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 KMT2D 8085 broad.mit.edu 37 12 49431213 49431213 + Missense_Mutation SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr12:49431213G>A ENST00000301067.7 - 34 9925 c.9926C>T c.(9925-9927)tCc>tTc p.S3309F NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.S3305fs*20(1)|p.S3035fs*20(1) CTGCTGTTGGGACCCAGCCAA 0.627000 9 5 0 0 1 0 0 HPR 3250 broad.mit.edu 37 16 72110614 72110614 + Silent SNP A A G TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr16:72110614A>G ENST00000540303.2 + 5 713 c.681A>G c.(679-681)ggA>ggG p.G227G HPR_ENST00000356967.5_Silent_p.G227G|HPR_ENST00000228226.8_Silent_p.G264G|HPR_ENST00000561690.1_Intron NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 227 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) CTGGCTGGGGACAAAGTGACA 0.463000 7 133 0 0 1 0 0 IGSF8 93185 broad.mit.edu 37 1 160064985 160064985 + Missense_Mutation SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr1:160064985C>T ENST00000368086.1 - 2 332 c.116G>A c.(115-117)cGc>cAc p.R39H IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.R39H Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 39 Ig-like C2-type 1. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding p.R39L(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GCCAGCCACGCGGTACAAGGG 0.617000 9 36 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068570 9068570 + Silent SNP T T A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr19:9068570T>A ENST00000397910.4 - 3 19079 c.18876A>T c.(18874-18876)acA>acT p.T6292T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6294 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCATTGTGTGTGTATCTGTGG 0.453000 23 128 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057582 9057582 + Missense_Mutation SNP G G C TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr19:9057582G>C ENST00000397910.4 - 3 30067 c.29864C>G c.(29863-29865)aCc>aGc p.T9955S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9957 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTGGTGATGGTCATTTGTGT 0.498000 47 254 0 0 1 0 0 RNF121 55298 broad.mit.edu 37 11 71671806 71671806 + Missense_Mutation SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr11:71671806G>A ENST00000361756.3 + 3 473 c.112G>A c.(112-114)Gca>Aca p.A38T RNF121_ENST00000545854.1_5'UTR|RNF121_ENST00000530137.1_Missense_Mutation_p.A6T|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Missense_Mutation_p.A6T|RNF121_ENST00000393713.3_Missense_Mutation_p.A6T NM_018320.4 NP_060790.2 Q9H920 RN121_HUMAN ring finger protein 121 38 integral to membrane zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1) 13 GGTCGAGCACGCACGCATGCA 0.542000 4 94 0 0 1 0 0 ZNF143 7702 broad.mit.edu 37 11 9499964 9499964 + Missense_Mutation SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr11:9499964C>T ENST00000396602.2 + 6 520 c.401C>T c.(400-402)gCg>gTg p.A134V ZNF143_ENST00000530463.1_Missense_Mutation_p.A133V|ZNF143_ENST00000396597.3_Missense_Mutation_p.A103V|ZNF143_ENST00000299606.2_Missense_Mutation_p.A106V|ZNF143_ENST00000396604.1_Missense_Mutation_p.A133V NM_003442.5 NP_003433.3 P52747 ZN143_HUMAN zinc finger protein 143 134 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) GCATTACAGGCGGTTCAGCTG 0.433000 64 89 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1086051 1086051 + Missense_Mutation SNP C C T rs72655318 TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr11:1086051C>T ENST00000441003.2 + 22 2918 c.2891C>T c.(2890-2892)aCg>aTg p.T964M MUC2_ENST00000359061.5_Missense_Mutation_p.T964M NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 964 VWFD 3. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GAGTCCAGCACGGGCATCATC 0.632000 20 28 0 0 1 0 0 GUF1 60558 broad.mit.edu 37 4 44693681 44693681 + Splice_Site SNP A A G TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr4:44693681A>G ENST00000281543.5 + 13 1673 c.e13-1 GUF1_ENST00000506793.1_Splice_Site NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 TTCCCTTTTTAGGCTCGAAGA 0.299000 8 128 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63487064 63487064 + Missense_Mutation SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr11:63487064G>A ENST00000377819.5 + 3 1244 c.1090G>A c.(1090-1092)Gga>Aga p.G364R RTN3_ENST00000540798.1_Missense_Mutation_p.G252R|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.G345R NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 364 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 AAAAACTACAGGACTTGACAT 0.373000 3 57 0 0 1 0 0 SMARCC1 6599 broad.mit.edu 37 3 47719787 47719787 + Missense_Mutation SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr3:47719787C>T ENST00000254480.5 - 16 1591 c.1472G>A c.(1471-1473)cGa>cAa p.R491Q SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 491 SWIRM. chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) CATAAAATTTCGATATGCCAA 0.388000 8 151 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1251754 1251754 + Missense_Mutation SNP A A G TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr16:1251754A>G ENST00000348261.5 + 9 1552 c.1304A>G c.(1303-1305)gAg>gGg p.E435G CACNA1H_ENST00000565831.1_Missense_Mutation_p.E435G|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E435G NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 435 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CTGATGCGGGAGCAGCGGGCA 0.612000 8 14 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 92 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155261708 155261708 + Missense_Mutation SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr1:155261708C>T ENST00000392414.3 - 10 1477 c.1364G>A c.(1363-1365)cGg>cAg p.R455Q PKLR_ENST00000342741.4_Missense_Mutation_p.R486Q NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 486 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) AGGTCGGTACCGAGACAGAAG 0.577000 16 69 0 0 1 0 0 NKAIN4 128414 broad.mit.edu 37 20 61881306 61881306 + Missense_Mutation SNP C C A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr20:61881306C>A ENST00000370316.3 - 2 262 c.173G>T c.(172-174)cGg>cTg p.R58L NKAIN4_ENST00000370307.2_5'UTR|NKAIN4_ENST00000370313.1_5'UTR NM_152864.3 NP_690603.3 Q8IVV8 NKAI4_HUMAN Na+/K+ transporting ATPase interacting 4 58 integral to membrane|plasma membrane endometrium(2)|lung(1)|ovary(1) 4 all_cancers(38;2.72e-09) ATAGCGCAGCCGGTACTGGAT 0.607000 3 54 1 1 1 1 0 VARS 7407 broad.mit.edu 37 6 31747885 31747885 + Silent SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr6:31747885G>A ENST00000375663.3 - 26 3411 c.2971C>T c.(2971-2973)Ctg>Ttg p.L991L NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 991 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GCCTCTGTCAGGCGGCTGCGG 0.647000 10 57 0 0 1 0 0 FFAR1 2864 broad.mit.edu 37 19 35842815 35842815 + Missense_Mutation SNP T T C TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr19:35842815T>C ENST00000246553.2 + 1 371 c.361T>C c.(361-363)Tgc>Cgc p.C121R NM_005303.2 NP_005294.1 O14842 FFAR1_HUMAN free fatty acid receptor 1 121 energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) CCGGAGGCCGTGCTATTCCTG 0.677000 10 43 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12541141 12541141 + Silent SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr19:12541141C>T ENST00000301547.5 - 4 2042 c.1845G>A c.(1843-1845)ccG>ccA p.P615P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 615 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TACATTCATACGGGTTCTCTC 0.403000 4 66 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55693430 55693430 + Missense_Mutation SNP A A T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr19:55693430A>T ENST00000376350.3 - 19 3174 c.3152T>A c.(3151-3153)tTt>tAt p.F1051Y PTPRH_ENST00000263434.5_Missense_Mutation_p.F873Y NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1051 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CTTCCTTACAAAGCTGAAGGG 0.622000 32 76 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891209 18891209 + Missense_Mutation SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr12:18891209C>T ENST00000317658.3 + 1 165 c.7C>T c.(7-9)Ctt>Ttt p.L3F NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 3 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding p.L3V(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) AAACATGACACTTAGCGTGCT 0.438000 5 85 0 0 1 0 0 ANO8 57719 broad.mit.edu 37 19 17438523 17438523 + Missense_Mutation SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr19:17438523C>T ENST00000159087.4 - 14 2551 c.2393G>A c.(2392-2394)cGc>cAc p.R798H NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 798 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 GCTTTCCACGCGCTGGCCGAA 0.682000 21 36 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153897446 153897446 + Missense_Mutation SNP G G C TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr4:153897446G>C ENST00000511601.1 + 12 3191 c.3003G>C c.(3001-3003)aaG>aaC p.K1001N FHDC1_ENST00000260008.3_Missense_Mutation_p.K1001N Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 1001 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) AGGAAAATAAGACCTGCCGCG 0.632000 4 36 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48945567 48945567 + Missense_Mutation SNP C C A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr19:48945567C>A ENST00000263269.3 + 12 2689 c.2601C>A c.(2599-2601)caC>caA p.H867Q NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 867 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CCTGGGAGCACCTGGTGTACT 0.647000 48 39 1.83081e-24 1.98338e-24 1 1 0 ACVR2A 92 broad.mit.edu 37 2 148653873 148653873 + Missense_Mutation SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr2:148653873C>T ENST00000241416.7 + 2 695 c.59C>T c.(58-60)gCt>gTt p.A20V ACVR2A_ENST00000404590.1_Missense_Mutation_p.A20V|ACVR2A_ENST00000535787.1_Intron NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 20 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) CTTATAGGTGCTATACTTGGT 0.333000 13 64 0 0 1 0 0 CPSF2 53981 broad.mit.edu 37 14 92601779 92601779 + Missense_Mutation SNP A A G TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr14:92601779A>G ENST00000298875.4 + 6 769 c.484A>G c.(484-486)Ata>Gta p.I162V NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 162 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) AATATGGAAAATAGTCAAAGA 0.388000 3 109 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51799071 51799071 + Silent SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr6:51799071G>A ENST00000371117.3 - 37 6233 c.5958C>T c.(5956-5958)caC>caT p.H1986H PKHD1_ENST00000340994.4_Silent_p.H1986H NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1986 G8 1. 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) CAAGGATGGCGTGTGCCCTGA 0.537000 OREG0017491 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 122 0 0 1 0 0 AGBL2 79841 broad.mit.edu 37 11 47726176 47726176 + Missense_Mutation SNP T T C TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr11:47726176T>C ENST00000525123.1 - 7 790 c.505A>G c.(505-507)Att>Gtt p.I169V AGBL2_ENST00000357610.3_Missense_Mutation_p.I169V|AGBL2_ENST00000298861.4_Missense_Mutation_p.I169V|AGBL2_ENST00000528244.1_Missense_Mutation_p.I131V|AGBL2_ENST00000529712.1_5'UTR NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 169 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 GTAGACAAAATGGAAAAGAGC 0.428000 15 61 0 0 1 0 0 AREG 374 broad.mit.edu 37 4 75312475 75312475 + Missense_Mutation SNP T T C TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr4:75312475T>C ENST00000395748.3 + 2 498 c.286T>C c.(286-288)Tat>Cat p.Y96H AREG_ENST00000264487.2_Missense_Mutation_p.Y96H|AREG_ENST00000502307.1_Missense_Mutation_p.Y96H NM_001657.2 NP_001648.1 P15514 AREG_HUMAN amphiregulin 96 cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication cell surface|extracellular space|integral to membrane cytokine activity|growth factor activity lung(4) 4 Lung(101;0.196) AATACCTGGCTATATTGTCGA 0.443000 5 131 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 907741 907741 + Silent SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr1:907741C>T ENST00000379409.2 + 9 1125 c.1095C>T c.(1093-1095)cgC>cgT p.R365R PLEKHN1_ENST00000379407.2_Silent_p.R325R|PLEKHN1_ENST00000379410.3_Silent_p.R313R Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 365 PH 2. central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) TGTGCCTTCGCGCTGTCACCC 0.677000 5 18 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366731 248366731 + Missense_Mutation SNP A A G TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr1:248366731A>G ENST00000456743.1 + 1 400 c.362A>G c.(361-363)gAc>gGc p.D121G NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATGGCTTATGACCGCTACACT 0.463000 20 234 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39763628 39763628 + Missense_Mutation SNP A A C TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr12:39763628A>C ENST00000395670.3 - 3 772 c.353T>G c.(352-354)gTt>gGt p.V118G KIF21A_ENST00000361418.5_Missense_Mutation_p.V118G|KIF21A_ENST00000541463.2_Missense_Mutation_p.V118G|KIF21A_ENST00000544797.2_Missense_Mutation_p.V118G|KIF21A_ENST00000361961.3_Missense_Mutation_p.V118G Q7Z4S6 KI21A_HUMAN kinesin family member 21A 118 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) AAGGTGTTTAACAGCTCGAGA 0.348000 10 38 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201046152 201046152 + Missense_Mutation SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr1:201046152G>A ENST00000362061.3 - 12 1949 c.1723C>T c.(1723-1725)Ctc>Ttc p.L575F CACNA1S_ENST00000367338.3_Missense_Mutation_p.L575F NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 575 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ATGCCCAGGAGGGCGAAGATG 0.567000 7 129 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e 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 36 48 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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) 24 3 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188018 32188018 + Nonsense_Mutation SNP G G T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr6:32188018G>T ENST00000375023.3 - 7 1341 c.1203C>A c.(1201-1203)tgC>tgA p.C401* NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 401 EGF-like 10. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CATCCCCATGGCACGGCTGGC 0.622000 13 76 8.60227e-14 9.19147e-14 1 1 0 TUBGCP6 85378 broad.mit.edu 37 22 50659212 50659212 + Silent SNP A A G rs141527317 TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr22:50659212A>G ENST00000439308.2 - 16 4068 c.3576T>C c.(3574-3576)tcT>tcC p.S1192S TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1192 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGCTGGCATCAGACACGTGTC 0.617000 4 93 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141739804 141739804 + Missense_Mutation SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr2:141739804G>A ENST00000389484.3 - 18 3783 c.2812C>T c.(2812-2814)Cgt>Tgt p.R938C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 938 LDL-receptor class A 5. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGAATGCAACGCCCATTTCCG 0.423000 TSP Lung(27;0.18) 16 85 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12429722 12429722 + Missense_Mutation SNP T T C TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr19:12429722T>C ENST00000293725.5 - 4 1322 c.1117A>G c.(1117-1119)Acg>Gcg p.T373A NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGAGATAACGTTTTCCCACAC 0.413000 4 208 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107823139 107823139 + Splice_Site SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr7:107823139G>A ENST00000379028.3 - 23 3000 c.2530_splice c.e23+1 p.L844_splice NRCAM_ENST00000351718.4_Splice_Site_p.L828_splice|NRCAM_ENST00000425651.2_Splice_Site_p.L844_splice|NRCAM_ENST00000413765.2_Splice_Site_p.L825_splice|NRCAM_ENST00000379022.4_Splice_Site_p.L844_splice|NRCAM_ENST00000379024.4_Splice_Site_p.L825_splice Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 844 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CATCACTTACGGTCTTCTCCA 0.522000 19 35 0 0 1 0 0 FAM169A 26049 broad.mit.edu 37 5 74130350 74130350 + Silent SNP T T G TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr5:74130350T>G ENST00000389156.4 - 5 481 c.391A>C c.(391-393)Aga>Cga p.R131R FAM169A_ENST00000380515.3_Intron|FAM169A_ENST00000510496.1_Silent_p.R131R NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 131 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 ATCTCATTTCTCTCCATTTCC 0.418000 3 50 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214803886 214803886 + Missense_Mutation SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr1:214803886C>T ENST00000366955.3 + 9 1372 c.1204C>T c.(1204-1206)Cgt>Tgt p.R402C NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 402 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.R402S(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GGAGCTCTCCCGTCAACAGCG 0.537000 33 217 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329160 88329160 + Missense_Mutation SNP A A G TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr13:88329160A>G ENST00000325089.6 + 2 1736 c.1517A>G c.(1516-1518)aAc>aGc p.N506S SLITRK5_ENST00000400028.3_Missense_Mutation_p.N265S NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 506 integral to membrane p.N506I(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCGGTCCCAAACCTCCAGCTG 0.532000 31 56 0 0 1 0 0 NCOA7 135112 broad.mit.edu 37 6 126210341 126210341 + Missense_Mutation SNP T T C TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr6:126210341T>C ENST00000368357.3 + 10 1493 c.1141T>C c.(1141-1143)Tcc>Ccc p.S381P NCOA7_ENST00000229634.9_Missense_Mutation_p.S266P|NCOA7_ENST00000392477.2_Missense_Mutation_p.S381P NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 381 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) TAGGGAGACATCCCATGGTTC 0.458000 7 31 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39763607 39763607 + Missense_Mutation SNP A A G TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr12:39763607A>G ENST00000395670.3 - 3 793 c.374T>C c.(373-375)aTt>aCt p.I125T KIF21A_ENST00000361418.5_Missense_Mutation_p.I125T|KIF21A_ENST00000541463.2_Missense_Mutation_p.I125T|KIF21A_ENST00000544797.2_Missense_Mutation_p.I125T|KIF21A_ENST00000361961.3_Missense_Mutation_p.I125T Q7Z4S6 KI21A_HUMAN kinesin family member 21A 125 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TTTTTCTTCAATACTCTTAAA 0.338000 6 23 0 0 1 0 0 NPY1R 0 broad.mit.edu 37 4 164246852 164246852 + Missense_Mutation SNP T T C TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr4:164246852T>C ENST00000296533.2 - 3 1289 c.758A>G c.(757-759)tAc>tGc p.Y253C NPY1R_ENST00000509586.1_Missense_Mutation_p.Y10C NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 253 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ACTGGACCTGTACTTATTGTC 0.368000 11 30 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175716891 175716891 + Missense_Mutation SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr5:175716891C>T ENST00000443967.1 + 4 714 c.307C>T c.(307-309)Cgg>Tgg p.R103W SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000429602.2_Missense_Mutation_p.R122W|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron SUMO-interacting motifs containing 1 GCCTACAGCACGGAGAATCAT 0.522000 13 86 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028134 37028134 + Missense_Mutation SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chrX:37028134C>T ENST00000358047.3 + 1 1703 c.1651C>T c.(1651-1653)Cct>Tct p.P551S NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 551 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCCAGAGCCTCCTGAGACTGG 0.617000 3 63 0 0 1 0 0 ZBTB49 166793 broad.mit.edu 37 4 4304568 4304568 + Silent SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr4:4304568G>A ENST00000337872.4 + 3 1126 c.1005G>A c.(1003-1005)aaG>aaA p.K335K ZBTB49_ENST00000355834.3_Silent_p.K335K|ZBTB49_ENST00000538529.1_5'UTR NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 GTTTGACAAAGAGGTTGGAAT 0.398000 24 30 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244181 56244181 + Missense_Mutation SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr19:56244181G>A ENST00000332836.2 - 2 1043 c.1016C>T c.(1015-1017)aCg>aTg p.T339M NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 339 NACHT. cytoplasm ATP binding p.T339M(2) NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CAACCAGCACGTAAAGGGATT 0.413000 36 29 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 59 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140214183 140214183 + Missense_Mutation SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr5:140214183G>A ENST00000525929.1 + 1 215 c.215G>A c.(214-216)gGg>gAg p.G72E PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G72E|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAATTCCGTGGGGATCTTCTG 0.617000 8 273 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155458449 155458449 + Missense_Mutation SNP T T C TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr6:155458449T>C ENST00000461783.3 + 7 2606 c.1333T>C c.(1333-1335)Tcc>Ccc p.S445P TIAM2_ENST00000318981.5_Missense_Mutation_p.S445P|TIAM2_ENST00000360366.4_Missense_Mutation_p.S445P|TIAM2_ENST00000529824.2_Missense_Mutation_p.S445P|TIAM2_ENST00000456144.1_Missense_Mutation_p.S445P|TIAM2_ENST00000367174.2_5'UTR Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 445 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GAGAAGTGAATCCACACATGC 0.498000 4 124 0 0 1 0 0 BIRC2 329 broad.mit.edu 37 11 102221141 102221141 + Missense_Mutation SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr11:102221141G>A ENST00000227758.2 + 2 1955 c.556G>A c.(556-558)Gcc>Acc p.A186T BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.A137T|BIRC2_ENST00000532672.1_Missense_Mutation_p.A165T NM_001166.4|NM_001256163.1 NP_001157.1|NP_001243092.1 Q13490 BIRC2_HUMAN baculoviral IAP repeat containing 2 186 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) TACTGAAGAAGCCAGATTTCT 0.413000 4 108 0 0 1 0 0 SRMS 6725 broad.mit.edu 37 20 62178604 62178604 + Silent SNP A A G TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr20:62178604A>G ENST00000217188.1 - 1 253 c.213T>C c.(211-213)agT>agC p.S71S NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 71 SH3. ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) CGCGGCGGACACTCAGCTCCC 0.697000 7 7 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195508343 195508343 + Missense_Mutation SNP A A T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr3:195508343A>T ENST00000463781.3 - 2 10567 c.10108T>A c.(10108-10110)Tcc>Acc p.S3370T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S3370T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 147 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCACCTGTGGAAGCTGAGGAA 0.587000 4 13 0 0 1 0 0 KRT18P55 0 broad.mit.edu 37 17 26604406 26604406 + RNA SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr17:26604406C>T ENST00000577198.1 - 0 555 NR_028334.1 CAGGTTTTGACGGCCAATTTT 0.438000 6 72 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70451205 70451205 + Silent SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr10:70451205C>T ENST00000373644.4 + 12 6254 c.6045C>T c.(6043-6045)caC>caT p.H2015H NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 2015 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CACCTGCTCACGGCTCGGTTT 0.532000 81 138 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167870982 167870982 + Silent SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr1:167870982C>T ENST00000367848.1 - 5 575 c.78G>A c.(76-78)gtG>gtA p.V26V ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367851.4_Silent_p.V118V Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 118 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 ATTTAATTACCACTGTGATAA 0.498000 11 221 0 0 1 0 0 SLC10A6 345274 broad.mit.edu 37 4 87770048 87770048 + Missense_Mutation SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr4:87770048C>T ENST00000273905.6 - 1 368 c.221G>A c.(220-222)tGc>tAc p.C74Y SLC10A6_ENST00000505535.1_5'UTR NM_197965.2 NP_932069.1 Q3KNW5 SOAT_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 6 74 integral to membrane|plasma membrane bile acid:sodium symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 9 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) CCCAAACTGGCAGAGCAGTCC 0.542000 6 34 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 35 0 0 1 0 0 BMP4 652 broad.mit.edu 37 14 54416985 54416985 + Missense_Mutation SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr14:54416985C>T ENST00000245451.4 - 4 1385 c.992G>A c.(991-993)gGc>gAc p.G331D BMP4_ENST00000417573.1_Missense_Mutation_p.G331D|BMP4_ENST00000558984.1_Missense_Mutation_p.G331D|BMP4_ENST00000559087.1_Missense_Mutation_p.G331D NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 331 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 GGCCTGGTAGCCTGGTGGGGC 0.572000 9 59 0 0 1 0 0 IL18 3606 broad.mit.edu 37 11 112025712 112025712 + Missense_Mutation SNP G G A rs61734549 by1000genomes TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr11:112025712G>A ENST00000280357.7 - 2 284 c.65C>T c.(64-66)aCg>aTg p.T22M IL18_ENST00000524595.1_Missense_Mutation_p.T22M|IL18_ENST00000528832.1_Missense_Mutation_p.T22M|IL18_ENST00000533858.1_5'UTR|SDHD_ENST00000532699.1_Intron NM_001562.3 NP_001553.1 Q14116 IL18_HUMAN interleukin 18 (interferon-gamma-inducing factor) 22 angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response cytosol|extracellular space cytokine activity|signal transducer activity all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055) AAAGTAAAGCGTATTGTCAAT 0.343000 9 30 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128432468 128432468 + Missense_Mutation SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr7:128432468G>A ENST00000464832.1 + 2 197 c.153G>A c.(151-153)atG>atA p.M51I CCDC136_ENST00000487361.1_Start_Codon_SNP_p.M1I|CCDC136_ENST00000378685.4_Missense_Mutation_p.M51I|CCDC136_ENST00000297788.4_Start_Codon_SNP_p.M1I Q96JN2 CC136_HUMAN coiled-coil domain containing 136 1 Glu-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GACGGGGGATGCAAGCTATGG 0.582000 15 62 0 0 1 0 0 KLHL30 377007 broad.mit.edu 37 2 239050040 239050040 + Silent SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr2:239050040G>A ENST00000409223.1 + 2 752 c.645G>A c.(643-645)ctG>ctA p.L215L KLHL30_ENST00000305959.4_Silent_p.L197L Q0D2K2 KLH30_HUMAN kelch-like family member 30 215 BACK. lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CCGCCCACCTGCCCGAGCTGC 0.706000 3 8 0 0 1 0 0 KNG1 3827 broad.mit.edu 37 3 186450325 186450325 + Silent SNP C C T TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr3:186450325C>T ENST00000265023.4 + 7 1004 c.792C>T c.(790-792)tgC>tgT p.C264C RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Silent_p.C228C|KNG1_ENST00000287611.2_Silent_p.C264C NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 264 Cystatin 3. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) CCAAGATTTGCGTGGGCTGCC 0.488000 4 144 0 0 1 0 0 WDR26 80232 broad.mit.edu 37 1 224621758 224621760 + In_Frame_Del DEL CCG CCG - TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr1:224621758_224621760delCCG ENST00000414423.2 - 1 241_243 c.48_50delCGG c.(46-51)ggt>gg p.GG24del WDR26_ENST00000366852.2_In_Frame_Del_p.GG24del|WDR26_ENST00000295024.6_5'UTR NM_001115113.2|NM_025160.6 NP_001108585.2|NP_079436.4 Q9H7D7 WDR26_HUMAN WD repeat domain 26 24 cytoplasm|nucleus biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 18 GBM - Glioblastoma multiforme(131;0.0104) tcctcctccaccgccgccgccgc 0.729 2 4 --- --- --- --- VPS37C 55048 broad.mit.edu 37 11 60899568 60899569 + Frame_Shift_Del DEL CC CC - TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr11:60899568_60899569delCC ENST00000301765.5 - 5 1023_1024 c.791_792delGG c.(790-792)afs p.R264fs NM_017966.4 NP_060436.4 A5D8V6 VP37C_HUMAN vacuolar protein sorting 37 homolog C (S. cerevisiae) 264 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GTGGCATGCTCCTCTGTGGGGA 0.693 2 4 --- --- --- --- DGKH 160851 broad.mit.edu 37 13 42783569 42783569 + Frame_Shift_Del DEL A A - TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr13:42783569delA ENST00000379274.2 + 23 2839 c.2410delA c.(2410-2412)aafs p.K804fs DGKH_ENST00000536612.1_Frame_Shift_Del_p.K804fs|DGKH_ENST00000540693.1_Frame_Shift_Del_p.K940fs|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Frame_Shift_Del_p.K940fs|DGKH_ENST00000337343.4_Frame_Shift_Del_p.K940fs|DGKH_ENST00000538674.1_Frame_Shift_Del_p.K695fs Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 940 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) AATTGTGCACAAAAACAGAGC 0.378 40 50 --- --- --- --- ZIC5 85416 broad.mit.edu 37 13 100623411 100623413 + In_Frame_Del DEL AGG AGG - TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr13:100623411_100623413delAGG ENST00000267294.4 - 1 750_752 c.517_519delCCT c.(517-519)del p.P173del NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 173 Pro-rich. cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCGAGAGGGCaggaggaggagga 0.744 2 4 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72994030 72994031 + Frame_Shift_Ins INS - - TCACAGCC rs12922701 TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr16:72994030_72994031insTCACAGCC ENST00000268489.5 - 2 686_687 c.14_15insGGCTGTGA c.(13-15)gtcfs p.V5fs ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 5 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CGACGGGCGAGTCACAGCCTTC 0.609 21 167 --- --- --- --- AC012313.1 0 broad.mit.edu 37 19 58907569 58907571 + In_Frame_Del DEL AGG AGG - TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chr19:58907569_58907571delAGG ENST00000601382.1 + 1 113_115 c.113_115delAGG c.(112-117)cag>c p.38del NM_001195135.1 NP_001182064.1 GGGGAAGACCaggaggaggagga 0.724 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76855040 76855046 + Frame_Shift_Del DEL TTTCTTC TTTCTTC - TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69986481-decd-42b7-9286-6850f1956764 667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e g.chrX:76855040_76855046delTTTCTTC ENST00000373344.5 - 25 6004_6010 c.5790_5796delGAAGAAA c.(5788-5796)aafs p.KKK1930fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KKK1892fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1930 Poly-Lys. 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) TTTTCCCTTTTTTCTTCTTTCTaaaaa 0.353 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 63 73 --- --- --- ---