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 ATM 472 broad.mit.edu 37 11 108124759 108124759 + Nonsense_Mutation SNP C C A TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr11:108124759C>A ENST00000278616.4 + 13 2502 c.2117C>A c.(2116-2118)tCa>tAa p.S706* ATM_ENST00000452508.2_Nonsense_Mutation_p.S706* NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 706 YSS -> FIP (in AT; might be associated with susceptibility to cancer). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AATAATTACTCATCTGAGGTG 0.393000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 32 51 8.88839e-20 9.53876e-20 1 1 0 RIPK4 54101 broad.mit.edu 37 21 43166847 43166847 + Missense_Mutation SNP C C T TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr21:43166847C>T ENST00000352483.2 - 5 822 c.758G>A c.(757-759)cGc>cAc p.R253H RIPK4_ENST00000544709.1_Missense_Mutation_p.R190H|RIPK4_ENST00000332512.3_Missense_Mutation_p.R253H|RIPK4_ENST00000542057.1_Missense_Mutation_p.R190H Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 253 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GCTGCAGGCGCGCGGCCGGGC 0.667000 36 54 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57998056 57998056 + Missense_Mutation SNP C C T TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr16:57998056C>T ENST00000564448.1 - 4 328 c.268G>A c.(268-270)Gct>Act p.A90T CNGB1_ENST00000251102.8_Missense_Mutation_p.A90T|CNGB1_ENST00000311183.4_Missense_Mutation_p.A90T Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 90 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GAAATCTCAGCGCCCTGGGCC 0.587000 10 10 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65226641 65226641 + RNA SNP G G T TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr7:65226641G>T ENST00000442266.1 + 0 1167 AGGTTCTTGCGCAGAATTCTG 0.383000 3 25 0.00024832 0.00024832 1 1 0 MOG 4340 broad.mit.edu 37 6 29638125 29638125 + Silent SNP C C T TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr6:29638125C>T ENST00000376894.4 + 6 778 c.660C>T c.(658-660)ccC>ccT p.P220P MOG_ENST00000376888.2_Silent_p.P104P|MOG_ENST00000376898.3_Silent_p.P220P|MOG_ENST00000376917.3_Silent_p.P220P|MOG_ENST00000483013.1_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000416766.2_Silent_p.P182P|MOG_ENST00000396701.2_Intron|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000396704.3_Intron|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000494692.1_Intron|MOG_ENST00000490427.1_Intron Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 220 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 TTCTTGGACCCTTGGTTGCCT 0.512000 4 81 0 0 1 0 0 SNX27 81609 broad.mit.edu 37 1 151641080 151641080 + Missense_Mutation SNP A A G rs149636067 TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr1:151641080A>G ENST00000368843.3 + 7 1238 c.1118A>G c.(1117-1119)aAt>aGt p.N373S SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368838.1_Missense_Mutation_p.N280S|SNX27_ENST00000458013.2_Missense_Mutation_p.N373S NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 373 cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding p.N373S(1) central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TTAAATGACAATGACCTTGCT 0.363000 32 51 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52760836 52760836 + Silent SNP G G A TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr12:52760836G>A ENST00000257901.3 - 1 429 c.354C>T c.(352-354)tgC>tgT p.C118C NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 118 Head. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CCTGCTTCACGCACTGTGCGT 0.632000 55 114 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262103 39262103 + Missense_Mutation SNP A A T TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr17:39262103A>T ENST00000391415.1 + 1 520 c.463A>T c.(463-465)Agc>Tgc p.S155C NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 155 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 ccccagctgcagcatctccag 0.672000 3 16 0 0 1 0 0 POT1 25913 broad.mit.edu 37 7 124503468 124503468 + Missense_Mutation SNP T T A TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr7:124503468T>A ENST00000357628.3 - 8 1080 c.482A>T c.(481-483)tAt>tTt p.Y161F POT1_ENST00000393329.1_Missense_Mutation_p.Y30F NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 161 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 CAGGTCAAAATACTGCATTGG 0.403000 46 70 0 0 1 0 0 B4GALT3 8703 broad.mit.edu 37 1 161143660 161143660 + Silent SNP C C T TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr1:161143660C>T ENST00000319769.5 - 5 891 c.669G>A c.(667-669)aaG>aaA p.K223K B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Silent_p.K223K NM_001199873.1|NM_003779.3 NP_001186802.1|NP_003770.1 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 223 K -> S (in Ref. 2; AAC39734). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) TGTATCCAAACTTGTTCATAG 0.537000 7 52 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152286320 152286320 + Missense_Mutation SNP G G A TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr1:152286320G>A ENST00000368799.1 - 3 1077 c.1042C>T c.(1042-1044)Cac>Tac p.H348Y FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 348 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGCAGAGTGCCCATGACTG 0.557000 Ichthyosis 10 390 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1080421 1080421 + Missense_Mutation SNP C C T TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr19:1080421C>T ENST00000536472.1 + 13 1629 c.1391C>T c.(1390-1392)gCg>gTg p.A464V HMHA1_ENST00000313093.2_Intron|HMHA1_ENST00000590214.1_Intron|HMHA1_ENST00000539243.2_Intron|HMHA1_ENST00000543365.1_Intron|HMHA1_ENST00000586866.1_Intron|HMHA1_ENST00000590577.1_Intron Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 609 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGCTCCCTGCGACCCACCCT 0.677000 22 37 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190864382 190864382 + Nonsense_Mutation SNP A A T TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr4:190864382A>T ENST00000226798.4 + 2 310 c.88A>T c.(88-90)Aaa>Taa p.K30* FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 30 Lys-rich. rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) caaagataagaaaagaaaaag 0.303000 3 45 0 0 1 0 0 CYP2C18 1562 broad.mit.edu 37 10 96480296 96480296 + Splice_Site SNP T T C TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr10:96480296T>C ENST00000285979.6 + 6 1160 c.e6+2 CYP2C19_ENST00000464755.1_Splice_Site|CYP2C18_ENST00000339022.5_Splice_Site NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) AGGTCACAGGTATGATGATAC 0.448000 35 43 0 0 1 0 0 KRT33B 3884 broad.mit.edu 37 17 39521493 39521493 + Silent SNP C C T TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr17:39521493C>T ENST00000251646.3 - 5 859 c.810G>A c.(808-810)gcG>gcA p.A270A NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 270 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) CGATGATCTCCGCCTGGTAGG 0.587000 45 54 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38274849 38274849 + Missense_Mutation SNP G G T TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr8:38274849G>T ENST00000447712.2 - 12 2579 c.1638C>A c.(1636-1638)aaC>aaA p.N546K FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 546 Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.N546K(4) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) CCCCCAGCAGGTTGATGATAT 0.542000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 41 51 9.39024e-22 1.05941e-21 1 1 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 34 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74332990 74332990 + Missense_Mutation SNP C C T rs140238648 TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr9:74332990C>T ENST00000377044.4 - 13 2812 c.2273G>A c.(2272-2274)cGa>cAa p.R758Q TMEM2_ENST00000377066.5_Missense_Mutation_p.R695Q NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 758 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) CTGATGAGGTCGAAATCTAGG 0.338000 29 50 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906505 164906505 + Missense_Mutation SNP C C T TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr3:164906505C>T ENST00000475390.1 - 2 2557 c.2114G>A c.(2113-2115)tGc>tAc p.C705Y SLITRK3_ENST00000241274.3_Missense_Mutation_p.C705Y O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 705 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CAGCCTGTGGCATTGCATTTG 0.592000 HNSCC(40;0.11) 33 31 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 25 57 0 0 1 0 0 POT1 25913 broad.mit.edu 37 7 124503470 124503470 + Missense_Mutation SNP C C A TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr7:124503470C>A ENST00000357628.3 - 8 1078 c.480G>T c.(478-480)caG>caT p.Q160H POT1_ENST00000393329.1_Missense_Mutation_p.Q29H NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 160 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 GGTCAAAATACTGCATTGGCT 0.398000 45 69 1.00776e-21 1.10853e-21 1 1 0 CPAMD8 27151 broad.mit.edu 37 19 17085906 17085906 + Missense_Mutation SNP C C T TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr19:17085906C>T ENST00000388925.4 - 13 1601 c.1429G>A c.(1429-1431)Gta>Ata p.V477I CPAMD8_ENST00000443236.1_Splice_Site Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 0 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCTCTCCTTACGGTGAAGGCA 0.547000 7 7 0 0 1 0 0 TSKU 25987 broad.mit.edu 37 11 76507258 76507258 + Missense_Mutation SNP C C G TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr11:76507258C>G ENST00000527881.1 + 2 1624 c.598C>G c.(598-600)Ccc>Gcc p.P200A TSKU_ENST00000333090.4_Missense_Mutation_p.P200A Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 200 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) CCATGCCGTGCCCAACCTCCG 0.667000 34 43 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7967043 7967043 + Missense_Mutation SNP G G A TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr12:7967043G>A ENST00000543909.1 - 16 2191 c.1432C>T c.(1432-1434)Cgt>Tgt p.R478C SLC2A14_ENST00000542546.1_Missense_Mutation_p.R369C|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R369C|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R493C|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R455C|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R119C|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R455C|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R478C Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 478 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) GTCCTGCCACGGGTCTCAGGG 0.498000 30 51 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669989 24669989 + Silent SNP A A G TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr10:24669989A>G ENST00000376454.3 + 3 576 c.546A>G c.(544-546)agA>agG p.R182R KIAA1217_ENST00000376452.3_Silent_p.R182R|KIAA1217_ENST00000376462.1_Silent_p.R102R|KIAA1217_ENST00000430453.2_Silent_p.R103R|KIAA1217_ENST00000458595.1_Silent_p.R182R NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 182 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CGAAAGAAAGATCTCTGGGTA 0.468000 17 33 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 103866968 103866968 + Missense_Mutation SNP T T C TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr11:103866968T>C ENST00000302251.5 - 3 768 c.317A>G c.(316-318)gAt>gGt p.D106G PDGFD_ENST00000393158.2_Missense_Mutation_p.D112G NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 112 CUB. positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) TTCCACAAAATCATACCTAGA 0.328000 11 46 0 0 1 0 0 RP11-152F13.10 0 broad.mit.edu 37 15 83218295 83218295 + Missense_Mutation SNP A A G TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr15:83218295A>G ENST00000562833.1 - 5 517 c.518T>C c.(517-519)cTg>cCg p.L173P CPEB1_ENST00000568757.1_Silent_p.A363A|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Silent_p.A438A|CPEB1_ENST00000562019.1_Silent_p.A443A|CPEB1_ENST00000450751.2_Silent_p.A363A|CPEB1_ENST00000398591.2_Silent_p.A368A|CPEB1_ENST00000398592.2_Silent_p.A212A|CPEB1_ENST00000261723.6_Silent_p.A441A|CPEB1_ENST00000423133.2_Silent_p.A363A|CPEB1_ENST00000564522.1_Silent_p.A363A|CPEB1_ENST00000563800.1_Silent_p.A465A CCAGGGCCTCAGCATTTAGCA 0.527000 27 29 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11129635 11129635 + Missense_Mutation SNP C C A TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr19:11129635C>A ENST00000358026.2 + 17 2725 c.2441C>A c.(2440-2442)aCg>aAg p.T814K SMARCA4_ENST00000590574.1_Missense_Mutation_p.T814K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T814K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T814K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T814K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T814K NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 814 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1)|p.T814K(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TCCATCAGAACGCTGTCCAAC 0.547000 """F, N, Mis""" NSCLC 39 58 9.73076e-26 1.12672e-25 1 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 51 0 0 1 0 0 FOXI1 2299 broad.mit.edu 37 5 169533529 169533529 + Missense_Mutation SNP G G A TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr5:169533529G>A ENST00000449804.2 + 1 613 c.568G>A c.(568-570)Gac>Aac p.D190N FOXI1_ENST00000306268.6_Missense_Mutation_p.D190N NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 190 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGACGAGGACGACCCGGGTAA 0.582000 Pendred syndrome 6 17 0 0 1 0 0 SLC2A3 6515 broad.mit.edu 37 12 8074140 8074140 + Missense_Mutation SNP G G A TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr12:8074140G>A ENST00000075120.7 - 10 1600 c.1360C>T c.(1360-1362)Cgt>Tgt p.R454C NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 454 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) GTCCTGCCACGGGTCTCAGGG 0.488000 14 125 0 0 1 0 0 DAB2 1601 broad.mit.edu 37 5 39394362 39394362 + Missense_Mutation SNP T T C TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr5:39394362T>C ENST00000320816.6 - 2 528 c.61A>G c.(61-63)Aaa>Gaa p.K21E DAB2_ENST00000509337.1_Missense_Mutation_p.K21E|DAB2_ENST00000339788.6_Missense_Mutation_p.K21E|DAB2_ENST00000545653.1_Missense_Mutation_p.K21E NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 21 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GAGGGTGCTTTTGGTGCGGCC 0.488000 31 31 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 37 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 368051 368051 + Missense_Mutation SNP C C A TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr9:368051C>A ENST00000432829.2 + 15 1825 c.1509C>A c.(1507-1509)aaC>aaA p.N503K DOCK8_ENST00000382329.1_5'UTR|DOCK8_ENST00000469391.1_Missense_Mutation_p.N503K|DOCK8_ENST00000453981.1_Missense_Mutation_p.N571K|DOCK8_ENST00000382331.1_5'UTR NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 571 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AGAGGCTGAACTTTGTAAACA 0.393000 6 69 1.06961e-07 1.12055e-07 1 1 0 H1FOO 132243 broad.mit.edu 37 3 129268107 129268108 + Frame_Shift_Ins INS - - A rs150160917 by1000genomes TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr3:129268107_129268108insA ENST00000324382.2 + 3 647_648 c.642_643insA c.(640-645)gcggaafs p.E215fs H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 215 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 CGGGAGAGGCTAGGAAGGTGCC 0.653 2 4 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 37046252 37046258 + Frame_Shift_Del DEL TACAAAA TACAAAA - rs138404850 TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr5:37046252_37046258delTACAAAA ENST00000282516.8 + 38 7039_7045 c.6540_6546delTACAAAA c.(6538-6546)ttfs p.FTK2180fs NIPBL_ENST00000448238.2_Frame_Shift_Del_p.FTK2180fs NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2180 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TGATGTATTTTACAAAACACTCAGATG 0.290 19 40 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174142 13174147 + RNA DEL AACAAC AACAAC - rs113537246 TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr12:13174142_13174147delAACAAC ENST00000543321.1 + 0 1025 ctgtctcaaaaacaacaacaacaaca 0.553 5 6 --- --- --- --- KRT1 3848 broad.mit.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - rs66529359 by1000genomes TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA ENST00000252244.3 - 9 1714_1734 c.1656_1676delTGGCTCCGGAGGTAGCAGCTA c.(1654-1677)tac>ta p.YGSGGSSY552del NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 552 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.S557_G563delSSYGSGG(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 tccggagccgtagctgctacctccggagccatagctgccac 0.688 6 7 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 3 --- --- --- --- AMZ2P1 0 broad.mit.edu 37 17 62969193 62969193 + RNA DEL A A - TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr17:62969193delA ENST00000430983.1 - 0 1290 NR_026903.1 GATATGAATTAAAAAAAAATG 0.328 3 6 --- --- --- --- DDX17 10521 broad.mit.edu 37 22 38901984 38901984 + Frame_Shift_Del DEL C C - TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chr22:38901984delC ENST00000396821.3 - 1 358 c.259delG c.(259-261)acfs p.D87fs DDX17_ENST00000381633.3_Frame_Shift_Del_p.D8fs|DDX17_ENST00000432525.1_Intron NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 8 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) CGGTCCCGGTCCCCAAAGCCT 0.701 2 4 --- --- --- --- FTX 0 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-F6-A8O3-01A-11D-A36O-08 TCGA-F6-A8O3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9127a4d-9030-4ff4-b605-9cb68fdcc1ea e475d10e-c3d2-43dc-908b-d35a537c9f10 g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 3 5 --- --- --- ---