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 PTPRD 5789 broad.mit.edu 37 9 8633423 8633423 + Silent SNP G G A TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr9:8633423G>A ENST00000381196.4 - 11 789 c.246C>T c.(244-246)ctC>ctT p.L82L PTPRD_ENST00000540109.1_Silent_p.L82L|PTPRD_ENST00000537002.1_Silent_p.L82L|PTPRD_ENST00000486161.1_Silent_p.L82L|PTPRD_ENST00000356435.5_Silent_p.L82L|PTPRD_ENST00000355233.5_Silent_p.L82L|PTPRD_ENST00000360074.4_Silent_p.L82L|PTPRD_ENST00000397606.3_Silent_p.L82L|PTPRD_ENST00000397611.3_Silent_p.L82L|PTPRD_ENST00000397617.3_Silent_p.L82L|PTPRD_ENST00000463477.1_Silent_p.L82L|PTPRD_ENST00000358503.5_Silent_p.L82L NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 82 Ig-like C2-type 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GTTGTATTCTGAGAACTGATC 0.428000 TSP Lung(15;0.13) 20 13 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34256165 34256165 + Missense_Mutation SNP T T C rs36062910 TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr9:34256165T>C ENST00000379166.2 - 11 3559 c.3440A>G c.(3439-3441)gAg>gGg p.E1147G KIF24_ENST00000345050.2_Missense_Mutation_p.E1013G|KIF24_ENST00000402558.2_Missense_Mutation_p.E1147G|KIF24_ENST00000379174.3_Missense_Mutation_p.E1013G NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 1147 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) TAGGTCTGCCTCCCTGCTGGG 0.572000 15 23 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84609437 84609437 + Missense_Mutation SNP G G T TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr9:84609437G>T ENST00000344803.2 + 4 4099 c.4052G>T c.(4051-4053)aGa>aTa p.R1351I NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 AACCTTTTCAGAAAATGGATG 0.443000 7 9 5.18039e-06 5.30087e-06 1 1 0 EIF1AX 1964 broad.mit.edu 37 X 20156713 20156713 + Missense_Mutation SNP C C A TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chrX:20156713C>A ENST00000379607.5 - 2 247 c.44G>T c.(43-45)gGt>gTt p.G15V EIF1AX_ENST00000379593.1_Intron NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked 15 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 CTCATTCTTACCCCTGCGTCT 0.308000 13 2 7.03913e-09 7.37432e-09 1 1 0 ACAN 176 broad.mit.edu 37 15 89382142 89382142 + Missense_Mutation SNP C C A TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr15:89382142C>A ENST00000439576.2 + 3 693 c.319C>A c.(319-321)Ccc>Acc p.P107T ACAN_ENST00000561243.1_Missense_Mutation_p.P107T|ACAN_ENST00000559004.1_Missense_Mutation_p.P107T|ACAN_ENST00000352105.7_Missense_Mutation_p.P107T|ACAN_ENST00000558207.1_Missense_Mutation_p.P107T NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 107 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGTCTCACTGCCCAACTACCC 0.612000 34 105 2.66277e-13 2.8576e-13 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34034977 34034977 + Missense_Mutation SNP G G A rs143459383 TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr1:34034977G>A ENST00000373381.4 - 52 8304 c.8128C>T c.(8128-8130)Ctt>Ttt p.L2710F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2712 Sushi 17. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACTTACCAAGGCAGCGGACT 0.502000 17 36 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76855199 76855199 + Splice_Site SNP A A G TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chrX:76855199A>G ENST00000373344.5 - 24 6001 c.e24+1 ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 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) TATTCGATTTACTTTGTATAA 0.348000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 6 1 0 0 1 0 0 CELP 0 broad.mit.edu 37 9 135962189 135962189 + RNA SNP C C G rs1755630 by1000genomes TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr9:135962189C>G ENST00000411440.2 + 0 696 NR_001275.2 CAACATGGGCCACTCGGCTGT 0.627000 3 9 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128482972 128482972 + Silent SNP G G A TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr7:128482972G>A ENST00000325888.8 + 16 2775 c.2514G>A c.(2512-2514)gcG>gcA p.A838A FLNC_ENST00000346177.6_Silent_p.A838A NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 838 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CACCAGGGGCGGGCCGCTACA 0.592000 18 29 0 0 1 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32521666 32521666 + RNA SNP T T C rs117454723 by1000genomes TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr6:32521666T>C ENST00000411500.1 - 0 817 NR_001298.1 AACAGCCCTGTCCCAAGGAAG 0.507000 3 10 0 0 1 0 0 RAB23 51715 broad.mit.edu 37 6 57058690 57058690 + Missense_Mutation SNP T T A TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr6:57058690T>A ENST00000317483.3 - 6 1143 c.524A>T c.(523-525)cAa>cTa p.Q175L RAB23_ENST00000468148.1_Missense_Mutation_p.Q175L NM_016277.3 NP_057361.3 Q9ULC3 RAB23_HUMAN RAB23, member RAS oncogene family 175 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 8 Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AGCTATTTGTTGTTTGAGTTT 0.318000 9 5 0 0 1 0 0 PTPRCAP 5790 broad.mit.edu 37 11 67203469 67203469 + Missense_Mutation SNP G G A TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr11:67203469G>A ENST00000326294.3 - 2 803 c.356C>T c.(355-357)gCg>gTg p.A119V NM_005608.2 NP_005599.1 Q14761 PTCA_HUMAN protein tyrosine phosphatase, receptor type, C-associated protein 119 defense response integral to membrane|plasma membrane skin(1)|upper_aerodigestive_tract(1) 2 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GCCACCATCCGCGACGTGGTC 0.657000 10 44 0 0 1 0 0 SLC19A3 80704 broad.mit.edu 37 2 228563995 228563995 + Missense_Mutation SNP C C T rs147502239 byFrequency TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr2:228563995C>T ENST00000258403.3 - 3 507 c.436G>A c.(436-438)Gtc>Atc p.V146I SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.V142I NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 146 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) GCCAGCGTGACGCTCCTGCAG 0.592000 57 86 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 45 7 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56203630 56203630 + Silent SNP G G A rs76266246 byFrequency TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr18:56203630G>A ENST00000361673.3 - 5 4002 c.3789C>T c.(3787-3789)gaC>gaT p.D1263D RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1263 ATP binding|protein serine/threonine kinase activity p.D624D(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TGAGACCACCGTCTGATGCCT 0.498000 53 65 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 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 8 17 0 0 1 0 0 SCLY 51540 broad.mit.edu 37 2 239002577 239002577 + Missense_Mutation SNP A A G TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr2:239002577A>G ENST00000254663.6 + 9 1163 c.1021A>G c.(1021-1023)Agg>Ggg p.R341G SCLY_ENST00000429612.2_Missense_Mutation_p.R127G|SCLY_ENST00000422984.2_Missense_Mutation_p.R239G|SCLY_ENST00000555827.1_Missense_Mutation_p.R333G NM_016510.5 NP_057594.4 Q96I15 SCLY_HUMAN selenocysteine lyase 333 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 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;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) CCTGGAAGAGAGGCTGGAAGT 0.672000 11 10 0 0 1 0 0 ECT2 1894 broad.mit.edu 37 3 172472415 172472415 + Missense_Mutation SNP A A T TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr3:172472415A>T ENST00000417960.1 + 3 572 c.95A>T c.(94-96)gAa>gTa p.E32V ECT2_ENST00000392692.3_Missense_Mutation_p.E32V|ECT2_ENST00000232458.5_Missense_Mutation_p.E32V|ECT2_ENST00000427830.1_Missense_Mutation_p.E32V|ECT2_ENST00000540509.1_Missense_Mutation_p.E32V|ECT2_ENST00000441497.2_Missense_Mutation_p.E32V NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 32 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) ATTTCCAAGGAAAACTTACTT 0.323000 3 11 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161173247 161173247 + Silent SNP C C T TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr6:161173247C>T ENST00000308192.9 + 18 2289 c.2226C>T c.(2224-2226)acC>acT p.T742T NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 742 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TCCAATCCACCGAACTCTGTG 0.488000 21 28 0 0 1 0 0 FTH1 2495 broad.mit.edu 37 11 61732945 61732945 + Missense_Mutation SNP C C G TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr11:61732945C>G ENST00000273550.7 - 2 391 c.157G>C c.(157-159)Gcc>Ccc p.A53P FTH1_ENST00000532601.1_5'UTR|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.A23P|FTH1_ENST00000529191.1_Intron NM_002032.2 NP_002023.2 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 53 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) AAGTATTTGGCAAAGTTCTTC 0.458000 29 29 0 0 1 0 0 KIAA1009 22832 broad.mit.edu 37 6 84913701 84913701 + Missense_Mutation SNP G G C TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr6:84913701G>C ENST00000403245.3 - 7 799 c.685C>G c.(685-687)Cag>Gag p.Q229E KIAA1009_ENST00000257766.4_Missense_Mutation_p.Q153E NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 229 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) ATATATACCTGTTTGGGCACA 0.343000 3 16 0 0 1 0 0 TPM2 7169 broad.mit.edu 37 9 35685321 35685321 + Missense_Mutation SNP C C A TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr9:35685321C>A ENST00000378292.3 - 5 1710 c.508G>T c.(508-510)Gtg>Ttg p.V170L TPM2_ENST00000360958.2_Missense_Mutation_p.V170L|TPM2_ENST00000329305.2_Missense_Mutation_p.V170L|TPM2_ENST00000378300.5_Missense_Mutation_p.V170L NM_213674.1 NP_998839.1 P07951 TPM2_HUMAN tropomyosin 2 (beta) 170 muscle filament sliding|regulation of ATPase activity cytosol|muscle thin filament tropomyosin actin binding|structural constituent of muscle NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCCAGGATCACCAGCTTCCTG 0.627000 11 26 5.50884e-06 5.50884e-06 1 1 0 FAM155A 728215 broad.mit.edu 37 13 108518709 108518709 + Missense_Mutation SNP T T C TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr13:108518709T>C ENST00000375915.2 - 1 374 c.236A>G c.(235-237)cAg>cGg p.Q79R NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 79 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ctgctgctgctgctgccgctg 0.677000 21 29 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38523540 38523540 + Missense_Mutation SNP C C G TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr5:38523540C>G ENST00000263409.4 - 5 704 c.542G>C c.(541-543)aGt>aCt p.S181T LIFR_ENST00000453190.2_Missense_Mutation_p.S181T|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 181 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity p.S181T(2) NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) GAGCTCCATACTCTCTTTACG 0.343000 T PLAG1 salivary adenoma 15 31 0 0 1 0 0 HADHA 3030 broad.mit.edu 37 2 26437420 26437420 + Silent SNP C C T TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr2:26437420C>T ENST00000380649.3 - 9 939 c.810G>A c.(808-810)gcG>gcA p.A270A HADHA_ENST00000457468.2_Silent_p.A183A NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 270 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) TCATGGCATACGCTGTCAATT 0.338000 5 10 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71010063 71010063 + Missense_Mutation SNP G G A rs148336562 by1000genomes TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr10:71010063G>A ENST00000354624.5 + 11 1721 c.1588G>A c.(1588-1590)Gcc>Acc p.A530T HKDC1_ENST00000395086.2_Missense_Mutation_p.A530T NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 530 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 AAAGTTTCTCGCCCTGGATCT 0.547000 20 180 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55904857 55904857 + Missense_Mutation SNP A A G TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr11:55904857A>G ENST00000301529.1 - 1 337 c.338T>C c.(337-339)aTg>aCg p.M113T NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) AGCCAGCATCATTACCTCCGA 0.478000 11 79 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2775986 2775986 + Silent SNP G G A TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr20:2775986G>A ENST00000380605.2 - 12 1861 c.1797C>T c.(1795-1797)caC>caT p.H599H NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 599 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 ATTCATTCTCGTGAGGGAACT 0.567000 19 20 0 0 1 0 0 DIO2 1734 broad.mit.edu 37 14 80669148 80669148 + Missense_Mutation SNP G G C TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr14:80669148G>C ENST00000557010.1 - 4 1091 c.706C>G c.(706-708)Cag>Gag p.Q236E DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.Q272E|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.Q236E NM_000793.5|NM_001242502.1|NM_001242503.1 NP_000784.2|NP_001229431.1|NP_001229432.1 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II 236 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) GCAATTTTCTGTCTCTGCACA 0.507000 23 24 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 218471 218471 + Translation_Start_Site SNP A A G rs1061517 TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr5:218471A>G ENST00000264932.6 + 1 116 c.1A>G c.(1-3)Atg>Gtg p.M1V SDHA_ENST00000504309.1_Start_Codon_SNP_p.M1V|SDHA_ENST00000510361.1_Start_Codon_SNP_p.M1V NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 1 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) AACAGCAGACATGTCGGGGGT 0.776000 Familial Paragangliomas 10 16 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2924865 2924865 + Missense_Mutation SNP A A G TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr3:2924865A>G ENST00000397461.1 + 8 1073 c.689A>G c.(688-690)cAg>cGg p.Q230R CNTN4_ENST00000418658.1_Missense_Mutation_p.Q230R|CNTN4_ENST00000427331.1_Missense_Mutation_p.Q230R|CNTN4_ENST00000358480.3_Missense_Mutation_p.Q11R NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 230 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ATAGAAGTGCAGTTCCCAGAA 0.408000 13 17 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92076966 92076966 + Missense_Mutation SNP G G A TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr14:92076966G>A ENST00000256343.3 - 21 2612 c.2456C>T c.(2455-2457)aCg>aTg p.T819M NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 819 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CACCATTGTCGTAACAAAGCA 0.373000 7 25 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 35048910 35048910 + Missense_Mutation SNP C C T TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr6:35048910C>T ENST00000360359.3 + 17 2822 c.2684C>T c.(2683-2685)tCc>tTc p.S895F ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 895 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GCGGCACCCTCCCGAGCGGAG 0.657000 11 26 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89382124 89382124 + Missense_Mutation SNP C C G TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr15:89382124C>G ENST00000439576.2 + 3 675 c.301C>G c.(301-303)Cag>Gag p.Q101E ACAN_ENST00000561243.1_Missense_Mutation_p.Q101E|ACAN_ENST00000559004.1_Missense_Mutation_p.Q101E|ACAN_ENST00000352105.7_Missense_Mutation_p.Q101E|ACAN_ENST00000558207.1_Missense_Mutation_p.Q101E NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 101 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CAGTGCCTATCAGGACAAGGT 0.617000 30 103 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98497374 98497374 + Missense_Mutation SNP G G T TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr7:98497374G>T ENST00000359863.4 + 10 993 c.784G>T c.(784-786)Gtg>Ttg p.V262L TRRAP_ENST00000355540.3_Missense_Mutation_p.V262L|TRRAP_ENST00000446306.3_Missense_Mutation_p.V262L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 262 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGCCATTCAGGTGTCTGCACA 0.438000 11 23 6.81908e-15 7.50099e-15 1 1 0 FERMT2 10979 broad.mit.edu 37 14 53385874 53385874 + Missense_Mutation SNP A A G TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr14:53385874A>G ENST00000395631.2 - 3 574 c.358T>C c.(358-360)Ttc>Ctc p.F120L FERMT2_ENST00000343279.4_Missense_Mutation_p.F120L|FERMT2_ENST00000399304.3_Missense_Mutation_p.F120L|FERMT2_ENST00000553373.1_Missense_Mutation_p.F120L|FERMT2_ENST00000341590.3_Missense_Mutation_p.F120L Q96AC1 FERM2_HUMAN fermitin family member 2 120 actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) ACAGCTTTGAAGACTCTATCA 0.393000 25 31 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117768538 117768538 + Missense_Mutation SNP C C T TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr12:117768538C>T ENST00000317775.6 - 2 1022 c.337G>A c.(337-339)Ggt>Agt p.G113S NOS1_ENST00000338101.4_Missense_Mutation_p.G113S|NOS1_ENST00000344089.3_Missense_Mutation_p.G113S NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 113 Interaction with NOSIP (By similarity). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GTCCCATCACCTGTAAAGGTG 0.632000 15 24 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366912 248366912 + Frame_Shift_Del DEL C C - TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr1:248366912delC ENST00000456743.1 + 1 581 c.543delC c.(541-543)ttfs p.F181fs NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 181 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) TCTGTGACTTCCCCTCCCTAC 0.423 42 144 --- --- --- --- OR2T35 403244 broad.mit.edu 37 1 248801602 248801603 + Frame_Shift_Ins INS - - CA TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr1:248801602_248801603insCA ENST00000317450.3 - 1 956_957 c.957_958insTG c.(955-960)gttcagfs p.Q320fs NM_001001827.1 NP_001001827.1 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, member 35 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I320fs*1(1) endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTTCCTGATCACAGTCGCCA 0.545 2 4 --- --- --- --- RP11-556I14.1 0 broad.mit.edu 37 4 105918246 105918247 + RNA INS - - TTT rs145057012 TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr4:105918246_105918247insTTT ENST00000506386.1 + 0 71 tttttttttccttttttttttt 0.317 2 4 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr5:149216400_149216402delCAG ENST00000309241.5 + 8 2414_2416 c.2382_2384delCAG c.(2380-2385)gac>ga p.DS794del PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 794 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 7 147 --- --- --- --- HDGFL1 154150 broad.mit.edu 37 6 22570347 22570349 + In_Frame_Del DEL GGC GGC - TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr6:22570347_22570349delGGC ENST00000510882.2 + 1 553_555 c.543_545delGGC c.(541-546)agg>ag p.RA181del HDGFL1_ENST00000230012.3_In_Frame_Del_p.RA181del Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 181 Ala-rich.|Glu-rich. kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) aagcggagagggcggcggcggcg 0.768 3 5 --- --- --- --- AEBP2 121536 broad.mit.edu 37 12 19592913 19592913 + Frame_Shift_Del DEL G G - TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr12:19592913delG ENST00000266508.9 + 1 281 c.280delG c.(280-282)ggfs p.G94fs AEBP2_ENST00000398864.3_Frame_Shift_Del_p.G94fs|AEBP2_ENST00000541908.1_Intron NM_153207.4 NP_694939.2 Q6ZN18 AEBP2_HUMAN AE binding protein 2 94 Glu-rich.|Gly-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143) CAGCCAGGCCGGggaggacga 0.741 2 4 --- --- --- --- CLCN7 1186 broad.mit.edu 37 16 1506159 1506159 + Frame_Shift_Del DEL C C - TCGA-DB-A4XB-01A-11D-A26M-08 TCGA-DB-A4XB-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aaf7e22-1669-4db1-b137-944ff01ddbdc 456815aa-07ae-46de-bf95-78b15569f6b1 g.chr16:1506159delC ENST00000382745.4 - 10 1476 c.871delG c.(871-873)cafs p.A291fs CLCN7_ENST00000262318.8_Frame_Shift_Del_p.A267fs|CLCN7_ENST00000448525.1_Frame_Shift_Del_p.A267fs NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 291 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) GCAGCCCCTGCGGAGACGAAG 0.652 2 4 --- --- --- ---