + Silent SNP G G T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr2:233271622G>T ENST00000295453.3 + 1 70 c.18G>T c.(16-18)gtG>gtT p.V6V NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 6 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GGCCCTGGGTGCTGCTCCTGC 0.617000 32 39 9.04072e-19 9.59423e-19 1 1 0 GPR97 222487 broad.mit.edu 37 16 57718380 57718380 + Missense_Mutation SNP G G A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr16:57718380G>A ENST00000333493.4 + 10 1402 c.1241G>A c.(1240-1242)cGc>cAc p.R414H GPR97_ENST00000327655.6_Missense_Mutation_p.R204H|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.R294H NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 414 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AGGGAGAACCGCACCTCTCTG 0.632000 14 10 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90482337 90482337 + Missense_Mutation SNP C C T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr6:90482337C>T ENST00000369393.3 - 14 2153 c.2038G>A c.(2038-2040)Ggg>Agg p.G680R MDN1_ENST00000428876.1_Missense_Mutation_p.G680R Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 680 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.G680W(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTGCCAGTCCCGGTCTCTCCC 0.498000 3 61 0 0 1 0 0 LGALS7B 653499 broad.mit.edu 37 19 39281377 39281377 + Silent SNP C C G TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr19:39281377C>G ENST00000314980.4 + 3 160 c.144C>G c.(142-144)gcC>gcG p.A48A NM_001042507.3 NP_001035972.1 P47929 LEG7_HUMAN lectin, galactoside-binding, soluble, 7B 48 Galectin. apoptosis|heterophilic cell-cell adhesion cytoplasm|extracellular space|nucleus sugar binding CCGATGCCGCCCTGCATTTCA 0.652000 3 50 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55264119 55264119 + Missense_Mutation SNP G G C TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr5:55264119G>C ENST00000381298.2 - 5 788 c.476C>G c.(475-477)aCt>aGt p.T159S IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.T159S|IL6ST_ENST00000536319.1_Missense_Mutation_p.T159S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.T159S|IL6ST_ENST00000502326.3_Missense_Mutation_p.T159S|IL6ST_ENST00000522633.2_Missense_Mutation_p.T159S|IL6ST_ENST00000336909.5_Missense_Mutation_p.T159S|IL6ST_ENST00000381293.2_Intron NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 159 Fibronectin type-III 1. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) AGATTTTAAAGTGAAGTTTGT 0.318000 O hepatocellular ca 10 11 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17280821 17280821 + Silent SNP C C T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr22:17280821C>T ENST00000331428.5 - 3 531 c.429G>A c.(427-429)acG>acA p.T143T NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 143 T -> M (in dbSNP:rs5748648). integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TTTCCAGCATCGTGTTTCTCT 0.403000 22 39 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136649 40136649 + Silent SNP C C T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr11:40136649C>T ENST00000278198.2 - 2 3157 c.1194G>A c.(1192-1194)gcG>gcA p.A398A LRRC4C_ENST00000528697.1_Silent_p.A398A|LRRC4C_ENST00000527150.1_Silent_p.A398A|LRRC4C_ENST00000530763.1_Silent_p.A398A Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 398 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GCACTTTGTACGCCCCATGTG 0.463000 64 101 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149441301 149441301 + Missense_Mutation SNP T T G TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr5:149441301T>G ENST00000286301.3 - 12 2029 c.1738A>C c.(1738-1740)Aac>Cac p.N580H CSF1R_ENST00000515239.1_5'UTR NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 580 cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) TGCAGGTTGTTCCGGGGGAAC 0.577000 8 53 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32586457 32586457 + Missense_Mutation SNP T T G TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr14:32586457T>G ENST00000345122.3 + 3 4144 c.3829T>G c.(3829-3831)Ttt>Gtt p.F1277V ARHGAP5_ENST00000556611.1_Missense_Mutation_p.F1276V|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.F16V|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.F1276V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.F1277V NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 1277 Rho-GAP. cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CATACCACTATTTGTTGAGAA 0.368000 23 45 0 0 1 0 0 GSDMD 79792 broad.mit.edu 37 8 144643207 144643207 + Silent SNP G G A rs145648319 TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr8:144643207G>A ENST00000526406.1 + 8 1498 c.615G>A c.(613-615)acG>acA p.T205T GSDMD_ENST00000262580.4_Silent_p.T205T|GSDMD_ENST00000533063.1_Silent_p.T253T NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 205 breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 AGAAGAAGACGGTCACCATCC 0.687000 4 108 0 0 1 0 0 ALKBH3 221120 broad.mit.edu 37 11 43918832 43918832 + Missense_Mutation SNP C C G TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr11:43918832C>G ENST00000378840.4 + 7 860 c.455C>G c.(454-456)tCg>tGg p.S152W ALKBH3_ENST00000532410.1_Intron|ALKBH3_ENST00000302708.4_Intron Q96Q83 ALKB3_HUMAN alkB, alkylation repair homolog 3 (E. coli) 0 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|kidney(1)|lung(4)|prostate(1) 8 Vitamin C(DB00126) GAGCGCCCGTCGCCACCCCAC 0.478000 Direct reversal of damage 24 52 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34003558 34003558 + Missense_Mutation SNP C C T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr6:34003558C>T ENST00000374181.3 - 8 2498 c.2329G>A c.(2329-2331)Gtg>Atg p.V777M GRM4_ENST00000535756.1_Missense_Mutation_p.V644M|GRM4_ENST00000374177.3_Missense_Mutation_p.V661M|GRM4_ENST00000544773.1_Missense_Mutation_p.V608M|GRM4_ENST00000538487.1_Missense_Mutation_p.V777M|GRM4_ENST00000545715.1_Missense_Mutation_p.V469M|GRM4_ENST00000455714.2_Missense_Mutation_p.V637M NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 777 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GTCTCGGGCACGCCGCGTGTC 0.577000 7 18 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 50 0 0 1 0 0 SNRPA1 6627 broad.mit.edu 37 15 101821982 101821982 + Missense_Mutation SNP T T G TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr15:101821982T>G ENST00000254193.6 - 9 787 c.715A>C c.(715-717)Act>Cct p.T239P NM_003090.2 NP_003081.2 P09661 RU2A_HUMAN small nuclear ribonucleoprotein polypeptide A' 239 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCATCATCAGTGGGCCCTAAA 0.433000 10 27 0 0 1 0 0 ACY1 95 broad.mit.edu 37 3 52022810 52022810 + Missense_Mutation SNP C C T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr3:52022810C>T ENST00000458031.2 + 16 1531 c.1300C>T c.(1300-1302)Cct>Tct p.P434S ACY1_ENST00000494103.1_Missense_Mutation_p.P272S|ACY1_ENST00000476351.1_Missense_Mutation_p.P309S|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.P445S|ACY1_ENST00000476854.1_Missense_Mutation_p.P279S|ACY1_ENST00000404366.2_Missense_Mutation_p.P344S Q03154 ACY1_HUMAN aminoacylase 1 344 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) TGAGATCATGCCTGCTGCCAC 0.557000 85 141 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145442111 145442111 + Silent SNP G G A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr5:145442111G>A ENST00000511217.1 + 9 2089 c.2037G>A c.(2035-2037)gcG>gcA p.A679A SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.A679A Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 679 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGAAGCAGCGTCCTTGGGCC 0.597000 22 33 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51503463 51503463 + Missense_Mutation SNP C C A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr8:51503463C>A ENST00000522124.1 + 13 1496 c.835C>A c.(835-837)Cct>Act p.P279T SNTG1_ENST00000518864.1_Missense_Mutation_p.P279T|SNTG1_ENST00000517473.1_Missense_Mutation_p.P279T|SNTG1_ENST00000276467.5_Missense_Mutation_p.P279T NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 279 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CAGAAACTTTCCTGTAAACCA 0.284000 4 72 0.014758 0.014758 1 1 0 ABCA3 21 broad.mit.edu 37 16 2334347 2334347 + Silent SNP G G A rs140948738 TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr16:2334347G>A ENST00000301732.5 - 25 4495 c.3795C>T c.(3793-3795)taC>taT p.Y1265Y ABCA3_ENST00000382381.3_Silent_p.Y1207Y NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1265 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CGTAGTTCTCGTAGAAACTGC 0.577000 40 47 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295549 62295549 + Missense_Mutation SNP C C T rs1298288 TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr11:62295549C>T ENST00000378024.4 - 5 6614 c.6340G>A c.(6340-6342)Gcc>Acc p.A2114T AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2114 A -> T (in dbSNP:rs1298288). nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATCTTGGGGGCCTTGAAGTGC 0.507000 5 242 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 48 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077106 19077106 + Missense_Mutation SNP C C T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr11:19077106C>T ENST00000329773.2 - 2 931 c.844G>A c.(844-846)Gtg>Atg p.V282M NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 282 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 AAAGAGCCCACGAAGAAGTAA 0.498000 20 39 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2892200 2892200 + Missense_Mutation SNP C C T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr18:2892200C>T ENST00000254528.3 + 4 2234 c.2075C>T c.(2074-2076)aCg>aTg p.T692M NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 692 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) AAGGAATGCACGCAGGGGGTC 0.577000 3 45 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 68 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112647723 112647723 + Missense_Mutation SNP C C T TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr3:112647723C>T ENST00000471858.1 - 4 872 c.640G>A c.(640-642)Gtg>Atg p.V214M CD200R1_ENST00000295863.4_Missense_Mutation_p.V192M|CD200R1_ENST00000308611.3_Missense_Mutation_p.V237M NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 214 Ig-like C2-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 TGGCAGGTCACGGTAGACACA 0.443000 13 37 0 0 1 0 0 GLYATL2 219970 broad.mit.edu 37 11 58602146 58602146 + Missense_Mutation SNP C C G TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr11:58602146C>G ENST00000287275.1 - 6 1031 c.641G>C c.(640-642)tGg>tCg p.W214S GLYATL2_ENST00000532258.1_Missense_Mutation_p.W214S NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 214 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) CATCACAATCCAAGAGACAAG 0.448000 19 25 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32476323 32476323 + Missense_Mutation SNP G G A TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr2:32476323G>A ENST00000404025.2 - 5 1098 c.610C>T c.(610-612)Cgt>Tgt p.R204C NLRC4_ENST00000402280.1_Missense_Mutation_p.R204C|NLRC4_ENST00000360906.5_Missense_Mutation_p.R204C|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 204 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CTGCTGAGACGGAGGAAGAAG 0.527000 5 76 0 0 1 0 0 C1orf94 84970 broad.mit.edu 37 1 34666535 34666537 + In_Frame_Del DEL AGA AGA - TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr1:34666535_34666537delAGA ENST00000488417.1 + 3 1292_1294 c.1172_1174delAGA c.(1171-1176)gag>g p.EK391del C1orf94_ENST00000373374.3_In_Frame_Del_p.EK201del NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 201 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) TGTCCAGCCGAGAAGAACTTGCT 0.586 10 6 --- --- --- --- AC018737.1 0 broad.mit.edu 37 2 122466739 122466740 + RNA INS - - T rs6733674 by1000genomes TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr2:122466739_122466740insT ENST00000419902.1 + 0 637 NR_037857.1 tttttttgttgttttttttttg 0.460 2 4 --- --- --- --- CELSR3 1951 broad.mit.edu 37 3 48697516 48697526 + Frame_Shift_Del DEL GCATCTGTGAT GCATCTGTGAT - TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr3:48697516_48697526delGCATCTGTGAT ENST00000544264.1 - 1 2822_2832 c.2542_2552delATCACAGATGC c.(2542-2553)cfs p.ITDA848fs CELSR3_ENST00000164024.4_Frame_Shift_Del_p.ITDA848fs Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 848 Cadherin 5. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ATGAGTGTTGGCATCTGTGATGTTGATGTGC 0.507 28 79 --- --- --- --- EYS 346007 broad.mit.edu 37 6 66115212 66115213 + Frame_Shift_Ins INS - - A rs34676630 TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr6:66115212_66115213insA ENST00000503581.1 - 6 1447_1448 c.910_911insT c.(910-912)gaafs p.E304fs EYS_ENST00000370621.3_Frame_Shift_Ins_p.E304fs|EYS_ENST00000393380.2_Frame_Shift_Ins_p.E304fs|EYS_ENST00000370616.2_Frame_Shift_Ins_p.E304fs|EYS_ENST00000370618.3_Frame_Shift_Ins_p.E304fs|EYS_ENST00000342421.5_Frame_Shift_Ins_p.E304fs NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 304 response to stimulus|visual perception extracellular region calcium ion binding p.W304*(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TCCTCTTTTCCAAAAAAGCAGA 0.371 10 126 --- --- --- --- CD6 923 broad.mit.edu 37 11 60739360 60739367 + Frame_Shift_Del DEL CTGGATTG CTGGATTG - TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr11:60739360_60739367delCTGGATTG ENST00000313421.7 + 1 209_216 c.23_30delCTGGATTG c.(22-30)afs p.TGL8fs CD6_ENST00000344028.5_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000452451.2_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000352009.5_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000346437.4_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000545105.1_3'UTR NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 8 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 TTCGGGATCACTGGATTGCTGACGGCAG 0.639 5 9 --- --- --- --- C2CD3 26005 broad.mit.edu 37 11 73811642 73811643 + Frame_Shift_Ins INS - - C rs117535770 byFrequency TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr11:73811642_73811643insC ENST00000334126.7 - 15 2885_2886 c.2659_2660insG c.(2659-2661)gcgfs p.A887fs C2CD3_ENST00000313663.7_Frame_Shift_Ins_p.A887fs Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 887 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TGGGCTCCGCACCTTATTCCAA 0.441 12 21 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49428624 49428633 + Frame_Shift_Del DEL GCCCTGAGCC GCCCTGAGCC - TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr12:49428624_49428633delGCCCTGAGCC ENST00000301067.7 - 35 10316_10325 c.10317_10326delGGCTCAGGGC c.(10315-10326)atfs p.MAQG3439fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCCCAATGCTGCCCTGAGCCATCACTTTCT 0.524 14 57 --- --- --- --- IRF2BPL 64207 broad.mit.edu 37 14 77493645 77493647 + In_Frame_Del DEL GCA GCA - rs61991619 TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr14:77493645_77493647delGCA ENST00000238647.3 - 1 1387_1389 c.489_491delTGC c.(487-492)gcg>gc p.AA163del NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 163 Poly-Ala. nucleus p.A164delA(1) endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 CTGTTCCACCgcagcggcggcgg 0.744 2 4 --- --- --- --- PKD1 5310 broad.mit.edu 37 16 2149944 2149944 + Frame_Shift_Del DEL C C - TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr16:2149944delC ENST00000262304.4 - 29 10049 c.9841delG c.(9841-9843)ccfs p.A3281fs PKD1_ENST00000423118.1_Frame_Shift_Del_p.A3281fs NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3281 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CAGCAGGTGGCCCTCTGGATG 0.637 2 4 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTT rs139112308 by1000genomes TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr16:32077916_32077917insTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 3 3 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578222 7578223 + Frame_Shift_Del DEL TC TC - TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr17:7578222_7578223delTC ENST00000420246.2 - 6 758_759 c.626_627delGA c.(625-627)afs p.R209fs TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 209 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (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.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(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) GAAAAGTGTTTCTGTCATCCAA 0.535 111 """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) 17 10 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 4 9 --- --- --- --- CDC25B 994 broad.mit.edu 37 20 3781733 3781735 + In_Frame_Del DEL ACC ACC - TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr20:3781733_3781735delACC ENST00000245960.5 + 7 1395_1397 c.698_700delACC c.(697-702)gtg>g p.DL233del CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_In_Frame_Del_p.DL169del|CDC25B_ENST00000340833.4_In_Frame_Del_p.DL192del|CDC25B_ENST00000439880.2_In_Frame_Del_p.DL219del|CDC25B_ENST00000344256.6_In_Frame_Del_p.DL169del NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 233 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 TCGGCCCCCGACCTGATGGTACA 0.650 13 30 --- --- --- --- MYO18B 84700 broad.mit.edu 37 22 26222374 26222374 + Splice_Site DEL A A - TCGA-V1-A9ZI-01A-11D-A41K-08 TCGA-V1-A9ZI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 462042a6-0a40-476a-9ccd-aa55722888da 6162f308-9e45-4bf7-a192-64a636bd36bd g.chr22:26222374delA ENST00000335473.7 + 14 2945 c.e14-1 MYO18B_ENST00000407587.2_Splice_Site|MYO18B_ENST00000536101.1_Splice_Site NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCTCTTTCCCAGGGCTCAAGA 0.537 44 33 --- --- --- ---