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 CBS 875 broad.mit.edu 37 21 44486353 44486353 + Splice_Site SNP C C T TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr21:44486353C>T ENST00000398165.3 - 5 710 c.451_splice c.e5+1 p.G151_splice CBS_ENST00000398158.1_Splice_Site_p.G151_splice|CBS_ENST00000352178.5_Splice_Site_p.G151_splice|CBS_ENST00000359624.3_Splice_Site_p.G151_splice|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000398168.1_Splice_Site_p.G151_splice|CBS_ENST00000544202.1_Splice_Site_p.G63_splice NM_000071.2 NP_000062.1 P35520 CBS_HUMAN cystathionine-beta-synthase 151 G -> R (in CBSD).|Missing (in CBSD). cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) TGGCACCCACCGGTGTTCCCG 0.687000 4 68 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (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; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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) 25 47 0 0 1 0 0 GEM 2669 broad.mit.edu 37 8 95272441 95272441 + Silent SNP A A G TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr8:95272441A>G ENST00000297596.2 - 2 555 c.291T>C c.(289-291)ggT>ggC p.G97G GEM_ENST00000396194.2_Silent_p.G97G NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 97 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) TGTCATGCACACCTGCAAAGA 0.592000 28 56 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 4 47 0 0 1 0 0 RP11-564D11.3 0 broad.mit.edu 37 10 124647982 124647982 + RNA SNP A A G TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr10:124647982A>G ENST00000425266.1 + 0 34 GCACACAGGCATCTAGTGGAG 0.388000 5 11 0 0 1 0 0 CIZ1 25792 broad.mit.edu 37 9 130952718 130952718 + Missense_Mutation SNP A A G TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr9:130952718A>G ENST00000538431.1 - 3 423 c.176T>C c.(175-177)cTc>cCc p.L59P CIZ1_ENST00000277465.4_Missense_Mutation_p.L59P|CIZ1_ENST00000541172.1_Intron|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000393608.1_Missense_Mutation_p.L59P|CIZ1_ENST00000372954.1_Missense_Mutation_p.L59P|CIZ1_ENST00000372938.5_Missense_Mutation_p.L59P|CIZ1_ENST00000357558.5_Missense_Mutation_p.L59P|CIZ1_ENST00000372948.3_Missense_Mutation_p.L59P|CIZ1_ENST00000325721.8_Missense_Mutation_p.L59P NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 59 nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 CTGCGGGGGGAGCCCCCTGTG 0.582000 7 18 0 0 1 0 0 WRAP73 49856 broad.mit.edu 37 1 3551833 3551833 + Missense_Mutation SNP T T C TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr1:3551833T>C ENST00000378322.3 - 7 687 c.629A>G c.(628-630)gAt>gGt p.D210G WRAP73_ENST00000270708.7_Missense_Mutation_p.D210G Q9P2S5 WRP73_HUMAN WD repeat containing, antisense to TP73 210 centrosome protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1) 12 CAACCGGCCATCCAATGAGTA 0.542000 56 51 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117663696 117663696 + Missense_Mutation SNP G G C TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr6:117663696G>C ENST00000368508.3 - 28 4734 c.4536C>G c.(4534-4536)gaC>gaG p.D1512E GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D1506E NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1512 Fibronectin type-III 6. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GAGCTATACTGTCCTGAAATT 0.259000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 13 21 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80732944 80732944 + Silent SNP T T C TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr12:80732944T>C ENST00000458043.2 + 42 4929 c.4923T>C c.(4921-4923)acT>acC p.T1641T OTOGL_ENST00000547103.1_Silent_p.T1629T NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TAATTACTACTCCAGCTGGAC 0.398000 4 128 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58955472 58955472 + Missense_Mutation SNP T T G TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr14:58955472T>G ENST00000423743.3 + 25 3787 c.3529T>G c.(3529-3531)Tct>Gct p.S1177A KIAA0586_ENST00000261244.5_Missense_Mutation_p.S1145A|KIAA0586_ENST00000556134.1_Missense_Mutation_p.S1206A|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S1274A NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 1145 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GATGCCAGGTTCTGATTCATC 0.488000 3 62 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4222733 4222733 + Missense_Mutation SNP G G A TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr19:4222733G>A ENST00000600132.1 + 20 3514 c.3238G>A c.(3238-3240)Gcc>Acc p.A1080T ANKRD24_ENST00000262970.5_Missense_Mutation_p.A1170T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A1080T NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1080 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) GGCCGCCCTCGCCACCCCTGA 0.592000 4 16 0 0 1 0 0 TBX22 50945 broad.mit.edu 37 X 79286146 79286146 + Missense_Mutation SNP G G A TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chrX:79286146G>A ENST00000442340.1 + 9 1229 c.739G>A c.(739-741)Gtc>Atc p.V247I TBX22_ENST00000373294.5_Missense_Mutation_p.V367I|TBX22_ENST00000373291.1_Missense_Mutation_p.V247I|TBX22_ENST00000373296.3_Missense_Mutation_p.V367I NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 367 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CCTGCCCAATGTCAACCTGCC 0.448000 73 12 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112605177 112605177 + Nonsense_Mutation SNP G G A TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr12:112605177G>A ENST00000550722.1 - 72 12435 c.12040C>T c.(12040-12042)Caa>Taa p.Q4014* HECTD4_ENST00000430131.2_Nonsense_Mutation_p.Q3738*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.Q3988* NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGCAGGTCTTGCTCAGGGTCC 0.617000 64 81 0 0 1 0 0 MGARP 84709 broad.mit.edu 37 4 140188136 140188136 + Missense_Mutation SNP T T C TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr4:140188136T>C ENST00000398955.1 - 4 519 c.340A>G c.(340-342)Ata>Gta p.I114V NM_032623.3 NP_116012.2 Q8TDB4 CD049_HUMAN mitochondria-localized glutamic acid-rich protein 114 integral to membrane GCTTCCACTATAAGTTCTTCT 0.438000 27 241 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038985 11038985 + RNA SNP G G T TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr21:11038985G>T ENST00000470054.1 - 0 1218 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TAACTTTATAGATTTGCCTCC 0.403000 40 434 5.20837e-25 5.80023e-25 1 1 0 LRRC52 440699 broad.mit.edu 37 1 165532816 165532816 + Nonsense_Mutation SNP C C T TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr1:165532816C>T ENST00000294818.1 + 2 987 c.697C>T c.(697-699)Cga>Tga p.R233* RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA NM_001005214.3 NP_001005214.2 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 233 LRRCT. integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) GAACCCACTCCGATACATGTG 0.567000 15 34 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G C rs121913499 TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr2:209113113G>C ENST00000415913.1 - 4 775 c.394C>G c.(394-396)Cgt>Ggt p.R132G IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G 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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 53 58 0 0 1 0 0 POGLUT1 56983 broad.mit.edu 37 3 119196233 119196233 + Nonsense_Mutation SNP C C T rs140695299 by1000genomes TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr3:119196233C>T ENST00000295588.4 + 4 478 c.394C>T c.(394-396)Cga>Tga p.R132* NM_152305.2 NP_689518.1 Q8NBL1 PGLT1_HUMAN protein O-glucosyltransferase 1 132 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 GATCAATGTACGAGATTATCC 0.478000 40 17 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792751 143792751 + Missense_Mutation SNP T T A TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr7:143792751T>A ENST00000408949.2 + 1 611 c.551T>A c.(550-552)tTc>tAc p.F184Y NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) ATGTCCGTATTCAAATTGGCC 0.493000 12 146 0 0 1 0 0 EFNB2 1948 broad.mit.edu 37 13 107165059 107165059 + Missense_Mutation SNP T T G TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr13:107165059T>G ENST00000245323.4 - 2 373 c.224A>C c.(223-225)tAt>tCt p.Y75S NM_004093.3 NP_004084.1 P52799 EFNB2_HUMAN ephrin-B2 75 cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) AACTTTATAATATTCATACTG 0.393000 7 131 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86591609 86591609 + Nonsense_Mutation SNP A A T TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr1:86591609A>T ENST00000370571.2 - 3 776 c.410T>A c.(409-411)tTa>tAa p.L137* COL24A1_ENST00000436319.1_Nonsense_Mutation_p.L137* NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 137 TSP N-terminal. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TTTAGGTAGTAATTGTACTCC 0.363000 34 46 0 0 1 0 0 DDX4 54514 broad.mit.edu 37 5 55083767 55083767 + Missense_Mutation SNP G G T TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr5:55083767G>T ENST00000505374.1 + 15 1203 c.1111G>T c.(1111-1113)Gta>Tta p.V371L DDX4_ENST00000514278.2_Missense_Mutation_p.V351L|DDX4_ENST00000354991.5_Missense_Mutation_p.V337L|DDX4_ENST00000353507.5_Missense_Mutation_p.V337L|DDX4_ENST00000511853.1_Missense_Mutation_p.V222L NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 371 Helicase ATP-binding. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) GTGTATTATTGTAGCACCAAC 0.388000 51 56 1.81118e-26 2.06391e-26 1 1 0 MUC16 94025 broad.mit.edu 37 19 9061576 9061576 + Missense_Mutation SNP C C A TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr19:9061576C>A ENST00000397910.4 - 3 26073 c.25870G>T c.(25870-25872)Gct>Tct p.A8624S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8626 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 AATATTTCAGCTGAGGTGCTG 0.458000 4 99 1.23904e-05 1.26485e-05 1 1 0 C16orf78 123970 broad.mit.edu 37 16 49433165 49433165 + Silent SNP C C T TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr16:49433165C>T ENST00000299191.3 + 5 891 c.774C>T c.(772-774)acC>acT p.T258T NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 258 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 AGGTGTTCACCGGAATACCCA 0.522000 24 30 0 0 1 0 0 MDM2 4193 broad.mit.edu 37 12 69210669 69210669 + Silent SNP A A C TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr12:69210669A>C ENST00000462284.1 + 4 554 c.252A>C c.(250-252)tcA>tcC p.S84S MDM2_ENST00000299252.4_Intron|MDM2_ENST00000258149.5_Silent_p.S78S|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Silent_p.S84S|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000350057.5_Silent_p.S53S|MDM2_ENST00000348801.2_Intron NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 78 Necessary for interaction with USP2.|SWIB. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TATATTGTTCAAATGATCTTC 0.343000 A """sarcoma, glioma, colorectal, other""" 33 43 0 0 1 0 0 CCKAR 886 broad.mit.edu 37 4 26483533 26483533 + Silent SNP G G A TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr4:26483533G>A ENST00000295589.3 - 5 1208 c.1014C>T c.(1012-1014)taC>taT p.Y338Y NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 338 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity p.Y338Y(1) NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) AGGCGGTGTCGTAGGCCCGCC 0.597000 5 96 0 0 1 0 0 AC022596.6 0 broad.mit.edu 37 17 16723981 16723981 + RNA SNP C C T TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr17:16723981C>T ENST00000417510.1 - 0 685 TCGCTTGGTGCGGAAGTCATC 0.537000 9 32 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6690297 6690297 + Missense_Mutation SNP C C T TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr12:6690297C>T ENST00000309577.6 - 32 5069 c.4906G>A c.(4906-4908)Gtt>Att p.V1636I CHD4_ENST00000544484.1_Missense_Mutation_p.V1633I|CHD4_ENST00000544040.1_Missense_Mutation_p.V1601I|CHD4_ENST00000357008.2_Missense_Mutation_p.V1608I|RP5-940J5.6_ENST00000501075.2_RNA Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1608 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GGTTCAACAACGACCTTTTCA 0.478000 68 95 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168310292 168310292 + Missense_Mutation SNP C C T TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr5:168310292C>T ENST00000519560.1 - 5 882 c.463G>A c.(463-465)Ggc>Agc p.G155S SLIT3_ENST00000332966.8_Missense_Mutation_p.G155S|SLIT3_ENST00000404867.3_Missense_Mutation_p.G155S NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 155 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCGGTGATGCCGCGGAACGCC 0.502000 23 28 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10212891 10212891 + Missense_Mutation SNP C C T TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr17:10212891C>T ENST00000418404.3 - 33 5076 c.4913G>A c.(4912-4914)cGc>cAc p.R1638H MYH13_ENST00000570743.1_Missense_Mutation_p.R1638H|MYH13_ENST00000252172.4_Missense_Mutation_p.R1638H Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1638 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGCCATCTGGCGGTTGGAGTG 0.622000 11 22 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43038404 43038404 + Missense_Mutation SNP G G C TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr15:43038404G>C ENST00000267890.6 - 15 3432 c.3324C>G c.(3322-3324)ttC>ttG p.F1108L NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1108 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CCAGGCGGGAGAAAAGGTCTG 0.418000 19 9 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24372736 24372736 + Missense_Mutation SNP G G A rs150191653 TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr16:24372736G>A ENST00000005284.3 + 4 1702 c.500G>A c.(499-501)cGt>cAt p.R167H NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 167 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CCCGGGCAGCGTGACTCCAAA 0.443000 5 168 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600725 29600725 + Missense_Mutation SNP G G T TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr13:29600725G>T ENST00000431530.3 + 1 1978 c.1920G>T c.(1918-1920)aaG>aaT p.K640N NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 630 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CAGAAACTAAGCCCATCATTA 0.542000 14 27 2.61681e-11 2.78748e-11 1 1 0 FAM129A 116496 broad.mit.edu 37 1 184777346 184777346 + Silent SNP A A G TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr1:184777346A>G ENST00000367511.3 - 10 1390 c.1197T>C c.(1195-1197)ctT>ctC p.L399L FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 399 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 AATGCAGCGGAAGATTCATAA 0.453000 7 55 0 0 1 0 0 GPRC6A 0 broad.mit.edu 37 6 117130667 117130667 + Missense_Mutation SNP C C A TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr6:117130667C>A ENST00000310357.3 - 2 329 c.308G>T c.(307-309)tGt>tTt p.C103F GPRC6A_ENST00000530250.1_Missense_Mutation_p.C103F|GPRC6A_ENST00000368549.3_Missense_Mutation_p.C103F NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 103 response to amino acid stimulus G-protein coupled receptor activity p.C103F(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GACTTCTGTACAAGTGTCATA 0.413000 30 39 1.16021e-09 1.20958e-09 1 1 0 SNX25 83891 broad.mit.edu 37 4 186263216 186263216 + Nonsense_Mutation SNP G G A TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr4:186263216G>A ENST00000504273.1 + 12 1935 c.1641G>A c.(1639-1641)tgG>tgA p.W547* SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Nonsense_Mutation_p.W547* Q9H3E2 SNX25_HUMAN sorting nexin 25 547 PX. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) CTAAGAACTGGACGGTCCCCA 0.433000 58 99 0 0 1 0 0 OR10A4 283297 broad.mit.edu 37 11 6898108 6898108 + Missense_Mutation SNP T T C TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr11:6898108T>C ENST00000379829.2 + 1 253 c.230T>C c.(229-231)gTc>gCc p.V77A NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTCAACTTGGTCATTGTGCCC 0.458000 6 89 0 0 1 0 0 DNAH12 201625 broad.mit.edu 37 3 57509313 57509313 + Frame_Shift_Del DEL T T - TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr3:57509313delT ENST00000351747.2 - 4 456 c.276delA c.(274-276)aafs p.K92fs DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 92 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.G93fs*7(2) breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 AACTCACTCCTTTTTTTTTCA 0.254 7 57 --- --- --- --- DNAH11 8701 broad.mit.edu 37 7 21781718 21781718 + Frame_Shift_Del DEL C C - TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr7:21781718delC ENST00000328843.6 + 50 8140 c.8109delC c.(8107-8109)aafs p.N2703fs DNAH11_ENST00000409508.3_Frame_Shift_Del_p.N2696fs Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2703 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGATGTGTAACTTTTTACCCA 0.418 Kartagener syndrome 36 74 --- --- --- --- GTF2IRD1P1 0 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 3 5 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105765409 105765409 + Frame_Shift_Del DEL A A - TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr10:105765409delA ENST00000369755.3 + 10 2985 c.2440delA c.(2440-2442)cafs p.T814fs SLK_ENST00000335753.4_Frame_Shift_Del_p.T814fs NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 814 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AAAGATAGTTACAGATAGTGA 0.343 33 35 --- --- --- --- PHLDB1 23187 broad.mit.edu 37 11 118513008 118513021 + Frame_Shift_Del DEL CAGTGGTACCAGGA CAGTGGTACCAGGA - TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr11:118513008_118513021delCAGTGGTACCAGGA ENST00000361417.2 + 14 3184_3197 c.2773_2786delCAGTGGTACCAGGA c.(2773-2787)gfs p.QWYQE925fs PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000356063.5_Intron|PHLDB1_ENST00000524713.1_Frame_Shift_Del_p.QWYQE68fs NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 925 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) AGACTTAGAGCAGTGGTACCAGGAGCTGATGGCC 0.640 24 102 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 3 5 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579716 7579716 + Frame_Shift_Del DEL G G - TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr17:7579716delG ENST00000420246.2 - 3 212 c.80delC c.(79-81)ctfs p.P27fs TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 27 Interaction with HRMT1L2.|Transcription activation (acidic). 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.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(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) GTTGTTTTCAGGAAGTCTGAA 0.617 111 """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) 37 37 --- --- --- --- CD79A 0 broad.mit.edu 37 19 42384999 42384999 + Frame_Shift_Del DEL G G - TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0a54624-8f3c-4b1b-86d5-61ba2b23301e 6b10639c-71dc-4e9e-9b88-65335e63c029 g.chr19:42384999delG ENST00000221972.3 + 5 818 c.633delG c.(631-633)cafs p.Q211fs CD79A_ENST00000444740.2_Frame_Shift_Del_p.Q173fs NM_001783.3|NM_021601.3 NP_001774.1|NP_067612.1 P11912 CD79A_HUMAN CD79a molecule, immunoglobulin-associated alpha 211 B cell differentiation|B cell proliferation|B cell receptor signaling pathway B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body transmembrane receptor activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 11 GCACCTACCAGGATGTGGGCA 0.627 """O, S""" DLBCL 2 4 --- --- --- ---