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 ZNF92 168374 broad.mit.edu 37 7 64863705 64863705 + Silent SNP A A G TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr7:64863705A>G ENST00000328747.7 + 4 877 c.678A>G c.(676-678)gaA>gaG p.E226E ZNF92_ENST00000357512.2_Silent_p.E194E|ZNF92_ENST00000450302.2_Silent_p.E157E|ZNF92_ENST00000431504.1_Silent_p.E150E NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 226 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) ATACTGGAGAAAAACCCTACA 0.338000 3 61 0 0 1 0 0 DCUN1D2 55208 broad.mit.edu 37 13 114128477 114128477 + Missense_Mutation SNP G G A TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr13:114128477G>A ENST00000332592.3 - 2 117 c.83C>T c.(82-84)aCc>aTc p.T28I DCUN1D2-AS_ENST00000414992.1_RNA|DCUN1D2_ENST00000478244.1_Missense_Mutation_p.T161I|DCUN1D2_ENST00000375399.2_Missense_Mutation_p.T161I Q6PH85 DCNL2_HUMAN DCN1, defective in cullin neddylation 1, domain containing 2 161 UBA-like. breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1) 7 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234) GAAGGTGAAGGTAAACTGATA 0.448000 4 98 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7780627 7780627 + Silent SNP G G A TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr10:7780627G>A ENST00000358415.4 + 16 2167 c.2001G>A c.(1999-2001)ccG>ccA p.P667P ITIH2_ENST00000379587.4_Silent_p.P656P NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 667 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 ATTCCACCCCGTCTTGGGCCA 0.532000 8 58 0 0 1 0 0 BCL2L10 10017 broad.mit.edu 37 15 52402108 52402108 + Missense_Mutation SNP G G A TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr15:52402108G>A ENST00000561198.1 - 2 663 c.622C>T c.(622-624)Cca>Tca p.P208S BCL2L10_ENST00000260442.3_Silent_p.V184V Q9HD36 B2L10_HUMAN BCL2-like 10 (apoptosis facilitator) 0 activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all cancers(107;0.0148) GAAAAGCCTGGACCAGCTGTT 0.438000 4 97 0 0 1 0 0 EFCAB7 84455 broad.mit.edu 37 1 63999252 63999252 + Missense_Mutation SNP C C T TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr1:63999252C>T ENST00000371088.4 + 5 860 c.614C>T c.(613-615)cCa>cTa p.P205L NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 205 calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 GAAAGGGACCCATCACCAGTA 0.378000 5 118 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140182441 140182441 + Silent SNP G G A TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr5:140182441G>A ENST00000522353.2 + 1 1659 c.1659G>A c.(1657-1659)gtG>gtA p.V553V PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.V553V|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTGCAGGTGTTCGTGCTGG 0.682000 17 97 0 0 1 0 0 CBLL1 79872 broad.mit.edu 37 7 107394392 107394392 + Missense_Mutation SNP G G A TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr7:107394392G>A ENST00000440859.2 + 4 802 c.335G>A c.(334-336)tGt>tAt p.C112Y CBLL1_ENST00000222597.2_Missense_Mutation_p.C111Y|CBLL1_ENST00000415884.2_Missense_Mutation_p.C112Y NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 112 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 TGTGACAAGTGTGGATTGCCT 0.299000 5 68 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34606223 34606223 + Silent SNP A A T TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr10:34606223A>T ENST00000374789.3 - 20 3211 c.2886T>A c.(2884-2886)tcT>tcA p.S962S PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000340077.5_Silent_p.S959S|PARD3_ENST00000374790.3_Silent_p.S902S|PARD3_ENST00000346874.4_Silent_p.S962S|PARD3_ENST00000545260.1_Silent_p.S872S|PARD3_ENST00000374776.1_Silent_p.S916S|PARD3_ENST00000374788.3_Silent_p.S959S|PARD3_ENST00000374773.1_Silent_p.S929S|PARD3_ENST00000544292.1_Silent_p.S675S|PARD3_ENST00000350537.4_Silent_p.S916S|PARD3_ENST00000545693.1_Silent_p.S946S|PARD3_ENST00000374794.3_Silent_p.S887S NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 962 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CTGTGGATACAGACTCTCTCC 0.398000 4 40 0 0 1 0 0 CUL2 8453 broad.mit.edu 37 10 35322104 35322104 + Missense_Mutation SNP G G A TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr10:35322104G>A ENST00000374748.1 - 12 1413 c.1100C>T c.(1099-1101)gCg>gTg p.A367V CUL2_ENST00000537177.1_Missense_Mutation_p.A386V|CUL2_ENST00000374746.1_Missense_Mutation_p.A367V|CUL2_ENST00000374742.1_Missense_Mutation_p.A367V|CUL2_ENST00000602371.1_Missense_Mutation_p.A310V|CUL2_ENST00000374751.3_Missense_Mutation_p.A367V|CUL2_ENST00000374749.3_Missense_Mutation_p.A367V Q13617 CUL2_HUMAN cullin 2 367 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 CTTATCCAACGCACTCATAAA 0.323000 4 52 0 0 1 0 0 ENC1 8507 broad.mit.edu 37 5 73932281 73932281 + Silent SNP C C T TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr5:73932281C>T ENST00000302351.4 - 2 1160 c.30G>A c.(28-30)aaG>aaA p.K10K ENC1_ENST00000537006.1_Silent_p.K10K|ENC1_ENST00000510316.1_Intron NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 10 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) TGGCCCTGGACTTGCGGTTCT 0.443000 5 38 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 5 53 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114269985 114269985 + Silent SNP A A G TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr7:114269985A>G ENST00000393500.3 + 11 1117 c.297A>G c.(295-297)caA>caG p.Q99Q FOXP2_ENST00000393498.2_Silent_p.Q154Q|FOXP2_ENST00000393494.2_Silent_p.Q174Q|FOXP2_ENST00000408937.3_Silent_p.Q199Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000350908.4_Silent_p.Q174Q|FOXP2_ENST00000393491.3_Silent_p.Q82Q|FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|FOXP2_ENST00000390668.3_Silent_p.Q198Q O15409 FOXP2_HUMAN forkhead box P2 174 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.Q199Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 aacaacaacaacagcagcaac 0.502000 3 38 0 0 1 0 0 SF3A3 10946 broad.mit.edu 37 1 38444715 38444715 + Silent SNP G G A TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr1:38444715G>A ENST00000373019.4 - 10 1727 c.772C>T c.(772-774)Ctg>Ttg p.L258L SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Silent_p.L205L NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 258 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TCCAAACCCAGAGAAGCCAAC 0.398000 5 63 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr17:7577548C>T ENST00000420246.2 - 7 865 c.733G>A c.(733-735)Ggc>Agc p.G245S TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 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) 5 43 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53242522 53242522 + Missense_Mutation SNP G G A TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr12:53242522G>A ENST00000304620.4 - 1 256 c.193C>T c.(193-195)Cgg>Tgg p.R65W NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 65 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 TCCCCAAACCGCACCCCCAGC 0.637000 4 16 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123725995 123725995 + Silent SNP T T C TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr9:123725995T>C ENST00000223642.1 - 34 4271 c.4242A>G c.(4240-4242)gaA>gaG p.E1414E NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1414 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) CAGATGATGATTCTTCCCTGC 0.363000 11 95 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33581458 33581458 + Splice_Site SNP G G A TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr11:33581458G>A ENST00000321505.4 + 6 3307 c.e6+1 KIAA1549L_ENST00000389726.3_Splice_Site|KIAA1549L_ENST00000265654.5_Splice_Site KIAA1549-like ATTGCTGAACGTGAGTATGGC 0.547000 21 162 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60498514 60498514 + Silent SNP C C T TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr20:60498514C>T ENST00000360469.5 + 10 1468 c.1380C>T c.(1378-1380)gtC>gtT p.V460V CDH4_ENST00000543233.1_Silent_p.V386V NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 460 Cadherin 3. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) TCCAGGCAGTCGACTACGAGC 0.622000 9 70 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 23 0 0 1 0 0 TRBV5-6 0 broad.mit.edu 37 7 142131738 142131739 + RNA INS - - A TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19f982b5-db69-440a-815e-c90a923179c8 4be95b75-954e-4f4a-840e-f9fc6762bfc8 g.chr7:142131738_142131739insA ENST00000390375.2 - 0 90 ATGAGCACAGGGACAGCCTGGA 0.579 7 66 --- --- --- ---