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 STXBP4 252983 broad.mit.edu 37 17 53158448 53158448 + Missense_Mutation SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:53158448A>C ENST00000376352.2 + 16 1600 c.1393A>C c.(1393-1395)Aca>Cca p.T465P STXBP4_ENST00000434978.2_Missense_Mutation_p.T443P NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 465 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 GACTTCCCTCACACCACTGGG 0.393000 4 47 0 0 0.00024832 0 0 C10orf95 79946 broad.mit.edu 37 10 104210810 104210810 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr10:104210810C>T ENST00000239125.1 - 2 252 c.178G>A c.(178-180)Ggc>Agc p.G60S RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000492465.2_RNA NM_024886.1 NP_079162.1 Q9H7T3 CJ095_HUMAN chromosome 10 open reading frame 95 60 Arg/Pro-rich. liver(1) 1 Colorectal(252;0.207) Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213) CGGCGGCGGCCAGACGCCCTG 0.716000 7 16 0 0 0.00307968 0 0 DCC 1630 broad.mit.edu 37 18 50977000 50977000 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr18:50977000T>G ENST00000442544.2 + 23 3976 c.3360T>G c.(3358-3360)atT>atG p.I1120M DCC_ENST00000581580.1_Missense_Mutation_p.I755M NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1120 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGGCTGTGATTTGCACCCGAC 0.488000 6 36 0 0 0.00116845 0 0 ALG1 56052 broad.mit.edu 37 16 5127458 5127458 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr16:5127458C>A ENST00000588623.1 + 6 1319 c.219C>A c.(217-219)ttC>ttA p.F73L ALG1_ENST00000544428.1_Missense_Mutation_p.F73L|ALG1_ENST00000262374.5_Missense_Mutation_p.F184L Q9BT22 ALG1_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 184 dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) ACGAGAAGTTCTTTGGGCGCC 0.552000 19 100 1.01871e-10 5.68688e-10 0.00121646 1 0 KIAA1024 23251 broad.mit.edu 37 15 79750590 79750590 + Nonsense_Mutation SNP A A T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr15:79750590A>T ENST00000305428.3 + 2 2176 c.2101A>T c.(2101-2103)Aaa>Taa p.K701* NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 701 integral to membrane p.K701*(1) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 GGCCTTAAAAAAAAGCCTCTT 0.552000 12 108 0 0 0.000978159 0 0 STRADA 92335 broad.mit.edu 37 17 61781730 61781730 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:61781730C>A ENST00000392950.4 - 9 1233 c.960G>T c.(958-960)gaG>gaT p.E320D RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000582137.1_Intron|STRADA_ENST00000336174.6_Missense_Mutation_p.E357D|STRADA_ENST00000375840.4_Missense_Mutation_p.E299D|STRADA_ENST00000447001.3_Intron|STRADA_ENST00000580039.1_5'UTR NM_001003786.2|NM_001165969.1|NM_153335.5 NP_001003786.1|NP_001159441.1|NP_699166.2 Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha 357 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2) 13 GAAGGCACTGCTCCACAAAGT 0.662000 4 25 0.00116845 0.00576282 0.00116845 1 0 DIS3 22894 broad.mit.edu 37 13 73346872 73346872 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr13:73346872G>A ENST00000377767.4 - 9 1445 c.1345C>T c.(1345-1347)Ctt>Ttt p.L449F DIS3_ENST00000545453.1_Missense_Mutation_p.L287F|DIS3_ENST00000377780.4_Missense_Mutation_p.L419F NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 449 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) AGAAAACTAAGAACAGCCTGT 0.363000 Multiple Myeloma(4;0.011) 4 98 0 0 0.000602214 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627757 43627757 + Silent SNP A A G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr9:43627757A>G ENST00000332857.6 - 4 958 c.930T>C c.(928-930)tgT>tgC p.C310C NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CTTCCATCTGACAGGTCTCTG 0.532000 4 216 0 0 0.00116845 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 3 71 0 0 6.4e-05 0 0 SNHG12 85028 broad.mit.edu 37 1 28906300 28906300 + RNA SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:28906300C>A ENST00000488745.1 - 0 1170 SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA AGCCCACATGCCATATACCAG 0.433000 21 65 1.22574e-08 6.69543e-08 0.00229938 1 0 TP53 7157 broad.mit.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:7578534C>G ENST00000420246.2 - 5 528 c.396G>C c.(394-396)aaG>aaC p.K132N TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 132 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; 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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAAAACATCTTGTTGAGGG 0.562000 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) 17 15 0 0 0.00400662 0 0 UNC93A 54346 broad.mit.edu 37 6 167721317 167721317 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr6:167721317C>T ENST00000230256.3 + 7 1202 c.1027C>T c.(1027-1029)Cgt>Tgt p.R343C UNC93A_ENST00000366829.2_Missense_Mutation_p.R301C NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 343 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GTGGAGACCTCGTGCTGACCA 0.617000 7 63 0 0 0.00198382 0 0 PKD1 5310 broad.mit.edu 37 16 2159543 2159543 + Silent SNP G G C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr16:2159543G>C ENST00000262304.4 - 15 5833 c.5625C>G c.(5623-5625)gtC>gtG p.V1875V PKD1_ENST00000423118.1_Silent_p.V1875V NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1875 PKD 14. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ACGTGGCTGAGACCCAGCTGA 0.652000 8 13 0 0 0.000274275 0 0 GLOD5 392465 broad.mit.edu 37 X 48629492 48629492 + Silent SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chrX:48629492C>T ENST00000303227.6 + 3 392 c.351C>T c.(349-351)caC>caT p.H117H GLOD5_ENST00000470676.1_3'UTR NM_001080489.2 NP_001073958.2 glyoxalase domain containing 5 endometrium(1)|lung(2) 3 TGATCCAGCACCTCAAGGTGA 0.483000 18 10 0 0 0.00074312 0 0 PCCA 5095 broad.mit.edu 37 13 100861712 100861712 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr13:100861712G>A ENST00000376285.1 + 7 633 c.595G>A c.(595-597)Gtc>Atc p.V199I PCCA_ENST00000376279.3_Missense_Mutation_p.V199I|PCCA_ENST00000376286.4_Missense_Mutation_p.V173I NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 199 ATP-grasp.|Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TGATGGAGTAGTCAAGGTGAG 0.338000 10 63 0 0 0.000673444 0 0 ZRANB3 84083 broad.mit.edu 37 2 135965229 135965229 + Silent SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr2:135965229C>T ENST00000401392.1 - 19 2990 c.2778G>A c.(2776-2778)gcG>gcA p.A926A ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Silent_p.A926A|ZRANB3_ENST00000264159.6_Silent_p.A928A Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 928 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) CCCAAGAGTTCGCTTTACATG 0.428000 28 194 0 0 0.000720815 0 0 CILP2 148113 broad.mit.edu 37 19 19655256 19655256 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:19655256G>A ENST00000586018.1 + 8 2022 c.1920G>A c.(1918-1920)ctG>ctA p.L640L CILP2_ENST00000291495.4_Silent_p.L634L Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 634 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 ACGGCGAGCTGGCTCCACTGC 0.736000 7 123 0 0 0.000274275 0 0 RRP7BP 91695 broad.mit.edu 37 22 42971987 42971987 + RNA SNP T T C rs137064 by1000genomes TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr22:42971987T>C ENST00000357802.2 - 0 733 p.Q59R(1) CAGCTCTTTTTGGCTGCGCTT 0.672000 3 23 0 0 6.4e-05 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 3 6 0 0 6.4e-05 0 0 ABCC9 10060 broad.mit.edu 37 12 21967641 21967641 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr12:21967641G>A ENST00000261200.4 - 33 4038 c.4039C>T c.(4039-4041)Cgc>Tgc p.R1347C ABCC9_ENST00000261201.4_Missense_Mutation_p.R1347C|ABCC9_ENST00000345162.2_Missense_Mutation_p.R1311C NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1347 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTGCCAGTGCGACCACATATG 0.388000 8 47 0 0 0.000442599 0 0 DOPEY1 23033 broad.mit.edu 37 6 83834513 83834513 + Missense_Mutation SNP A A T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr6:83834513A>T ENST00000349129.2 + 13 1690 c.1430A>T c.(1429-1431)gAt>gTt p.D477V DOPEY1_ENST00000369739.3_Missense_Mutation_p.D468V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.D468V NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 477 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TTACTGGTGGATTTTTTGTTG 0.393000 26 57 0 0 0.000878237 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734913 12734913 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chrX:12734913G>A ENST00000380682.1 + 15 2841 c.2335G>A c.(2335-2337)Gac>Aac p.D779N NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 779 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 GTCAAGCGATGACATCATTGA 0.592000 9 100 0 0 0.000673444 0 0 RNF40 9810 broad.mit.edu 37 16 30779808 30779808 + Silent SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr16:30779808C>A ENST00000324685.6 + 13 2371 c.1936C>A c.(1936-1938)Cgg>Agg p.R646R RNF40_ENST00000357890.5_Silent_p.R546R|RNF40_ENST00000563683.1_Silent_p.R606R|RNF40_ENST00000402121.3_Silent_p.R338R NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 646 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) AGAAACCAAGCGGAAGGAATC 0.597000 4 75 0.00024832 0.00127421 0.00024832 1 0 CYB561A3 220002 broad.mit.edu 37 11 61124072 61124072 + Missense_Mutation SNP A A T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr11:61124072A>T ENST00000546151.1 - 3 382 c.114T>A c.(112-114)aaT>aaA p.N38K CYB561A3_ENST00000447532.2_Missense_Mutation_p.N38K|CYB561A3_ENST00000544118.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000294072.4_Missense_Mutation_p.N38K|CYB561A3_ENST00000539890.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000536915.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000426130.2_Missense_Mutation_p.N55K cytochrome b561 family, member A3 AGATGCTGCCATTCCAGGCAA 0.547000 24 91 0 0 0.00332997 0 0 TEK 7010 broad.mit.edu 37 9 27220088 27220088 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr9:27220088G>A ENST00000380036.4 + 21 3587 c.3145G>A c.(3145-3147)Gag>Aag p.E1049K TEK_ENST00000406359.4_Missense_Mutation_p.E1006K|TEK_ENST00000519097.1_Missense_Mutation_p.E901K NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 1049 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) AGAACTCTACGAGAAGCTGCC 0.532000 6 96 0 0 0.000274275 0 0 FAM110B 90362 broad.mit.edu 37 8 59059406 59059406 + Missense_Mutation SNP T T C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr8:59059406T>C ENST00000361488.3 + 5 1497 c.617T>C c.(616-618)gTg>gCg p.V206A FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 206 microtubule organizing center|mitochondrion|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) ATCCGCAAGGTGACCAGCGTG 0.657000 11 72 0 0 0.00136819 0 0 QPCT 25797 broad.mit.edu 37 2 37599902 37599902 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr2:37599902G>A ENST00000338415.3 + 7 1176 c.1018G>A c.(1018-1020)Gat>Aat p.D340N QPCT_ENST00000537448.1_Missense_Mutation_p.D291N NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 340 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17 Ovarian(717;0.051)|all_hematologic(82;0.21) AGAAAATTTGGATGAATCAAC 0.358000 4 75 0 0 0.000602214 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 4 36 0 0 0.000602214 0 0 HTR4 3360 broad.mit.edu 37 5 147845444 147845444 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr5:147845444C>G ENST00000314512.6 - 7 1284 c.1121G>C c.(1120-1122)aGa>aCa p.R374T HTR4_ENST00000521735.1_Missense_Mutation_p.R374T|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron NM_199453.3 NP_955525.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 0 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) AGGAACTGGTCTATTGCAGAA 0.443000 5 144 0 0 0.000602214 0 0 MAN1C1 57134 broad.mit.edu 37 1 25944781 25944781 + Nonsense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:25944781C>T ENST00000374332.4 + 1 823 c.493C>T c.(493-495)Cag>Tag p.Q165* MAN1C1_ENST00000263979.3_5'UTR NM_020379.2 NP_065112.1 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 165 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) CGATGAGAGTCAGGAGCCCCA 0.637000 5 12 0 0 0.00116845 0 0 PAPPA2 60676 broad.mit.edu 37 1 176563958 176563958 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:176563958G>T ENST00000367662.3 + 3 2382 c.1218G>T c.(1216-1218)ttG>ttT p.L406F PAPPA2_ENST00000367661.3_Missense_Mutation_p.L406F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 406 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCCGCTCTTTGCTCCTGGGGG 0.587000 32 59 4.3181e-19 2.49272e-18 0.00283554 1 0 HTR3D 200909 broad.mit.edu 37 3 183754191 183754191 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr3:183754191G>T ENST00000382489.3 + 4 409 c.409G>T c.(409-411)Gct>Tct p.A137S HTR3D_ENST00000334128.2_Missense_Mutation_p.A2S|HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000428798.2_Missense_Mutation_p.A76S NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 137 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGGTCTCATGGCTAGTATGTC 0.507000 16 23 4.14922e-12 2.342e-11 0.00400662 1 0 SULF1 23213 broad.mit.edu 37 8 70536227 70536227 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr8:70536227G>A ENST00000260128.4 + 15 2362 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K SULF1_ENST00000419716.3_Missense_Mutation_p.E549K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.E549K|SULF1_ENST00000402687.4_Missense_Mutation_p.E549K NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 549 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CTTGTCCGTCGAATTTGAAGG 0.408000 11 63 0 0 0.000673444 0 0 CERKL 375298 broad.mit.edu 37 2 182414397 182414397 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr2:182414397G>A ENST00000410087.3 - 6 959 c.859C>T c.(859-861)Cct>Tct p.P287S CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Missense_Mutation_p.P174S|CERKL_ENST00000409440.3_Missense_Mutation_p.P269S|CERKL_ENST00000374970.2_Missense_Mutation_p.P218S|CERKL_ENST00000339098.5_Missense_Mutation_p.P313S NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 313 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) ATCACATGAGGAACTCCATGA 0.343000 11 80 0 0 0.000673444 0 0 FLG 2312 broad.mit.edu 37 1 152283083 152283083 + Missense_Mutation SNP C C T rs148844389 byFrequency TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:152283083C>T ENST00000368799.1 - 3 4314 c.4279G>A c.(4279-4281)Gca>Aca p.A1427T FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1427 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCCACGTGCGGACTCTTTG 0.557000 Ichthyosis 38 318 0 0 0.000953801 0 0 TRIM48 79097 broad.mit.edu 37 11 55032644 55032644 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr11:55032644G>A ENST00000417545.2 + 2 399 c.313G>A c.(313-315)Gag>Aag p.E105K NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 89 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CCTGAGCTCTGAGGAGCAAAT 0.483000 8 61 0 0 0.000274275 0 0 TRGV9 6983 broad.mit.edu 37 7 38356883 38356883 + RNA SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:38356883G>A ENST00000444775.2 - 0 1469 TTTTGACAGCGTTTTAGTACT 0.423000 10 76 0 0 0.000673444 0 0 OR14A16 284532 broad.mit.edu 37 1 247978414 247978414 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:247978414G>A ENST00000357627.1 - 1 617 c.618C>T c.(616-618)ttC>ttT p.F206F NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TAAAACAGCAGAAATCCAAAA 0.373000 4 50 0 0 0.00024832 0 0 KIAA2018 205717 broad.mit.edu 37 3 113378750 113378750 + Silent SNP G G C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr3:113378750G>C ENST00000316407.4 - 7 2189 c.1779C>G c.(1777-1779)ctC>ctG p.L593L KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.L593L NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 593 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GAGCAGGGAGGAGTGGCAAAG 0.473000 30 67 0 0 0.00178596 0 0 SRRT 51593 broad.mit.edu 37 7 100483362 100483362 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:100483362C>T ENST00000388793.4 + 11 1575 c.1355C>T c.(1354-1356)tCa>tTa p.S452L SRRT_ENST00000457580.2_Missense_Mutation_p.S453L|SRRT_ENST00000347433.4_Missense_Mutation_p.S453L|SRRT_ENST00000432932.1_Missense_Mutation_p.S452L NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 453 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GTGGCGCTCTCAGAGCCCCAG 0.537000 18 99 0 0 0.00074312 0 0 PYDC2 152138 broad.mit.edu 37 3 191179054 191179054 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr3:191179054C>A ENST00000518817.1 + 1 103 c.103C>A c.(103-105)Ctg>Atg p.L35M NM_001083308.1 NP_001076777.1 Q56P42 PYDC2_HUMAN pyrin domain containing 2 35 DAPIN. cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 AACAATCTCCCTGGGAAAGGA 0.537000 10 96 7.48243e-07 3.95945e-06 0.000442599 1 0 CDK11B 984 broad.mit.edu 37 1 1573143 1573143 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:1573143G>T ENST00000407249.3 - 14 1453 c.1454C>A c.(1453-1455)cCc>cAc p.P485H CDK11B_ENST00000340677.5_Missense_Mutation_p.P472H|CDK11B_ENST00000341832.6_Missense_Mutation_p.P438H|CDK11B_ENST00000317673.7_Missense_Mutation_p.P483H P21127 CD11B_HUMAN cyclin-dependent kinase 11B 495 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 GACGATGTTGGGATGCTGGGC 0.607000 21 222 1.28384e-07 6.86516e-07 0.00188189 1 0 ARHGEF16 27237 broad.mit.edu 37 1 3397090 3397090 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:3397090G>A ENST00000378378.4 + 15 2474 c.2069G>A c.(2068-2070)cGt>cAt p.R690H ARHGEF16_ENST00000378371.2_Missense_Mutation_p.R402H|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.R402H|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.R394H NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 690 activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) ATCACCAGCCGTGTGGCCGTG 0.677000 6 49 0 0 0.00116845 0 0 ASPN 54829 broad.mit.edu 37 9 95236914 95236914 + Nonsense_Mutation SNP G G C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr9:95236914G>C ENST00000375544.3 - 2 509 c.266C>G c.(265-267)tCa>tGa p.S89* ASPN_ENST00000395538.3_Nonsense_Mutation_p.S89*|ASPN_ENST00000375543.1_Nonsense_Mutation_p.S89*|ASPN_ENST00000450139.2_Nonsense_Mutation_p.S61*|CENPP_ENST00000375587.3_Intron NM_017680.4 NP_060150.4 Q9BXN1 ASPN_HUMAN asporin 89 Cys-rich.|LRRNT. bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding p.S89*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 ACCTAAATCTGAGCAATGTAC 0.323000 4 26 0 0 0.000602214 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348419 89348419 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr16:89348419G>A ENST00000301030.4 - 9 4991 c.4531C>T c.(4531-4533)Ccc>Tcc p.P1511S ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1511S NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1511 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) AGCACGCGGGGCGGGCTGTCC 0.632000 4 66 0 0 0.000602214 0 0 BCKDHB 594 broad.mit.edu 37 6 80878708 80878708 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr6:80878708G>A ENST00000545529.1 + 5 622 c.594G>A c.(592-594)caG>caA p.Q198Q BCKDHB_ENST00000369760.4_Silent_p.Q198Q|BCKDHB_ENST00000356489.5_Silent_p.Q198Q|BCKDHB_ENST00000320393.6_Silent_p.Q198Q P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 198 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) ATCATTCTCAGAGTCCTGAAG 0.423000 7 81 0 0 0.00198382 0 0 CHST12 55501 broad.mit.edu 37 7 2472309 2472309 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:2472309T>G ENST00000258711.6 + 2 170 c.35T>G c.(34-36)gTg>gGg p.V12G NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 12 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding p.V12G(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CTGTGGCTGGTGCTGGGGTCG 0.662000 8 55 0 0 0.00136819 0 0 C1orf177 163747 broad.mit.edu 37 1 55279519 55279519 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:55279519G>T ENST00000358193.3 + 7 849 c.795G>T c.(793-795)aaG>aaT p.K265N C1orf177_ENST00000371273.3_Missense_Mutation_p.K265N NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 265 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 TGAATTTCAAGAGCTTTGTAG 0.413000 6 60 0.00116845 0.00576282 0.00116845 1 0 AP3D1 8943 broad.mit.edu 37 19 2121250 2121250 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:2121250C>T ENST00000355272.6 - 13 1368 c.1162G>A c.(1162-1164)Gag>Aag p.E388K AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Missense_Mutation_p.E219K|AP3D1_ENST00000345016.5_Missense_Mutation_p.E388K|AP3D1_ENST00000356926.4_Missense_Mutation_p.E297K NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 388 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGTACCCTCTGCCTTGTCT 0.542000 6 69 0 0 0.00198382 0 0 HIST1H2BF 8343 broad.mit.edu 37 6 26199851 26199851 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr6:26199851C>T ENST00000359985.1 + 1 104 c.65C>T c.(64-66)gCg>gTg p.A22V NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 22 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) GTGACCAAGGCGCAGAAGAAG 0.517000 23 117 0 0 0.00229938 0 0 STK33 65975 broad.mit.edu 37 11 8414255 8414255 + Silent SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr11:8414255A>C ENST00000447869.1 - 12 2265 c.1347T>G c.(1345-1347)tcT>tcG p.S449S STK33_ENST00000534493.1_Silent_p.S408S|STK33_ENST00000315204.1_Silent_p.S449S|STK33_ENST00000396673.1_Silent_p.S383S|STK33_ENST00000396672.1_Silent_p.S449S|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Silent_p.S262S Q9BYT3 STK33_HUMAN serine/threonine kinase 33 449 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) CATAAGCAGTAGACTGCAAAT 0.378000 28 49 0 0 0.000878237 0 0 HEATR5B 54497 broad.mit.edu 37 2 37284598 37284598 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr2:37284598T>G ENST00000233099.5 - 15 2180 c.2085A>C c.(2083-2085)gaA>gaC p.E695D HEATR5B_ENST00000354531.2_Missense_Mutation_p.E695D NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 695 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) CCGCTACCAGTTCTCTAAGAA 0.363000 6 23 0 0 0.00116845 0 0 PRKAA2 5563 broad.mit.edu 37 1 57140142 57140142 + Silent SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:57140142A>C ENST00000371244.4 + 2 249 c.183A>C c.(181-183)atA>atC p.I61I NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 61 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TTGGAAAAATAAAACGAGAAA 0.294000 18 62 0 0 0.000958276 0 0 TOP2A 7153 broad.mit.edu 37 17 38552685 38552685 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:38552685T>G ENST00000423485.1 - 28 3728 c.3570A>C c.(3568-3570)caA>caC p.Q1190H NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 1190 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GAAGTCCGACTTGTTCATCTT 0.413000 12 108 0 0 0.00136819 0 0 SMTN 6525 broad.mit.edu 37 22 31491537 31491537 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr22:31491537C>A ENST00000333137.7 + 13 2021 c.1803C>A c.(1801-1803)gaC>gaA p.D601E SMTN_ENST00000404574.1_Missense_Mutation_p.D200E|SMTN_ENST00000358743.1_Missense_Mutation_p.D601E|SMTN_ENST00000347557.2_Missense_Mutation_p.D601E NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 601 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 AGAGCACGGACTTTGAAGAGC 0.577000 15 37 3.27435e-08 1.76954e-07 0.00244969 1 0 STK39 27347 broad.mit.edu 37 2 169020294 169020294 + Missense_Mutation SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr2:169020294A>C ENST00000355999.4 - 4 1232 c.527T>G c.(526-528)gTt>gGt p.V176G NM_013233.2 NP_037365.2 Q9UEW8 STK39_HUMAN serine threonine kinase 39 176 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 GCCTTCCAAAACCTCTTTAAG 0.363000 5 50 0 0 0.00198382 0 0 SRPRB 58477 broad.mit.edu 37 3 133538447 133538447 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr3:133538447C>A ENST00000466490.2 + 8 938 c.653C>A c.(652-654)tCc>tAc p.S218Y NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 218 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 CTGGACAGTTCCAGCACTGCC 0.517000 7 71 0.000673444 0.00338722 0.000673444 1 0 PPOX 5498 broad.mit.edu 37 1 161140306 161140306 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:161140306G>A ENST00000367999.4 + 10 1361 c.1095G>A c.(1093-1095)gtG>gtA p.V365V PPOX_ENST00000352210.5_Silent_p.V365V|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Silent_p.V110V|PPOX_ENST00000535223.1_Intron NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 365 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCCTCAGAGTGACTGTGAGGA 0.542000 10 66 0 0 0.000442599 0 0 THSD7A 221981 broad.mit.edu 37 7 11468652 11468652 + Silent SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:11468652C>G ENST00000423059.3 - 14 3416 c.3165G>C c.(3163-3165)gtG>gtC p.V1055V AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1055 TSP type-1 11. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AACGAACCTTCACACCACTCC 0.517000 HNSCC(18;0.044) 17 317 0 0 0.00400662 0 0 OR4C6 219432 broad.mit.edu 37 11 55433284 55433284 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr11:55433284G>A ENST00000314259.3 + 1 671 c.642G>A c.(640-642)gcG>gcA p.A214A NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TCTTAATTGCGTCCTACACGG 0.517000 30 86 0 0 0.00127121 0 0 PDE6C 5146 broad.mit.edu 37 10 95386572 95386572 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr10:95386572G>T ENST00000371447.3 + 7 1153 c.1015G>T c.(1015-1017)Gca>Tca p.A339S NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 339 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) GACGCCTCCTGCAGACCACTG 0.378000 6 39 8.12818e-05 0.000421339 0.00198382 1 0 RASAL1 8437 broad.mit.edu 37 12 113537802 113537802 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr12:113537802C>A ENST00000546530.1 - 22 2638 c.2353G>T c.(2353-2355)Gat>Tat p.D785Y RASAL1_ENST00000548055.1_Missense_Mutation_p.D784Y|RASAL1_ENST00000446861.3_Missense_Mutation_p.D755Y|RASAL1_ENST00000261729.5_Missense_Mutation_p.D783Y NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 783 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 TGGGCACGATCCAGGTCTGCG 0.677000 13 34 5.50884e-06 2.88504e-05 0.00136819 1 0 MYH2 4620 broad.mit.edu 37 17 10447033 10447033 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:10447033G>A ENST00000245503.5 - 8 1120 c.736C>T c.(736-738)Cgc>Tgc p.R246C MYH2_ENST00000532183.1_Missense_Mutation_p.R246C|MYH2_ENST00000397183.2_Missense_Mutation_p.R246C|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 246 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTTACAAAGCGAGAGGAGTTG 0.448000 6 54 0 0 0.00116845 0 0 PDE3A 5139 broad.mit.edu 37 12 20832977 20832977 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr12:20832977C>G ENST00000359062.3 + 16 3238 c.3198C>G c.(3196-3198)ttC>ttG p.F1066L PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 1066 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) AGAAGACTTTCAAAAGGAGAA 0.358000 7 57 0 0 0.00198382 0 0 USP33 23032 broad.mit.edu 37 1 78194375 78194375 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:78194375C>T ENST00000370793.1 - 11 1179 c.833G>A c.(832-834)tGt>tAt p.C278Y USP33_ENST00000370792.3_Missense_Mutation_p.C278Y|USP33_ENST00000357428.1_Missense_Mutation_p.C278Y|USP33_ENST00000370794.3_Missense_Mutation_p.C247Y NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 278 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 ATCCATTAAACATCGAAGGAA 0.353000 28 50 0 0 0.00106085 0 0 OR2T27 403239 broad.mit.edu 37 1 248814121 248814121 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:248814121C>T ENST00000344889.3 - 1 64 c.65G>A c.(64-66)cGt>cAt p.R22H NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCAGGGGAAACGGGCGTTGCT 0.483000 13 86 0 0 0.00136819 0 0 HEATR1 55127 broad.mit.edu 37 1 236760193 236760193 + Silent SNP T T C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:236760193T>C ENST00000366582.3 - 6 801 c.687A>G c.(685-687)gtA>gtG p.V229V HEATR1_ENST00000366581.2_Silent_p.V229V|HEATR1_ENST00000483073.1_5'UTR NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 229 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CCTCTGCAGCTACCAGCGCCG 0.448000 10 80 0 0 0.000978159 0 0 LAMA1 284217 broad.mit.edu 37 18 7043287 7043287 + Missense_Mutation SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr18:7043287A>C ENST00000389658.3 - 8 1187 c.1094T>G c.(1093-1095)tTg>tGg p.L365W NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 365 Laminin EGF-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTGTTCTGCAAGCAATTTAT 0.388000 58 145 0 0 0.00361006 0 0 TRGV2 6974 broad.mit.edu 37 7 38402707 38402707 + RNA SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:38402707C>T ENST00000426402.2 - 0 301 CAAGTGATTTCAGCAGATGAC 0.483000 7 100 0 0 0.00198382 0 0 CPA4 51200 broad.mit.edu 37 7 129948151 129948151 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:129948151G>T ENST00000222482.4 + 8 735 c.707G>T c.(706-708)cGa>cTa p.R236L CPA4_ENST00000445470.2_Missense_Mutation_p.R203L|CPA4_ENST00000493259.1_Missense_Mutation_p.R132L NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 236 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) TTTCAGAACCGATTATGGAGG 0.557000 18 44 6.94344e-10 3.83399e-09 0.00074312 1 0 USH2A 7399 broad.mit.edu 37 1 216380633 216380633 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:216380633C>G ENST00000366943.2 - 16 3684 c.3298G>C c.(3298-3300)Gag>Cag p.E1100Q USH2A_ENST00000307340.3_Missense_Mutation_p.E1100Q|USH2A_ENST00000366942.3_Missense_Mutation_p.E1100Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1100 Fibronectin type-III 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TATTGATCCTCTGTTGTGTAG 0.373000 HNSCC(13;0.011) 9 48 0 0 0.000274275 0 0 TNKS2 80351 broad.mit.edu 37 10 93602105 93602105 + Silent SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr10:93602105C>T ENST00000371627.4 + 16 2395 c.2016C>T c.(2014-2016)tgC>tgT p.C672C NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 672 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) ATGTAAATTGCCGCGATACCC 0.418000 4 44 0 0 0.00024832 0 0 ACO2 50 broad.mit.edu 37 22 41919936 41919936 + Silent SNP G G A rs148997312 TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr22:41919936G>A ENST00000396512.3 + 12 1565 c.1548G>A c.(1546-1548)acG>acA p.T516T ACO2_ENST00000216254.4_Silent_p.T491T Q99798 ACON_HUMAN aconitase 2, mitochondrial 491 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 CCTTTGTCACGTCCCCAGAGG 0.617000 9 33 0 0 0.000274275 0 0 CYB561A3 220002 broad.mit.edu 37 11 61124075 61124075 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr11:61124075C>A ENST00000546151.1 - 3 379 c.111G>T c.(109-111)tgG>tgT p.W37C CYB561A3_ENST00000447532.2_Missense_Mutation_p.W37C|CYB561A3_ENST00000544118.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000294072.4_Missense_Mutation_p.W37C|CYB561A3_ENST00000539890.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000536915.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000426130.2_Missense_Mutation_p.W54C cytochrome b561 family, member A3 TGCTGCCATTCCAGGCAAAGC 0.547000 20 90 2.37509e-13 1.35567e-12 0.00152264 1 0 ZNF823 55552 broad.mit.edu 37 19 11832973 11832973 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:11832973T>G ENST00000341191.6 - 4 1529 c.1376A>C c.(1375-1377)cAa>cCa p.Q459P ZNF823_ENST00000545749.1_Missense_Mutation_p.Q277P NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 CTCATGATTTTGAAAGGAAGA 0.423000 HNSCC(68;0.2) 6 104 0 0 0.00116845 0 0 MUC20 200958 broad.mit.edu 37 3 195447901 195447901 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr3:195447901C>G ENST00000320736.6 + 1 149 c.23C>G c.(22-24)gCt>gGt p.A8G MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000447234.2_Missense_Mutation_p.A8G|MUC20_ENST00000436408.1_Missense_Mutation_p.A8G NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 8 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TGGGGTCTGGCTCTGCCCCTT 0.617000 2 7 0 0 6.4e-05 0 0 GPS1 2873 broad.mit.edu 37 17 80013938 80013938 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:80013938G>A ENST00000392358.2 + 8 1365 c.1016G>A c.(1015-1017)cGg>cAg p.R339Q GPS1_ENST00000306823.6_Missense_Mutation_p.R303Q|GPS1_ENST00000578552.1_Missense_Mutation_p.R299Q|GPS1_ENST00000355130.2_Missense_Mutation_p.R339Q|GPS1_ENST00000320548.4_Missense_Mutation_p.R283Q NM_212492.1 NP_997657.1 Q13098 CSN1_HUMAN G protein pathway suppressor 1 303 PCI. cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) ACCTTTGACCGGCAGGAGCTG 0.657000 4 29 0 0 0.00024832 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 44 0 0 0.000602214 0 0 MYH7 4625 broad.mit.edu 37 14 23887505 23887505 + Silent SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr14:23887505A>C ENST00000355349.3 - 30 4245 c.4083T>G c.(4081-4083)ctT>ctG p.L1361L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1361 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.L1361L(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGGCCTTGGAAAGGACGCGCT 0.652000 3 85 0 0 6.4e-05 0 0 NEIL1 79661 broad.mit.edu 37 15 75641409 75641409 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr15:75641409G>A ENST00000564784.1 + 3 792 c.163G>A c.(163-165)Gag>Aag p.E55K NEIL1_ENST00000569035.1_Missense_Mutation_p.E55K|NEIL1_ENST00000355059.4_Missense_Mutation_p.E55K|NEIL1_ENST00000567959.1_Intron Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 (E. coli) 55 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1) 13 CCGCGGCAAGGAGCTGCGCCT 0.647000 Base excision repair (BER), DNA glycosylases 4 49 0 0 0.00024832 0 0 NCAN 1463 broad.mit.edu 37 19 19334919 19334919 + Missense_Mutation SNP A A G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:19334919A>G ENST00000252575.5 + 4 608 c.565A>G c.(565-567)Att>Gtt p.I189V NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 189 Link 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CTCAGCCATCATTGCAGCCCC 0.602000 21 45 0 0 0.00152264 0 0 SLC26A1 10861 broad.mit.edu 37 4 985266 985266 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr4:985266C>A ENST00000361661.2 - 3 603 c.226G>T c.(226-228)Ggg>Tgg p.G76W SLC26A1_ENST00000398520.2_Missense_Mutation_p.G76W|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G76W NM_213613.2 NP_998778.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 76 integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ATGACCAGCCCAGACATGACG 0.662000 5 88 0.000602214 0.00305925 0.000602214 1 0 CACNA1C 775 broad.mit.edu 37 12 2224421 2224421 + Missense_Mutation SNP T T A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr12:2224421T>A ENST00000399655.1 + 2 346 c.81T>A c.(79-81)caT>caA p.H27Q CACNA1C_ENST00000406454.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000480911.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.H27Q NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 27 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCCCCGCCCATGCCAACATGA 0.622000 6 9 0 0 0.00307968 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432406 140432406 + Missense_Mutation SNP A A T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr5:140432406A>T ENST00000306549.3 + 1 1428 c.1351A>T c.(1351-1353)Ata>Tta p.I451L NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 451 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATCCTCCAATATTTCGGGA 0.423000 9 60 0 0 0.000442599 0 0 AXIN2 8313 broad.mit.edu 37 17 63526139 63526139 + Silent SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr17:63526139C>T ENST00000307078.5 - 11 2800 c.2487G>A c.(2485-2487)ccG>ccA p.P829P AXIN2_ENST00000375702.5_Silent_p.P764P NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 829 DIX. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 CTTCATACATCGGGAGCACCG 0.507000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 15 88 0 0 0.00316338 0 0 CTNNA2 1496 broad.mit.edu 37 2 80816531 80816531 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr2:80816531T>G ENST00000466387.1 + 19 2834 c.2110T>G c.(2110-2112)Tgg>Ggg p.W704G CTNNA2_ENST00000361291.4_Missense_Mutation_p.W738G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.W704G|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.W383G|CTNNA2_ENST00000402739.4_Missense_Mutation_p.W704G|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.W704G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.W704G|AC008067.2_ENST00000595478.1_RNA P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 704 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AGTGGCCAAATGGGACGACAG 0.498000 9 81 0 0 0.000274275 0 0 ETV6 2120 broad.mit.edu 37 12 12022466 12022466 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr12:12022466G>A ENST00000396373.4 + 5 846 c.572G>A c.(571-573)cGg>cAg p.R191Q NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 191 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) ACAAATCACCGGCCTTCTCCT 0.642000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 56 336 0 0 0.00361006 0 0 PSG8 440533 broad.mit.edu 37 19 43259212 43259212 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:43259212C>T ENST00000404209.4 - 4 1012 c.916G>A c.(916-918)Gga>Aga p.G306R PSG8_ENST00000406636.3_Missense_Mutation_p.G184R|PSG8_ENST00000306511.4_Missense_Mutation_p.G306R|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.G213R NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 306 Ig-like C2-type 2. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TGATAGGGTCCTGTTTCATTT 0.498000 46 206 0 0 0.00361006 0 0 STXBP4 252983 broad.mit.edu 37 17 53158448 53158448 + Missense_Mutation SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr17:53158448A>C ENST00000376352.2 + 16 1600 c.1393A>C c.(1393-1395)Aca>Cca p.T465P STXBP4_ENST00000434978.2_Missense_Mutation_p.T443P NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 465 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 GACTTCCCTCACACCACTGGG 0.393000 4 47 0 0 0.00024832 0 0 C10orf95 79946 broad.mit.edu 37 10 104210810 104210810 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr10:104210810C>T ENST00000239125.1 - 2 252 c.178G>A c.(178-180)Ggc>Agc p.G60S RP11-18I14.10_ENST00000596366.1_RNA|RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000594818.1_RNA NM_024886.1 NP_079162.1 Q9H7T3 CJ095_HUMAN chromosome 10 open reading frame 95 60 Arg/Pro-rich. liver(1) 1 Colorectal(252;0.207) Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213) CGGCGGCGGCCAGACGCCCTG 0.716000 7 16 0 0 0.00307968 0 0 DCC 1630 broad.mit.edu 37 18 50977000 50977000 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr18:50977000T>G ENST00000442544.2 + 23 3976 c.3360T>G c.(3358-3360)atT>atG p.I1120M DCC_ENST00000581580.1_Missense_Mutation_p.I755M NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1120 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGGCTGTGATTTGCACCCGAC 0.488000 6 36 0 0 0.00116845 0 0 ALG1 56052 broad.mit.edu 37 16 5127458 5127458 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr16:5127458C>A ENST00000588623.1 + 6 1319 c.219C>A c.(217-219)ttC>ttA p.F73L ALG1_ENST00000544428.1_Missense_Mutation_p.F73L|ALG1_ENST00000262374.5_Missense_Mutation_p.F184L Q9BT22 ALG1_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 184 dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) ACGAGAAGTTCTTTGGGCGCC 0.552000 19 100 1.01871e-10 5.84547e-10 0.00121646 1 0 KIAA1024 23251 broad.mit.edu 37 15 79750590 79750590 + Nonsense_Mutation SNP A A T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr15:79750590A>T ENST00000305428.3 + 2 2176 c.2101A>T c.(2101-2103)Aaa>Taa p.K701* NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 701 integral to membrane p.K701*(1) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 GGCCTTAAAAAAAAGCCTCTT 0.552000 12 108 0 0 0.000978159 0 0 STRADA 92335 broad.mit.edu 37 17 61781730 61781730 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr17:61781730C>A ENST00000392950.4 - 9 1233 c.960G>T c.(958-960)gaG>gaT p.E320D STRADA_ENST00000375840.4_Missense_Mutation_p.E299D|STRADA_ENST00000245865.5_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.E357D|STRADA_ENST00000582137.1_Intron|STRADA_ENST00000447001.3_Intron NM_001003786.2|NM_001165969.1|NM_153335.5 NP_001003786.1|NP_001159441.1|NP_699166.2 Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha 357 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2) 13 GAAGGCACTGCTCCACAAAGT 0.662000 4 25 0.00116845 0.00586657 0.00116845 1 0 DIS3 22894 broad.mit.edu 37 13 73346872 73346872 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr13:73346872G>A ENST00000377767.4 - 9 1445 c.1345C>T c.(1345-1347)Ctt>Ttt p.L449F DIS3_ENST00000377780.4_Missense_Mutation_p.L419F|DIS3_ENST00000545453.1_Missense_Mutation_p.L287F NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 449 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) AGAAAACTAAGAACAGCCTGT 0.363000 Multiple Myeloma(4;0.011) 4 98 0 0 0.000602214 0 0 SNHG12 85028 broad.mit.edu 37 1 28906300 28906300 + RNA SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr1:28906300C>A ENST00000488745.1 - 0 1170 SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000531126.1_RNA AGCCCACATGCCATATACCAG 0.433000 21 65 1.22574e-08 6.86983e-08 0.00229938 1 0 STK33 65975 broad.mit.edu 37 11 8414255 8414255 + Silent SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr11:8414255A>C ENST00000447869.1 - 12 2265 c.1347T>G c.(1345-1347)tcT>tcG p.S449S STK33_ENST00000534493.1_Silent_p.S408S|STK33_ENST00000396672.1_Silent_p.S449S|STK33_ENST00000396673.1_Silent_p.S383S|STK33_ENST00000358872.3_Silent_p.S262S|STK33_ENST00000315204.1_Silent_p.S449S|STK33_ENST00000473980.1_5'UTR Q9BYT3 STK33_HUMAN serine/threonine kinase 33 449 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) CATAAGCAGTAGACTGCAAAT 0.378000 28 49 0 0 0.000878237 0 0 UNC93A 54346 broad.mit.edu 37 6 167721317 167721317 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr6:167721317C>T ENST00000230256.3 + 7 1202 c.1027C>T c.(1027-1029)Cgt>Tgt p.R343C UNC93A_ENST00000366829.2_Missense_Mutation_p.R301C NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 343 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GTGGAGACCTCGTGCTGACCA 0.617000 7 63 0 0 0.00198382 0 0 PKD1 5310 broad.mit.edu 37 16 2159543 2159543 + Silent SNP G G C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr16:2159543G>C ENST00000262304.4 - 15 5833 c.5625C>G c.(5623-5625)gtC>gtG p.V1875V PKD1_ENST00000423118.1_Silent_p.V1875V NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1875 PKD 14. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ACGTGGCTGAGACCCAGCTGA 0.652000 8 13 0 0 0.000274275 0 0 GLOD5 392465 broad.mit.edu 37 X 48629492 48629492 + Silent SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chrX:48629492C>T ENST00000303227.6 + 3 392 c.351C>T c.(349-351)caC>caT p.H117H GLOD5_ENST00000470676.1_3'UTR NM_001080489.2 NP_001073958.2 glyoxalase domain containing 5 endometrium(1)|lung(2) 3 TGATCCAGCACCTCAAGGTGA 0.483000 18 10 0 0 0.00074312 0 0 PCCA 5095 broad.mit.edu 37 13 100861712 100861712 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr13:100861712G>A ENST00000376285.1 + 7 633 c.595G>A c.(595-597)Gtc>Atc p.V199I PCCA_ENST00000376286.4_Missense_Mutation_p.V173I|PCCA_ENST00000376279.3_Missense_Mutation_p.V199I NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 199 ATP-grasp.|Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TGATGGAGTAGTCAAGGTGAG 0.338000 10 63 0 0 0.000673444 0 0 ZRANB3 84083 broad.mit.edu 37 2 135965229 135965229 + Silent SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr2:135965229C>T ENST00000401392.1 - 19 2990 c.2778G>A c.(2776-2778)gcG>gcA p.A926A ZRANB3_ENST00000536680.1_Silent_p.A926A|ZRANB3_ENST00000264159.6_Silent_p.A928A|ZRANB3_ENST00000412849.1_5'UTR Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 928 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) CCCAAGAGTTCGCTTTACATG 0.428000 28 194 0 0 0.000720815 0 0 CILP2 148113 broad.mit.edu 37 19 19655256 19655256 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr19:19655256G>A ENST00000586018.1 + 8 2022 c.1920G>A c.(1918-1920)ctG>ctA p.L640L CILP2_ENST00000291495.4_Silent_p.L634L Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 634 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 ACGGCGAGCTGGCTCCACTGC 0.736000 7 123 0 0 0.000274275 0 0 CYB561A3 220002 broad.mit.edu 37 11 61124075 61124075 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr11:61124075C>A ENST00000546151.1 - 3 379 c.111G>T c.(109-111)tgG>tgT p.W37C CYB561A3_ENST00000539890.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000426130.2_Missense_Mutation_p.W54C|CYB561A3_ENST00000544118.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000536915.1_Missense_Mutation_p.W37C|CYB561A3_ENST00000294072.4_Missense_Mutation_p.W37C|CYB561A3_ENST00000447532.2_Missense_Mutation_p.W37C cytochrome b561 family, member A3 TGCTGCCATTCCAGGCAAAGC 0.547000 20 90 2.37509e-13 1.39609e-12 0.00152264 1 0 RRP7BP 91695 broad.mit.edu 37 22 42971987 42971987 + RNA SNP T T C rs137064 by1000genomes TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr22:42971987T>C ENST00000357802.2 - 0 733 p.Q59R(1) CAGCTCTTTTTGGCTGCGCTT 0.672000 3 23 0 0 6.4e-05 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 4 37 0 0 0.00024832 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 3 6 0 0 6.4e-05 0 0 ABCC9 10060 broad.mit.edu 37 12 21967641 21967641 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr12:21967641G>A ENST00000261200.4 - 33 4038 c.4039C>T c.(4039-4041)Cgc>Tgc p.R1347C ABCC9_ENST00000345162.2_Missense_Mutation_p.R1311C|ABCC9_ENST00000261201.4_Missense_Mutation_p.R1347C NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1347 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTGCCAGTGCGACCACATATG 0.388000 8 47 0 0 0.000442599 0 0 DOPEY1 23033 broad.mit.edu 37 6 83834513 83834513 + Missense_Mutation SNP A A T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr6:83834513A>T ENST00000349129.2 + 13 1690 c.1430A>T c.(1429-1431)gAt>gTt p.D477V DOPEY1_ENST00000369739.3_Missense_Mutation_p.D468V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.D468V NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 477 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TTACTGGTGGATTTTTTGTTG 0.393000 26 57 0 0 0.000878237 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734913 12734913 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chrX:12734913G>A ENST00000380682.1 + 15 2841 c.2335G>A c.(2335-2337)Gac>Aac p.D779N NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 779 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 GTCAAGCGATGACATCATTGA 0.592000 9 100 0 0 0.000673444 0 0 RNF40 9810 broad.mit.edu 37 16 30779808 30779808 + Silent SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr16:30779808C>A ENST00000324685.6 + 13 2371 c.1936C>A c.(1936-1938)Cgg>Agg p.R646R RNF40_ENST00000357890.5_Silent_p.R546R|RNF40_ENST00000563683.1_Silent_p.R606R|RNF40_ENST00000402121.3_Silent_p.R338R NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 646 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) AGAAACCAAGCGGAAGGAATC 0.597000 4 75 0.00024832 0.00130098 0.00024832 1 0 CYB561A3 220002 broad.mit.edu 37 11 61124072 61124072 + Missense_Mutation SNP A A T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr11:61124072A>T ENST00000546151.1 - 3 382 c.114T>A c.(112-114)aaT>aaA p.N38K CYB561A3_ENST00000539890.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000426130.2_Missense_Mutation_p.N55K|CYB561A3_ENST00000544118.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000536915.1_Missense_Mutation_p.N38K|CYB561A3_ENST00000294072.4_Missense_Mutation_p.N38K|CYB561A3_ENST00000447532.2_Missense_Mutation_p.N38K cytochrome b561 family, member A3 AGATGCTGCCATTCCAGGCAA 0.547000 24 91 0 0 0.00332997 0 0 TEK 7010 broad.mit.edu 37 9 27220088 27220088 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr9:27220088G>A ENST00000380036.4 + 21 3587 c.3145G>A c.(3145-3147)Gag>Aag p.E1049K TEK_ENST00000519097.1_Missense_Mutation_p.E901K|TEK_ENST00000406359.4_Missense_Mutation_p.E1006K NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 1049 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) AGAACTCTACGAGAAGCTGCC 0.532000 6 96 0 0 0.000274275 0 0 FAM110B 90362 broad.mit.edu 37 8 59059406 59059406 + Missense_Mutation SNP T T C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr8:59059406T>C ENST00000361488.3 + 5 1497 c.617T>C c.(616-618)gTg>gCg p.V206A FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 206 microtubule organizing center|mitochondrion|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) ATCCGCAAGGTGACCAGCGTG 0.657000 11 72 0 0 0.00136819 0 0 QPCT 25797 broad.mit.edu 37 2 37599902 37599902 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr2:37599902G>A ENST00000338415.3 + 7 1176 c.1018G>A c.(1018-1020)Gat>Aat p.D340N QPCT_ENST00000537448.1_Missense_Mutation_p.D291N NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 340 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17 Ovarian(717;0.051)|all_hematologic(82;0.21) AGAAAATTTGGATGAATCAAC 0.358000 4 75 0 0 0.000602214 0 0 HTR4 3360 broad.mit.edu 37 5 147845444 147845444 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr5:147845444C>G ENST00000314512.6 - 7 1284 c.1121G>C c.(1120-1122)aGa>aCa p.R374T HTR4_ENST00000521735.1_Missense_Mutation_p.R374T|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron NM_199453.3 NP_955525.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 0 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) AGGAACTGGTCTATTGCAGAA 0.443000 5 144 0 0 0.000602214 0 0 MAN1C1 57134 broad.mit.edu 37 1 25944781 25944781 + Nonsense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr1:25944781C>T ENST00000374332.4 + 1 823 c.493C>T c.(493-495)Cag>Tag p.Q165* MAN1C1_ENST00000263979.3_5'UTR NM_020379.2 NP_065112.1 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 165 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) CGATGAGAGTCAGGAGCCCCA 0.637000 5 12 0 0 0.00116845 0 0 PAPPA2 60676 broad.mit.edu 37 1 176563958 176563958 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr1:176563958G>T ENST00000367662.3 + 3 2382 c.1218G>T c.(1216-1218)ttG>ttT p.L406F PAPPA2_ENST00000367661.3_Missense_Mutation_p.L406F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 406 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCCGCTCTTTGCTCCTGGGGG 0.587000 32 59 4.3181e-19 2.56954e-18 0.00283554 1 0 HTR3D 200909 broad.mit.edu 37 3 183754191 183754191 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr3:183754191G>T ENST00000382489.3 + 4 409 c.409G>T c.(409-411)Gct>Tct p.A137S HTR3D_ENST00000428798.2_Missense_Mutation_p.A76S|HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000334128.2_Missense_Mutation_p.A2S NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 137 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGGTCTCATGGCTAGTATGTC 0.507000 16 23 4.14922e-12 2.40955e-11 0.00400662 1 0 SULF1 23213 broad.mit.edu 37 8 70536227 70536227 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr8:70536227G>A ENST00000260128.4 + 15 2362 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K SULF1_ENST00000402687.4_Missense_Mutation_p.E549K|SULF1_ENST00000419716.3_Missense_Mutation_p.E549K|SULF1_ENST00000458141.2_Missense_Mutation_p.E549K|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 549 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CTTGTCCGTCGAATTTGAAGG 0.408000 11 63 0 0 0.000673444 0 0 CERKL 375298 broad.mit.edu 37 2 182414397 182414397 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr2:182414397G>A ENST00000410087.3 - 6 959 c.859C>T c.(859-861)Cct>Tct p.P287S CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374970.2_Missense_Mutation_p.P218S|CERKL_ENST00000339098.5_Missense_Mutation_p.P313S|CERKL_ENST00000374969.2_Missense_Mutation_p.P174S|CERKL_ENST00000409440.3_Missense_Mutation_p.P269S NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 313 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) ATCACATGAGGAACTCCATGA 0.343000 11 80 0 0 0.000673444 0 0 TRIM48 79097 broad.mit.edu 37 11 55032644 55032644 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr11:55032644G>A ENST00000417545.2 + 2 399 c.313G>A c.(313-315)Gag>Aag p.E105K NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 89 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CCTGAGCTCTGAGGAGCAAAT 0.483000 8 61 0 0 0.000274275 0 0 TRGV9 6983 broad.mit.edu 37 7 38356883 38356883 + RNA SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr7:38356883G>A ENST00000444775.2 - 0 1469 TTTTGACAGCGTTTTAGTACT 0.423000 10 76 0 0 0.000673444 0 0 OR14A16 284532 broad.mit.edu 37 1 247978414 247978414 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr1:247978414G>A ENST00000357627.1 - 1 617 c.618C>T c.(616-618)ttC>ttT p.F206F NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TAAAACAGCAGAAATCCAAAA 0.373000 4 50 0 0 0.00024832 0 0 KIAA2018 205717 broad.mit.edu 37 3 113378750 113378750 + Silent SNP G G C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr3:113378750G>C ENST00000316407.4 - 7 2189 c.1779C>G c.(1777-1779)ctC>ctG p.L593L KIAA2018_ENST00000478658.1_Silent_p.L593L|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 593 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GAGCAGGGAGGAGTGGCAAAG 0.473000 30 67 0 0 0.00178596 0 0 SRRT 51593 broad.mit.edu 37 7 100483362 100483362 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr7:100483362C>T ENST00000388793.4 + 11 1575 c.1355C>T c.(1354-1356)tCa>tTa p.S452L SRRT_ENST00000347433.4_Missense_Mutation_p.S453L|SRRT_ENST00000432932.1_Missense_Mutation_p.S452L|SRRT_ENST00000457580.2_Missense_Mutation_p.S453L NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 453 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GTGGCGCTCTCAGAGCCCCAG 0.537000 18 99 0 0 0.00074312 0 0 PYDC2 152138 broad.mit.edu 37 3 191179054 191179054 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr3:191179054C>A ENST00000518817.1 + 1 103 c.103C>A c.(103-105)Ctg>Atg p.L35M NM_001083308.1 NP_001076777.1 Q56P42 PYDC2_HUMAN pyrin domain containing 2 35 DAPIN. cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 AACAATCTCCCTGGGAAAGGA 0.537000 10 96 7.48243e-07 4.05228e-06 0.000442599 1 0 CDK11B 984 broad.mit.edu 37 1 1573143 1573143 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr1:1573143G>T ENST00000407249.3 - 14 1453 c.1454C>A c.(1453-1455)cCc>cAc p.P485H CDK11B_ENST00000341832.6_Missense_Mutation_p.P438H|CDK11B_ENST00000340677.5_Missense_Mutation_p.P472H|CDK11B_ENST00000317673.7_Missense_Mutation_p.P483H P21127 CD11B_HUMAN cyclin-dependent kinase 11B 495 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 GACGATGTTGGGATGCTGGGC 0.607000 21 222 1.28384e-07 7.03194e-07 0.00188189 1 0 ARHGEF16 27237 broad.mit.edu 37 1 3397090 3397090 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr1:3397090G>A ENST00000378378.4 + 15 2474 c.2069G>A c.(2068-2070)cGt>cAt p.R690H ARHGEF16_ENST00000378373.1_Missense_Mutation_p.R402H|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.R394H|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.R402H NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 690 activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) ATCACCAGCCGTGTGGCCGTG 0.677000 6 49 0 0 0.00116845 0 0 ASPN 54829 broad.mit.edu 37 9 95236914 95236914 + Nonsense_Mutation SNP G G C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr9:95236914G>C ENST00000375544.3 - 2 509 c.266C>G c.(265-267)tCa>tGa p.S89* CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Nonsense_Mutation_p.S89*|ASPN_ENST00000450139.2_Nonsense_Mutation_p.S61*|ASPN_ENST00000375543.1_Nonsense_Mutation_p.S89* NM_017680.4 NP_060150.4 Q9BXN1 ASPN_HUMAN asporin 89 Cys-rich.|LRRNT. bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding p.S89*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 ACCTAAATCTGAGCAATGTAC 0.323000 4 26 0 0 0.000602214 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348419 89348419 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr16:89348419G>A ENST00000301030.4 - 9 4991 c.4531C>T c.(4531-4533)Ccc>Tcc p.P1511S ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1511S NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1511 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) AGCACGCGGGGCGGGCTGTCC 0.632000 4 66 0 0 0.000602214 0 0 TP53 7157 broad.mit.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr17:7578534C>G ENST00000420246.2 - 5 528 c.396G>C c.(394-396)aaG>aaC p.K132N TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 132 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; 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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAAAACATCTTGTTGAGGG 0.562000 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) 17 15 0 0 0.00400662 0 0 BCKDHB 594 broad.mit.edu 37 6 80878708 80878708 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr6:80878708G>A ENST00000545529.1 + 5 622 c.594G>A c.(592-594)caG>caA p.Q198Q BCKDHB_ENST00000356489.5_Silent_p.Q198Q|BCKDHB_ENST00000320393.6_Silent_p.Q198Q|BCKDHB_ENST00000369760.4_Silent_p.Q198Q P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 198 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) ATCATTCTCAGAGTCCTGAAG 0.423000 7 81 0 0 0.00198382 0 0 C1orf177 163747 broad.mit.edu 37 1 55279519 55279519 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr1:55279519G>T ENST00000358193.3 + 7 849 c.795G>T c.(793-795)aaG>aaT p.K265N C1orf177_ENST00000371273.3_Missense_Mutation_p.K265N NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 265 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 TGAATTTCAAGAGCTTTGTAG 0.413000 6 60 0.00116845 0.00586657 0.00116845 1 0 AP3D1 8943 broad.mit.edu 37 19 2121250 2121250 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr19:2121250C>T ENST00000355272.6 - 13 1368 c.1162G>A c.(1162-1164)Gag>Aag p.E388K AP3D1_ENST00000350812.6_Missense_Mutation_p.E219K|AP3D1_ENST00000345016.5_Missense_Mutation_p.E388K|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000356926.4_Missense_Mutation_p.E297K NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 388 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGTACCCTCTGCCTTGTCT 0.542000 6 69 0 0 0.00198382 0 0 HIST1H2BF 8343 broad.mit.edu 37 6 26199851 26199851 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr6:26199851C>T ENST00000359985.1 + 1 104 c.65C>T c.(64-66)gCg>gTg p.A22V NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 22 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) GTGACCAAGGCGCAGAAGAAG 0.517000 23 117 0 0 0.00229938 0 0 HEATR5B 54497 broad.mit.edu 37 2 37284598 37284598 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr2:37284598T>G ENST00000233099.5 - 15 2180 c.2085A>C c.(2083-2085)gaA>gaC p.E695D HEATR5B_ENST00000354531.2_Missense_Mutation_p.E695D NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 695 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) CCGCTACCAGTTCTCTAAGAA 0.363000 6 23 0 0 0.00116845 0 0 PRKAA2 5563 broad.mit.edu 37 1 57140142 57140142 + Silent SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr1:57140142A>C ENST00000371244.4 + 2 249 c.183A>C c.(181-183)atA>atC p.I61I NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 61 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TTGGAAAAATAAAACGAGAAA 0.294000 18 62 0 0 0.000958276 0 0 TOP2A 7153 broad.mit.edu 37 17 38552685 38552685 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr17:38552685T>G ENST00000423485.1 - 28 3728 c.3570A>C c.(3568-3570)caA>caC p.Q1190H NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 1190 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GAAGTCCGACTTGTTCATCTT 0.413000 12 108 0 0 0.00136819 0 0 SMTN 6525 broad.mit.edu 37 22 31491537 31491537 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr22:31491537C>A ENST00000333137.7 + 13 2021 c.1803C>A c.(1801-1803)gaC>gaA p.D601E SMTN_ENST00000358743.1_Missense_Mutation_p.D601E|SMTN_ENST00000347557.2_Missense_Mutation_p.D601E|SMTN_ENST00000404574.1_Missense_Mutation_p.D200E NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 601 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 AGAGCACGGACTTTGAAGAGC 0.577000 15 37 3.27435e-08 1.81407e-07 0.00244969 1 0 STK39 27347 broad.mit.edu 37 2 169020294 169020294 + Missense_Mutation SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr2:169020294A>C ENST00000355999.4 - 4 1232 c.527T>G c.(526-528)gTt>gGt p.V176G NM_013233.2 NP_037365.2 Q9UEW8 STK39_HUMAN serine threonine kinase 39 176 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 GCCTTCCAAAACCTCTTTAAG 0.363000 5 50 0 0 0.00198382 0 0 SRPRB 58477 broad.mit.edu 37 3 133538447 133538447 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr3:133538447C>A ENST00000466490.2 + 8 938 c.653C>A c.(652-654)tCc>tAc p.S218Y NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 218 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 CTGGACAGTTCCAGCACTGCC 0.517000 7 71 0.000673444 0.00345319 0.000673444 1 0 PPOX 5498 broad.mit.edu 37 1 161140306 161140306 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr1:161140306G>A ENST00000367999.4 + 10 1361 c.1095G>A c.(1093-1095)gtG>gtA p.V365V PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Silent_p.V110V|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Silent_p.V365V NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 365 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCCTCAGAGTGACTGTGAGGA 0.542000 10 66 0 0 0.000442599 0 0 THSD7A 221981 broad.mit.edu 37 7 11468652 11468652 + Silent SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr7:11468652C>G ENST00000423059.3 - 14 3416 c.3165G>C c.(3163-3165)gtG>gtC p.V1055V AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1055 TSP type-1 11. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AACGAACCTTCACACCACTCC 0.517000 HNSCC(18;0.044) 17 317 0 0 0.00400662 0 0 OR4C6 219432 broad.mit.edu 37 11 55433284 55433284 + Silent SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr11:55433284G>A ENST00000314259.3 + 1 671 c.642G>A c.(640-642)gcG>gcA p.A214A NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TCTTAATTGCGTCCTACACGG 0.517000 30 86 0 0 0.00127121 0 0 PDE6C 5146 broad.mit.edu 37 10 95386572 95386572 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr10:95386572G>T ENST00000371447.3 + 7 1153 c.1015G>T c.(1015-1017)Gca>Tca p.A339S NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 339 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) GACGCCTCCTGCAGACCACTG 0.378000 6 39 8.12818e-05 0.000430526 0.00198382 1 0 RASAL1 8437 broad.mit.edu 37 12 113537802 113537802 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr12:113537802C>A ENST00000546530.1 - 22 2638 c.2353G>T c.(2353-2355)Gat>Tat p.D785Y RASAL1_ENST00000446861.3_Missense_Mutation_p.D755Y|RASAL1_ENST00000261729.5_Missense_Mutation_p.D783Y|RASAL1_ENST00000548055.1_Missense_Mutation_p.D784Y NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 783 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 TGGGCACGATCCAGGTCTGCG 0.677000 13 34 5.50884e-06 2.95029e-05 0.00136819 1 0 MYH2 4620 broad.mit.edu 37 17 10447033 10447033 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr17:10447033G>A ENST00000245503.5 - 8 1120 c.736C>T c.(736-738)Cgc>Tgc p.R246C MYH2_ENST00000397183.2_Missense_Mutation_p.R246C|MYH2_ENST00000532183.1_Missense_Mutation_p.R246C|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 246 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTTACAAAGCGAGAGGAGTTG 0.448000 6 54 0 0 0.00116845 0 0 PDE3A 5139 broad.mit.edu 37 12 20832977 20832977 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr12:20832977C>G ENST00000359062.3 + 16 3238 c.3198C>G c.(3196-3198)ttC>ttG p.F1066L PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 1066 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) AGAAGACTTTCAAAAGGAGAA 0.358000 7 57 0 0 0.00198382 0 0 USP33 23032 broad.mit.edu 37 1 78194375 78194375 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr1:78194375C>T ENST00000370793.1 - 11 1179 c.833G>A c.(832-834)tGt>tAt p.C278Y USP33_ENST00000370792.3_Missense_Mutation_p.C278Y|USP33_ENST00000357428.1_Missense_Mutation_p.C278Y|USP33_ENST00000370794.3_Missense_Mutation_p.C247Y NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 278 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 ATCCATTAAACATCGAAGGAA 0.353000 28 50 0 0 0.00106085 0 0 OR2T27 403239 broad.mit.edu 37 1 248814121 248814121 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr1:248814121C>T ENST00000344889.3 - 1 64 c.65G>A c.(64-66)cGt>cAt p.R22H NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCAGGGGAAACGGGCGTTGCT 0.483000 13 86 0 0 0.00136819 0 0 HEATR1 55127 broad.mit.edu 37 1 236760193 236760193 + Silent SNP T T C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr1:236760193T>C ENST00000366582.3 - 6 801 c.687A>G c.(685-687)gtA>gtG p.V229V HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Silent_p.V229V NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 229 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CCTCTGCAGCTACCAGCGCCG 0.448000 10 80 0 0 0.000978159 0 0 LAMA1 284217 broad.mit.edu 37 18 7043287 7043287 + Missense_Mutation SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr18:7043287A>C ENST00000389658.3 - 8 1187 c.1094T>G c.(1093-1095)tTg>tGg p.L365W NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 365 Laminin EGF-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTGTTCTGCAAGCAATTTAT 0.388000 58 145 0 0 0.00361006 0 0 TRGV2 6974 broad.mit.edu 37 7 38402707 38402707 + RNA SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr7:38402707C>T ENST00000426402.2 - 0 301 CAAGTGATTTCAGCAGATGAC 0.483000 7 100 0 0 0.00198382 0 0 CPA4 51200 broad.mit.edu 37 7 129948151 129948151 + Missense_Mutation SNP G G T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr7:129948151G>T ENST00000222482.4 + 8 735 c.707G>T c.(706-708)cGa>cTa p.R236L CPA4_ENST00000493259.1_Missense_Mutation_p.R132L|CPA4_ENST00000445470.2_Missense_Mutation_p.R203L NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 236 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) TTTCAGAACCGATTATGGAGG 0.557000 18 44 6.94344e-10 3.93734e-09 0.00074312 1 0 USH2A 7399 broad.mit.edu 37 1 216380633 216380633 + Missense_Mutation SNP C C G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr1:216380633C>G ENST00000366943.2 - 16 3684 c.3298G>C c.(3298-3300)Gag>Cag p.E1100Q USH2A_ENST00000366942.3_Missense_Mutation_p.E1100Q|USH2A_ENST00000307340.3_Missense_Mutation_p.E1100Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1100 Fibronectin type-III 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TATTGATCCTCTGTTGTGTAG 0.373000 HNSCC(13;0.011) 9 48 0 0 0.000274275 0 0 TNKS2 80351 broad.mit.edu 37 10 93602105 93602105 + Silent SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr10:93602105C>T ENST00000371627.4 + 16 2395 c.2016C>T c.(2014-2016)tgC>tgT p.C672C NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 672 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) ATGTAAATTGCCGCGATACCC 0.418000 4 44 0 0 0.00024832 0 0 ACO2 50 broad.mit.edu 37 22 41919936 41919936 + Silent SNP G G A rs148997312 TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr22:41919936G>A ENST00000396512.3 + 12 1565 c.1548G>A c.(1546-1548)acG>acA p.T516T ACO2_ENST00000216254.4_Silent_p.T491T Q99798 ACON_HUMAN aconitase 2, mitochondrial 491 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 CCTTTGTCACGTCCCCAGAGG 0.617000 9 33 0 0 0.000274275 0 0 ZNF823 55552 broad.mit.edu 37 19 11832973 11832973 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr19:11832973T>G ENST00000341191.6 - 4 1529 c.1376A>C c.(1375-1377)cAa>cCa p.Q459P ZNF823_ENST00000545749.1_Missense_Mutation_p.Q277P NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 CTCATGATTTTGAAAGGAAGA 0.423000 HNSCC(68;0.2) 6 104 0 0 0.00116845 0 0 GPS1 2873 broad.mit.edu 37 17 80013938 80013938 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr17:80013938G>A ENST00000392358.2 + 8 1365 c.1016G>A c.(1015-1017)cGg>cAg p.R339Q GPS1_ENST00000306823.6_Missense_Mutation_p.R303Q|GPS1_ENST00000578552.1_Missense_Mutation_p.R299Q|GPS1_ENST00000355130.2_Missense_Mutation_p.R339Q|GPS1_ENST00000320548.4_Missense_Mutation_p.R283Q NM_212492.1 NP_997657.1 Q13098 CSN1_HUMAN G protein pathway suppressor 1 303 PCI. cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) ACCTTTGACCGGCAGGAGCTG 0.657000 4 29 0 0 0.00024832 0 0 MYH7 4625 broad.mit.edu 37 14 23887505 23887505 + Silent SNP A A C TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr14:23887505A>C ENST00000355349.3 - 30 4245 c.4083T>G c.(4081-4083)ctT>ctG p.L1361L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1361 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.L1361L(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGGCCTTGGAAAGGACGCGCT 0.652000 3 85 0 0 6.4e-05 0 0 NEIL1 79661 broad.mit.edu 37 15 75641409 75641409 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr15:75641409G>A ENST00000564784.1 + 3 792 c.163G>A c.(163-165)Gag>Aag p.E55K NEIL1_ENST00000355059.4_Missense_Mutation_p.E55K|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000569035.1_Missense_Mutation_p.E55K Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 (E. coli) 55 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1) 13 CCGCGGCAAGGAGCTGCGCCT 0.647000 Base excision repair (BER), DNA glycosylases 4 49 0 0 0.00024832 0 0 NCAN 1463 broad.mit.edu 37 19 19334919 19334919 + Missense_Mutation SNP A A G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr19:19334919A>G ENST00000252575.5 + 4 608 c.565A>G c.(565-567)Att>Gtt p.I189V NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 189 Link 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CTCAGCCATCATTGCAGCCCC 0.602000 21 45 0 0 0.00152264 0 0 SLC26A1 10861 broad.mit.edu 37 4 985266 985266 + Missense_Mutation SNP C C A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr4:985266C>A ENST00000361661.2 - 3 603 c.226G>T c.(226-228)Ggg>Tgg p.G76W IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G76W|SLC26A1_ENST00000398520.2_Missense_Mutation_p.G76W|IDUA_ENST00000453894.1_Intron NM_213613.2 NP_998778.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 76 integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ATGACCAGCCCAGACATGACG 0.662000 5 88 0.000602214 0.00312115 0.000602214 1 0 CACNA1C 775 broad.mit.edu 37 12 2224421 2224421 + Missense_Mutation SNP T T A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr12:2224421T>A ENST00000399655.1 + 2 346 c.81T>A c.(79-81)caT>caA p.H27Q CACNA1C_ENST00000347598.4_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000480911.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.H27Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.H27Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.H27Q NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 27 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCCCCGCCCATGCCAACATGA 0.622000 6 9 0 0 0.00307968 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432406 140432406 + Missense_Mutation SNP A A T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr5:140432406A>T ENST00000306549.3 + 1 1428 c.1351A>T c.(1351-1353)Ata>Tta p.I451L NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 451 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATCCTCCAATATTTCGGGA 0.423000 9 60 0 0 0.000442599 0 0 AXIN2 8313 broad.mit.edu 37 17 63526139 63526139 + Silent SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr17:63526139C>T ENST00000307078.5 - 11 2800 c.2487G>A c.(2485-2487)ccG>ccA p.P829P AXIN2_ENST00000375702.5_Silent_p.P764P NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 829 DIX. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 CTTCATACATCGGGAGCACCG 0.507000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 15 88 0 0 0.00316338 0 0 CTNNA2 1496 broad.mit.edu 37 2 80816531 80816531 + Missense_Mutation SNP T T G TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr2:80816531T>G ENST00000466387.1 + 19 2834 c.2110T>G c.(2110-2112)Tgg>Ggg p.W704G AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.W704G|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.W704G|CTNNA2_ENST00000343114.3_Missense_Mutation_p.W383G|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.W704G|CTNNA2_ENST00000402739.4_Missense_Mutation_p.W704G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.W738G P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 704 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AGTGGCCAAATGGGACGACAG 0.498000 9 81 0 0 0.000274275 0 0 ETV6 2120 broad.mit.edu 37 12 12022466 12022466 + Missense_Mutation SNP G G A TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr12:12022466G>A ENST00000396373.4 + 5 846 c.572G>A c.(571-573)cGg>cAg p.R191Q NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 191 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) ACAAATCACCGGCCTTCTCCT 0.642000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 56 336 0 0 0.00361006 0 0 PSG8 440533 broad.mit.edu 37 19 43259212 43259212 + Missense_Mutation SNP C C T TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr19:43259212C>T ENST00000404209.4 - 4 1012 c.916G>A c.(916-918)Gga>Aga p.G306R PSG8_ENST00000401467.2_Missense_Mutation_p.G213R|PSG8_ENST00000306511.4_Missense_Mutation_p.G306R|PSG8_ENST00000406636.3_Missense_Mutation_p.G184R|PSG8_ENST00000600709.1_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 306 Ig-like C2-type 2. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TGATAGGGTCCTGTTTCATTT 0.498000 46 206 0 0 0.00361006 0 0 ESPNP 284729 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 4 8 --- --- --- --- CLSTN2 64084 broad.mit.edu 37 3 140167413 140167413 + Frame_Shift_Del DEL C C - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr3:140167413delC ENST00000458420.3 + 6 1030 c.840delC c.(838-840)ttfs p.F280fs NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 280 Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TGCCCCTGTTCCCCAGCATCC 0.537 HNSCC(16;0.037) 72 112 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000541751.1_5'UTR NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 18 1067 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97820131 97820132 + Frame_Shift_Del DEL AG AG - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:97820131_97820132delAG ENST00000297293.5 + 10 1383_1384 c.1090_1091delAG c.(1090-1092)afs p.R364fs NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 364 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCAAGTCATTAGAGAGAGAGAC 0.495 9 1358 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149488643 149488643 + RNA DEL C C - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr7:149488643delC ENST00000378016.2 + 0 5094 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGGCCTGGGGCCCCTGGAGCC 0.721 2 4 --- --- --- --- PTDSS1 9791 broad.mit.edu 37 8 97318687 97318687 + Frame_Shift_Del DEL A A - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr8:97318687delA ENST00000517309.1 + 8 1236 c.910delA c.(910-912)ccfs p.T304fs PTDSS1_ENST00000455950.2_Frame_Shift_Del_p.T158fs|PTDSS1_ENST00000522072.1_Frame_Shift_Del_p.T101fs NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 304 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TGAGTTGAATACCTTCTTCTT 0.393 67 92 --- --- --- --- EIF4G2 1982 broad.mit.edu 37 11 10821256 10821260 + Frame_Shift_Del DEL CCTTT CCTTT - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr11:10821256_10821260delCCTTT ENST00000526148.1 - 19 2673_2677 c.2163_2167delAAAGG c.(2161-2169)gggafs p.GKG721fs EIF4G2_ENST00000396525.2_Frame_Shift_Del_p.GKG683fs|EIF4G2_ENST00000339995.5_Frame_Shift_Del_p.GKG721fs|EIF4G2_ENST00000525681.1_Frame_Shift_Del_p.GKG721fs|RP11-685M7.5_ENST00000532365.1_RNA NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 721 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AAACTCAGTCCCTTTCCTTCCAAAA 0.385 10 46 --- --- --- --- CTD-2313N18.8 0 broad.mit.edu 37 11 71574635 71574635 + RNA DEL A A - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr11:71574635delA ENST00000528518.1 + 0 168 GTAATGAAGGAAAAAAATGTA 0.428 7 1127 --- --- --- --- PAN2 9924 broad.mit.edu 37 12 56717351 56717351 + Frame_Shift_Del DEL T T - rs138946880 TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr12:56717351delT ENST00000425394.2 - 15 2592 c.2216delA c.(2215-2217)gtfs p.D739fs PAN2_ENST00000548043.1_Frame_Shift_Del_p.D739fs|PAN2_ENST00000440411.3_Frame_Shift_Del_p.D735fs|PAN2_ENST00000257931.5_Frame_Shift_Del_p.D738fs NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 739 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GACAAGAATATCTGGCAGATG 0.488 26 49 --- --- --- --- HECTD1 25831 broad.mit.edu 37 14 31597034 31597034 + Frame_Shift_Del DEL G G - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr14:31597034delG ENST00000399332.1 - 26 5426 c.4938delC c.(4936-4938)tcfs p.S1647fs HECTD1_ENST00000553700.1_Frame_Shift_Del_p.S1647fs NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1647 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CACTCTCACTGGAAGTTGATG 0.353 17 80 --- --- --- --- ZNF440 126070 broad.mit.edu 37 19 11943494 11943494 + Frame_Shift_Del DEL T T - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 60db65de-c75e-4f86-a87b-e6ffef420753 g.chr19:11943494delT ENST00000304060.5 + 4 1667 c.1503delT c.(1501-1503)ccfs p.P501fs NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TTCCAGTTCCTTTTGATATCA 0.413 12 52 --- --- --- --- CLSTN2 64084 broad.mit.edu 37 3 140167413 140167413 + Frame_Shift_Del DEL C C - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr3:140167413delC ENST00000458420.3 + 6 1030 c.840delC c.(838-840)ttfs p.F280fs NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 280 Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TGCCCCTGTTCCCCAGCATCC 0.537 HNSCC(16;0.037) 72 112 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97820131 97820132 + Frame_Shift_Del DEL AG AG - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr7:97820131_97820132delAG ENST00000297293.5 + 10 1383_1384 c.1090_1091delAG c.(1090-1092)afs p.R364fs NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 364 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCAAGTCATTAGAGAGAGAGAC 0.495 9 1358 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 2 4 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149488643 149488643 + RNA DEL C C - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr7:149488643delC ENST00000378016.2 + 0 5094 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGGCCTGGGGCCCCTGGAGCC 0.721 2 4 --- --- --- --- PTDSS1 9791 broad.mit.edu 37 8 97318687 97318687 + Frame_Shift_Del DEL A A - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr8:97318687delA ENST00000517309.1 + 8 1236 c.910delA c.(910-912)ccfs p.T304fs PTDSS1_ENST00000455950.2_Frame_Shift_Del_p.T158fs|PTDSS1_ENST00000522072.1_Frame_Shift_Del_p.T101fs NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 304 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TGAGTTGAATACCTTCTTCTT 0.393 67 92 --- --- --- --- EIF4G2 1982 broad.mit.edu 37 11 10821256 10821260 + Frame_Shift_Del DEL CCTTT CCTTT - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr11:10821256_10821260delCCTTT ENST00000526148.1 - 19 2673_2677 c.2163_2167delAAAGG c.(2161-2169)gggafs p.GKG721fs EIF4G2_ENST00000525681.1_Frame_Shift_Del_p.GKG721fs|EIF4G2_ENST00000396525.2_Frame_Shift_Del_p.GKG683fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Frame_Shift_Del_p.GKG721fs NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 721 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AAACTCAGTCCCTTTCCTTCCAAAA 0.385 10 46 --- --- --- --- CTD-2313N18.8 0 broad.mit.edu 37 11 71574635 71574635 + RNA DEL A A - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr11:71574635delA ENST00000528518.1 + 0 168 GTAATGAAGGAAAAAAATGTA 0.428 7 1127 --- --- --- --- PAN2 9924 broad.mit.edu 37 12 56717351 56717351 + Frame_Shift_Del DEL T T - rs138946880 TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr12:56717351delT ENST00000425394.2 - 15 2592 c.2216delA c.(2215-2217)gtfs p.D739fs PAN2_ENST00000548043.1_Frame_Shift_Del_p.D739fs|PAN2_ENST00000257931.5_Frame_Shift_Del_p.D738fs|PAN2_ENST00000440411.3_Frame_Shift_Del_p.D735fs NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 739 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GACAAGAATATCTGGCAGATG 0.488 26 49 --- --- --- --- HECTD1 25831 broad.mit.edu 37 14 31597034 31597034 + Frame_Shift_Del DEL G G - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr14:31597034delG ENST00000399332.1 - 26 5426 c.4938delC c.(4936-4938)tcfs p.S1647fs HECTD1_ENST00000553700.1_Frame_Shift_Del_p.S1647fs NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1647 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CACTCTCACTGGAAGTTGATG 0.353 17 80 --- --- --- --- HERC2P9 440248 broad.mit.edu 37 15 28913367 28913367 + RNA DEL T T - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr15:28913367delT ENST00000528584.1 + 0 1224 NR_036443.1 TGAGTTCTCCTTTTTTTTTTT 0.308 2 4 --- --- --- --- ZNF440 126070 broad.mit.edu 37 19 11943494 11943494 + Frame_Shift_Del DEL T T - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chr19:11943494delT ENST00000304060.5 + 4 1667 c.1503delT c.(1501-1503)ccfs p.P501fs NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TTCCAGTTCCTTTTGATATCA 0.413 12 52 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0ce56d2-8e2b-42b4-ac59-d37ba5a7a2c3 43395582-90ea-4e50-83a5-6395b7aef658 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 5 --- --- --- ---