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 SLC9B1 150159 broad.mit.edu 37 4 103822448 103822448 + Silent SNP G G A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr4:103822448G>A ENST00000296422.7 - 12 1515 c.1374C>T c.(1372-1374)tcC>tcT p.S458S SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 458 integral to membrane solute:hydrogen antiporter activity AGTGGGGTGCGGAGACTCTTG 0.428000 15 216 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23066171 23066171 + Missense_Mutation SNP G G A rs138932459 TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr20:23066171G>A ENST00000246006.4 - 1 806 c.659C>T c.(658-660)gCg>gTg p.A220V NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 220 A -> V (in a colorectal cancer sample; somatic mutation). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding p.A220V(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TACATTGGCCGCAGAGGCAAA 0.617000 4 87 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64601218 64601218 + Missense_Mutation SNP G G A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr11:64601218G>A ENST00000342711.5 - 22 2556 c.2557C>T c.(2557-2559)Cgc>Tgc p.R853C NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 853 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 ACCCCCATGCGCAGGCTGCGT 0.687000 3 40 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138857058 138857058 + Silent SNP T T C TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chrX:138857058T>C ENST00000370557.1 - 19 3034 c.2007A>G c.(2005-2007)aaA>aaG p.K669K ATP11C_ENST00000370543.1_Silent_p.K672K|ATP11C_ENST00000327569.3_Silent_p.K672K|ATP11C_ENST00000361648.2_Silent_p.K672K|ATP11C_ENST00000359686.2_Silent_p.K672K|ATP11C_ENST00000460773.1_5'UTR Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 672 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) GCACCCAGACTTTCAGGCCTG 0.483000 5 46 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112022266 112022266 + Missense_Mutation SNP C C A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chrX:112022266C>A ENST00000371959.3 - 10 3115 c.3116G>T c.(3115-3117)cGt>cTt p.R1039L AMOT_ENST00000371962.1_Missense_Mutation_p.R807L|AMOT_ENST00000304758.1_Missense_Mutation_p.R630L|AMOT_ENST00000524145.1_Missense_Mutation_p.R1039L NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 1039 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 TATAGACAAACGATGTGGTCC 0.488000 4 125 1 1 1 1 0 PKHD1 5314 broad.mit.edu 37 6 51747892 51747892 + Splice_Site SNP T T C TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr6:51747892T>C ENST00000371117.3 - 46 7624 c.7350_splice c.e46+1 p.K2450_splice PKHD1_ENST00000340994.4_Splice_Site_p.K2450_splice NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2450 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GGCACTTACCTTGTGGGCAAA 0.388000 12 19 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201524011 201524011 + Missense_Mutation SNP G G A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr2:201524011G>A ENST00000374700.2 + 28 3536 c.3295G>A c.(3295-3297)Gta>Ata p.V1099I AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 1099 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity p.V1099I(1) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CGGTTTGGCAGTAAAGGTAAC 0.498000 4 132 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142658506 142658506 + Missense_Mutation SNP A A C TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr7:142658506A>C ENST00000355265.2 - 3 638 c.164T>G c.(163-165)tTg>tGg p.L55W KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 55 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GAGCAGGCCCAAAATCAGGAT 0.567000 14 12 0 0 1 0 0 CNOT6L 246175 broad.mit.edu 37 4 78665985 78665985 + Missense_Mutation SNP C C T TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr4:78665985C>T ENST00000504123.1 - 7 734 c.604G>A c.(604-606)Gct>Act p.A202T CNOT6L_ENST00000506166.1_Intron|CNOT6L_ENST00000264903.4_Missense_Mutation_p.A202T Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 202 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 TGCCGGGTAGCGTATTTATCA 0.393000 13 13 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120510154 120510154 + Missense_Mutation SNP C C T TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr1:120510154C>T ENST00000256646.2 - 8 1574 c.1355G>A c.(1354-1356)cGt>cAt p.R452H NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 452 EGF-like 11; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CATCTCACAACGAGGTCCTGC 0.498000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 10 111 0 0 1 0 0 EVI2B 2124 broad.mit.edu 37 17 29631309 29631309 + Missense_Mutation SNP A A T TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr17:29631309A>T ENST00000330927.4 - 2 1473 c.1319T>A c.(1318-1320)cTg>cAg p.L440Q EVI2B_ENST00000544462.1_Missense_Mutation_p.L455Q|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.L440Q NM_006495.3 NP_006486.3 P34910 EVI2B_HUMAN ecotropic viral integration site 2B 440 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) TGGAGGTGGCAGGGATTCATT 0.363000 3 64 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98819232 98819232 + Missense_Mutation SNP C C T TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr10:98819232C>T ENST00000266058.4 - 11 1315 c.1070G>A c.(1069-1071)cGc>cAc p.R357H SLIT1_ENST00000371041.3_Missense_Mutation_p.R357H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R357H NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 357 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GTTCAGGGAGCGGAGGCCCTG 0.622000 19 53 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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 34 61 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56435582 56435582 + Nonsense_Mutation SNP G G A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr17:56435582G>A ENST00000584437.1 - 8 3510 c.1555C>T c.(1555-1557)Cga>Tga p.R519* BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R478*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R519*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R519*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R478* Q68DV7 RNF43_HUMAN ring finger protein 43 519 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATGTCCACTCGCTGGGGATCC 0.592000 62 72 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56953384 56953384 + Missense_Mutation SNP T T C TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr19:56953384T>C ENST00000504904.3 - 7 1699 c.980A>G c.(979-981)gAg>gGg p.E327G ZNF667_ENST00000292069.6_Missense_Mutation_p.E327G|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.E455G Q5HYK9 ZN667_HUMAN zinc finger protein 667 327 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) AAAAGGATTCTCTAAATGGTG 0.373000 8 119 0 0 1 0 0 ADRA1B 147 broad.mit.edu 37 5 159344767 159344767 + Missense_Mutation SNP G G T TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr5:159344767G>T ENST00000306675.3 + 1 978 c.855G>T c.(853-855)aaG>aaT p.K285N NM_000679.3 NP_000670.1 P35368 ADA1B_HUMAN adrenoceptor alpha 1B 285 cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) AACTTTTTAAGTTCTCCAGGG 0.498000 43 48 2.61675e-31 2.85464e-31 1 1 0 EPPK1 83481 broad.mit.edu 37 8 144946590 144946590 + Missense_Mutation SNP G G A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr8:144946590G>A ENST00000525985.1 - 2 903 c.832C>T c.(832-834)Cgg>Tgg p.R278W P58107 EPIPL_HUMAN epiplakin 1 278 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGGTAGCGCCGCACCTCGGCA 0.682000 3 20 0 0 1 0 0 MPND 84954 broad.mit.edu 37 19 4357346 4357346 + Missense_Mutation SNP G G A rs61730129 TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr19:4357346G>A ENST00000599840.1 + 9 1128 c.1093G>A c.(1093-1095)Gca>Aca p.A365T MPND_ENST00000262966.8_Missense_Mutation_p.A365T|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.A315T Q8N594 MPND_HUMAN MPN domain containing 365 MPN. peptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GGACATCGACGCACAGATGGA 0.672000 3 48 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76849221 76849221 + Missense_Mutation SNP T T C TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chrX:76849221T>C ENST00000373344.5 - 26 6269 c.6055A>G c.(6055-6057)Aaa>Gaa p.K2019E ATRX_ENST00000395603.3_Missense_Mutation_p.K1981E|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2019 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) AGTACCATTTTCCCAGAATGC 0.363000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 44 9 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3779721 3779721 + Missense_Mutation SNP A A C TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr19:3779721A>C ENST00000310132.6 - 9 1215 c.817T>G c.(817-819)Ttc>Gtc p.F273V MATK_ENST00000585778.1_Missense_Mutation_p.F273V|MATK_ENST00000395040.2_Missense_Mutation_p.F232V|MATK_ENST00000395045.2_Missense_Mutation_p.F274V NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 273 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TCGTCCAGGAAGGCCTGGGCT 0.687000 43 63 0 0 1 0 0 PI3 5266 broad.mit.edu 37 20 43804672 43804672 + Missense_Mutation SNP G G C TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr20:43804672G>C ENST00000243924.3 + 2 297 c.250G>C c.(250-252)Gcc>Ccc p.A84P NM_002638.3 NP_002629.1 P19957 ELAF_HUMAN peptidase inhibitor 3, skin-derived 84 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) GATCCGGTGCGCCATGTTGAA 0.512000 29 55 0 0 1 0 0 MOB3A 126308 broad.mit.edu 37 19 2076843 2076843 + Silent SNP G G A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr19:2076843G>A ENST00000357066.3 - 4 970 c.591C>T c.(589-591)ttC>ttT p.F197F MOB3A_ENST00000592280.1_Silent_p.F197F|MOB3A_ENST00000592143.1_Intron NM_130807.2 NP_570719.1 Q96BX8 MOL2A_HUMAN MOB kinase activator 3A 197 intracellular metal ion binding CGATGAGGCCGAACTCCTTGA 0.622000 22 28 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222828024 222828024 + Missense_Mutation SNP G G A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr1:222828024G>A ENST00000344922.5 + 18 4521 c.4496G>A c.(4495-4497)cGc>cAc p.R1499H MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.R377H|MIA3_ENST00000344441.6_Missense_Mutation_p.R1499H NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1499 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GAAGATGACCGCAACTCACTA 0.448000 3 72 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48211013 48211013 + Silent SNP C C T TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr16:48211013C>T ENST00000394747.1 - 24 3709 c.3360G>A c.(3358-3360)tcG>tcA p.S1120S ABCC11_ENST00000353782.5_Silent_p.S1120S|ABCC11_ENST00000356608.2_Silent_p.S1120S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.S1120S NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1120 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AAGGAGCTTCCGAGACACACA 0.483000 14 27 0 0 1 0 0 SLC30A2 7780 broad.mit.edu 37 1 26371545 26371545 + Missense_Mutation SNP G G A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr1:26371545G>A ENST00000374278.3 - 2 430 c.214C>T c.(214-216)Cgc>Tgc p.R72C SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Missense_Mutation_p.R72C NM_032513.3 NP_115902.1 Q9BRI3 ZNT2_HUMAN solute carrier family 30 (zinc transporter), member 2 72 positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity p.R72C(1) cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) TACAGCTGGCGCTGGGCCTTC 0.532000 91 115 0 0 1 0 0 XCL1 6375 broad.mit.edu 37 1 168550354 168550354 + Missense_Mutation SNP G G A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr1:168550354G>A ENST00000367818.3 + 3 406 c.241G>A c.(241-243)Gtc>Atc p.V81I NM_002995.2 NP_002986.1 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 81 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity kidney(2)|lung(7)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.208) GAGAGACGTGGTCAGGAGCAT 0.483000 21 40 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60879010 60879010 + Silent SNP A A G TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr17:60879010A>G ENST00000544856.2 - 3 465 c.87T>C c.(85-87)taT>taC p.Y29Y MARCH10_ENST00000583600.1_Silent_p.Y29Y|MARCH10_ENST00000311269.5_Silent_p.Y29Y|MARCH10_ENST00000456609.2_Silent_p.Y29Y Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 29 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CAATTACCTGATACTCAGAGT 0.428000 19 137 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848875 73848875 + Missense_Mutation SNP C C T TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr8:73848875C>T ENST00000523207.1 + 3 1873 c.1285C>T c.(1285-1287)Cgc>Tgc p.R429C NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 429 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GGAGCAGAAACGCCAAGAGAA 0.438000 4 56 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 2 4 0.0784 0.08064 1 1 0 ZNF749 388567 broad.mit.edu 37 19 57956845 57956845 + Missense_Mutation SNP A A G TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr19:57956845A>G ENST00000334181.4 + 3 2579 c.2329A>G c.(2329-2331)Agg>Ggg p.R777G AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 777 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TACTGGAAAAAGGCCTTAGTG 0.393000 3 97 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577574 7577574 + Missense_Mutation SNP T T C TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr17:7577574T>C ENST00000420246.2 - 7 839 c.707A>G c.(706-708)tAc>tGc p.Y236C TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 236 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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) GTTACACATGTAGTTGTAGTG 0.572000 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) 66 17 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 9 135 --- --- --- --- SLFN11 91607 broad.mit.edu 37 17 33690253 33690273 + In_Frame_Del DEL GGTCAGCAGGATCCGAGTTTG GGTCAGCAGGATCCGAGTTTG - TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr17:33690253_33690273delGGTCAGCAGGATCCGAGTTTG ENST00000394566.1 - 4 826_846 c.554_574delCAAACTCGGATCCTGCTGACC c.(553-576)cta>c p.PNSDPADL185del SLFN11_ENST00000308377.4_In_Frame_Del_p.PNSDPADL185del NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 185 nucleus ATP binding p.S187S(1) autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGGAAAATTAGGTCAGCAGGATCCGAGTTTGGGTCAGCAGG 0.412 20 134 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 7 50 --- --- --- --- TBC1D17 79735 broad.mit.edu 37 19 50387777 50387777 + Frame_Shift_Del DEL G G - TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr19:50387777delG ENST00000221543.5 + 12 1604 c.1305delG c.(1303-1305)gtfs p.V435fs TBC1D17_ENST00000535102.2_Frame_Shift_Del_p.V402fs NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 435 Rab-GAP TBC. intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) AGAACGAGGTGGATGCTTTCT 0.597 40 113 --- --- --- --- MAPK8IP2 23542 broad.mit.edu 37 22 51044326 51044326 + Frame_Shift_Del DEL C C - TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c74b94d-14f8-4e14-a9ec-da0a310c2da0 1edb908b-2481-4655-bdfc-34ebeba029ae g.chr22:51044326delC ENST00000399908.2 + 6 2006 c.1290delC c.(1288-1290)cafs p.H430fs MAPK8IP2_ENST00000329492.3_Frame_Shift_Del_p.H695fs|MAPK8IP2_ENST00000442429.2_Frame_Shift_Del_p.H418fs|MAPK8IP2_ENST00000341339.4_Frame_Shift_Del_p.H316fs|MAPK8IP2_ENST00000399912.1_Frame_Shift_Del_p.H430fs|MAPK8IP2_ENST00000008876.5_Frame_Shift_Del_p.H401fs NM_016431.3 NP_057515.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 696 Pro-rich. behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGCCCTGCCACCAGGGCAACG 0.682 2 4 --- --- --- ---