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 EARS2 124454 broad.mit.edu 37 16 23536527 23536527 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:23536527G>A ENST00000563232.1 - 8 1526 c.1526C>T c.(1525-1527)cCc>cTc p.P509L EARS2_ENST00000563459.1_Intron|EARS2_ENST00000449606.1_Intron|EARS2_ENST00000564987.1_Intron|EARS2_ENST00000564501.1_Intron Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 0 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) atcaatGAGGGGCTCCAGGGA 0.483000 27 67 0 0 0.108266 0 0 FAM47A 158724 broad.mit.edu 37 X 34149589 34149589 + Silent SNP A A C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chrX:34149589A>C ENST00000346193.3 - 1 858 c.807T>G c.(805-807)tcT>tcG p.S269S NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 269 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GCTTCCTCTCAGAATCCAGTT 0.587000 22 26 0 0 0.091800 0 0 TMEM237 65062 broad.mit.edu 37 2 202492078 202492078 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:202492078G>A ENST00000409444.2 - 11 1296 c.979C>T c.(979-981)Ctt>Ttt p.L327F TMEM237_ENST00000409883.2_Missense_Mutation_p.L335F NM_152388.3 NP_689601.2 Q96Q45 TM237_HUMAN transmembrane protein 237 359 integral to membrane protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3) 7 GGTGTGTAAAGGTGGATTCTG 0.333000 3 15 0 0 0.115264 0 0 PKP3 11187 broad.mit.edu 37 11 404005 404005 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:404005C>T ENST00000331563.2 + 11 2216 c.2140C>T c.(2140-2142)Cca>Tca p.P714S NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 714 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAAGTCGCCCCCAGCCGAGGT 0.627000 24 70 0 0 0.076483 0 0 TENM1 10178 broad.mit.edu 37 X 123699280 123699280 + Nonsense_Mutation SNP G G T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chrX:123699280G>T ENST00000422452.2 - 12 2271 c.2208C>A c.(2206-2208)tgC>tgA p.C736* TENM1_ENST00000371130.3_Nonsense_Mutation_p.C736* NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTCCATCTTTGCATTGGCCAT 0.468000 4 56 0.00909568 0.00933132 0.150653 1 0 BEND5 79656 broad.mit.edu 37 1 49202065 49202065 + Silent SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:49202065G>C ENST00000371833.3 - 5 1040 c.954C>G c.(952-954)acC>acG p.T318T AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 318 BEN. large_intestine(5)|lung(2)|skin(1) 8 AATCTCCTTGGGTTACTTGTA 0.468000 6 234 0 0 0.029380 0 0 SEC16A 9919 broad.mit.edu 37 9 139339534 139339534 + Silent SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:139339534T>C ENST00000313050.7 - 28 6970 c.6897A>G c.(6895-6897)ttA>ttG p.L2299L SEC16A_ENST00000313084.5_Silent_p.L327L|SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000371706.3_Intron|SEC16A_ENST00000431893.2_Silent_p.L2096L NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 2121 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CTTCACGTGATAATGAACTCA 0.498000 7 9 0 0 0.038147 0 0 TP53 7157 broad.mit.edu 37 17 7577507 7577507 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:7577507T>A ENST00000420246.2 - 7 906 c.774A>T c.(772-774)gaA>gaT p.E258D TP53_ENST00000445888.2_Missense_Mutation_p.E258D|TP53_ENST00000269305.4_Missense_Mutation_p.E258D|TP53_ENST00000359597.4_Missense_Mutation_p.E258D|TP53_ENST00000413465.2_Missense_Mutation_p.E258D|TP53_ENST00000455263.2_Missense_Mutation_p.E258D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 258 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E258D(9)|p.0?(8)|p.D259fs*5(1)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.D259fs*86(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(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) ACCTGGAGTCTTCCAGTGTGA 0.577000 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) 31 31 0 0 0.144211 0 0 OR13C9 286362 broad.mit.edu 37 9 107380278 107380278 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:107380278C>A ENST00000259362.1 - 1 207 c.208G>T c.(208-210)Gac>Tac p.D70Y NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 TAGCAGATGTCCAAGAAGGAG 0.478000 48 124 4.44712e-29 4.9468e-29 0.139131 1 0 SLC2A7 155184 broad.mit.edu 37 1 9086388 9086388 + Missense_Mutation SNP G G T rs150973958 byFrequency TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:9086388G>T ENST00000400906.1 - 1 16 c.17C>A c.(16-18)gCg>gAg p.A6E NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 (facilitated glucose transporter), member 7 6 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AGGGGTTCCCGCCTCTTTGTT 0.582000 7 24 1.06961e-07 1.13253e-07 0.038147 1 0 CDH1 999 broad.mit.edu 37 16 68853291 68853291 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:68853291C>A ENST00000261769.5 + 11 1865 c.1674C>A c.(1672-1674)aaC>aaA p.N558K CDH1_ENST00000422392.2_Missense_Mutation_p.N497K|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 558 Cadherin 4. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) ACGTGAAGAACAGCACGTACA 0.537000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 4 101 0.00909568 0.00933132 0.150653 1 0 BCL9 607 broad.mit.edu 37 1 147086390 147086390 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:147086390G>A ENST00000234739.3 + 6 1275 c.535G>A c.(535-537)Gtg>Atg p.V179M BCL9_ENST00000473292.1_3'UTR NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 179 Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) AGTGGTGTACGTGTTTTCTAC 0.507000 T """IGH@, IGL@""" B-ALL 13 52 0 0 0.105934 0 0 POU6F2 11281 broad.mit.edu 37 7 39247047 39247047 + Silent SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr7:39247047C>A ENST00000518318.2 + 4 381 c.339C>A c.(337-339)ggC>ggA p.G113G POU6F2_ENST00000403058.1_Silent_p.G113G|POU6F2_ENST00000559001.1_Silent_p.G105G|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 113 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 TGCCGGGAGGCCCCCCAGCCC 0.577000 79 200 1.31969e-37 1.47626e-37 0.139131 1 0 RUNX1T1 862 broad.mit.edu 37 8 92972691 92972691 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr8:92972691C>A ENST00000523629.1 - 12 2048 c.1594G>T c.(1594-1596)Gcc>Tcc p.A532S RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A505S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A495S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A543S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A505S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A495S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A532S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A495S NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 532 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CAGTATCGGGCTGTGTTACAG 0.522000 16 49 0.000422831 0.000440635 0.146539 1 0 CDH19 28513 broad.mit.edu 37 18 64239355 64239355 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr18:64239355C>G ENST00000262150.2 - 2 379 c.87G>C c.(85-87)aaG>aaC p.K29N CDH19_ENST00000540086.1_Missense_Mutation_p.K29N NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 29 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) GCTTGACTTTCTTTGTTTGAG 0.428000 19 39 0 0 0.043863 0 0 MUC5AC 4586 broad.mit.edu 37 11 1155707 1155707 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:1155707C>T ENST00000356191.2 + 5 393 c.393C>T c.(391-393)caC>caT p.H131H mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GCGGCCCCCACGCTGAGCAGG 0.632000 13 28 0 0 0.093190 0 0 MYH14 79784 broad.mit.edu 37 19 50785002 50785002 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:50785002G>A ENST00000440075.2 + 33 4489 c.4442G>A c.(4441-4443)cGc>cAc p.R1481H MYH14_ENST00000262269.8_Missense_Mutation_p.R1481H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1473H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1481H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1448H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1448H|MYH14_ENST00000596571.1_Missense_Mutation_p.R1440H Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1440 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CGGGGCCGCCGCCGGCTGCAG 0.701000 5 15 0 0 0.047766 0 0 PPP1R1C 151242 broad.mit.edu 37 2 182852607 182852607 + Silent SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:182852607C>G ENST00000409137.3 + 2 366 c.123C>G c.(121-123)ctC>ctG p.L41L PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Silent_p.L41L|PPP1R1C_ENST00000409702.1_Silent_p.L41L|PPP1R1C_ENST00000280295.3_Silent_p.L48L NM_001261424.1|NM_001261425.1 NP_001248353.1|NP_001248354.1 Q8WVI7 PPR1C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1C 41 signal transduction cytoplasm protein phosphatase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(2) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0628) TTGTGATTCTCAATGAGCATA 0.408000 86 189 0 0 0.139131 0 0 ZNF266 10781 broad.mit.edu 37 19 9524051 9524051 + Missense_Mutation SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:9524051T>C ENST00000592904.1 - 5 3626 c.1550A>G c.(1549-1551)gAg>gGg p.E517G ZNF266_ENST00000361151.1_Missense_Mutation_p.E517G|ZNF266_ENST00000588933.1_Missense_Mutation_p.E517G|ZNF266_ENST00000592292.1_Missense_Mutation_p.E517G|ZNF266_ENST00000361451.2_Missense_Mutation_p.E517G|ZNF266_ENST00000590306.1_Missense_Mutation_p.E517G|ZNF266_ENST00000588221.1_Missense_Mutation_p.E517G Q14584 ZN266_HUMAN zinc finger protein 266 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1) 28 ATAGGGTTTCTCTCCAGTGTG 0.438000 47 116 0 0 0.124865 0 0 FASTKD3 79072 broad.mit.edu 37 5 7867445 7867445 + Missense_Mutation SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr5:7867445A>T ENST00000264669.5 - 2 888 c.752T>A c.(751-753)tTt>tAt p.F251Y MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 251 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTCCGGGGTAAATGTTTCCAA 0.363000 43 296 0 0 0.098360 0 0 KDM4E 390245 broad.mit.edu 37 11 94759470 94759470 + Missense_Mutation SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:94759470T>C ENST00000450979.2 + 1 1049 c.749T>C c.(748-750)gTt>gCt p.V250A NM_001161630.1 NP_001155102.1 B2RXH2 KD4DL_HUMAN lysine (K)-specific demethylase 4E 250 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(7)|kidney(1)|lung(3) 12 TCGCCTACAGTTCTCAAGGAA 0.567000 16 19 0 0 0.132662 0 0 ACSBG2 81616 broad.mit.edu 37 19 6187796 6187796 + Nonsense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:6187796C>T ENST00000588304.1 + 13 2163 c.1717C>T c.(1717-1719)Cag>Tag p.Q573* ACSBG2_ENST00000252669.5_Nonsense_Mutation_p.Q623*|ACSBG2_ENST00000588485.1_Nonsense_Mutation_p.Q436*|ACSBG2_ENST00000586696.1_Nonsense_Mutation_p.Q623*|ACSBG2_ENST00000591403.1_Nonsense_Mutation_p.Q623*|ACSBG2_ENST00000591741.1_3'UTR Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 623 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GAACAATGCACAGAGGATTGA 0.507000 54 159 0 0 0.139131 0 0 GNPTAB 79158 broad.mit.edu 37 12 102151077 102151077 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:102151077A>G ENST00000299314.7 - 18 3609 c.3347T>C c.(3346-3348)aTg>aCg p.M1116T NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 1116 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 TTCTTCTCCCATGATTTCAAA 0.284000 7 45 0 0 0.038147 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91338426 91338426 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:91338426C>T ENST00000261991.3 - 17 2574 c.2401G>A c.(2401-2403)Gta>Ata p.V801I RPS6KA5_ENST00000536315.2_Missense_Mutation_p.V722I NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 801 VA -> ELRHGRSDQ (in Ref. 3; AAC69577). axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) GCCTAAGCTACTGAGTCCGAG 0.483000 54 128 0 0 0.139131 0 0 NLRP12 91662 broad.mit.edu 37 19 54327177 54327177 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:54327177G>A ENST00000324134.6 - 1 420 c.252C>T c.(250-252)gaC>gaT p.D84D NLRP12_ENST00000535162.1_Silent_p.D84D|NLRP12_ENST00000345770.5_Silent_p.D84D|NLRP12_ENST00000391775.3_Silent_p.D84D|NLRP12_ENST00000354278.3_Silent_p.D84D|NLRP12_ENST00000351894.4_Silent_p.D84D|NLRP12_ENST00000391773.1_Silent_p.D84D|NLRP12_ENST00000391772.1_Silent_p.D84D NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 84 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TCTCCCACAGGTCCTTCCTGT 0.607000 94 216 0 0 0.139131 0 0 NUP88 4927 broad.mit.edu 37 17 5312067 5312067 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:5312067G>A ENST00000573584.1 - 5 1352 c.843C>T c.(841-843)atC>atT p.I281I NM_002532.4 NP_002523.2 Q99567 NUP88_HUMAN nucleoporin 88kDa 281 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity endometrium(4)|kidney(4)|large_intestine(4)|lung(3) 15 GTAACAGACTGATGTATGTCA 0.438000 86 64 0 0 0.139131 0 0 ST6GALNAC6 30815 broad.mit.edu 37 9 130652958 130652958 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:130652958C>T ENST00000373146.1 - 5 841 c.662G>A c.(661-663)cGg>cAg p.R221Q ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R187Q|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R221Q|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R221Q|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R187Q Q969X2 SIA7F_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 221 protein glycosylation integral to Golgi membrane|plasma membrane endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GTCAAATTGCCGCATGCGGCC 0.642000 69 54 0 0 0.139131 0 0 WDR17 116966 broad.mit.edu 37 4 177067239 177067239 + Silent SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr4:177067239T>C ENST00000393643.2 + 12 1875 c.1623T>C c.(1621-1623)caT>caC p.H541H WDR17_ENST00000507824.2_Silent_p.H548H|WDR17_ENST00000280190.4_Silent_p.H565H|WDR17_ENST00000508596.1_Silent_p.H541H NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 565 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTAGTGGGCATACAGCAAAAG 0.388000 40 166 0 0 0.086207 0 0 ZBTB41 360023 broad.mit.edu 37 1 197145781 197145781 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:197145781G>A ENST00000367405.4 - 7 1860 c.1792C>T c.(1792-1794)Cat>Tat p.H598Y ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 598 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 TTATCATCATGATGTACTCGT 0.299000 38 127 0 0 0.074837 0 0 STARD10 10809 broad.mit.edu 37 11 72468875 72468875 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:72468875G>A ENST00000334805.6 - 5 1433 c.514C>T c.(514-516)Ctc>Ttc p.L172F STARD10_ENST00000545082.1_Missense_Mutation_p.L143F|STARD10_ENST00000543304.1_Missense_Mutation_p.L172F|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538437.1_Intron|STARD10_ENST00000538536.1_Missense_Mutation_p.L126F NM_006645.2 NP_006636.2 Q9Y365 PCTL_HUMAN StAR-related lipid transfer (START) domain containing 10 172 START. endometrium(4)|large_intestine(1)|lung(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(5;7.08e-07) CTCTGGATGAGGTAGCCCGTC 0.612000 35 47 0 0 0.183431 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68008608 68008608 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:68008608G>A ENST00000329153.5 + 2 156 c.24G>A c.(22-24)gcG>gcA p.A8A NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 8 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) AGGTGGAGGCGCCGGCCAGCG 0.537000 3 10 0 0 0.115264 0 0 PARP9 83666 broad.mit.edu 37 3 122269638 122269638 + Missense_Mutation SNP A A C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:122269638A>C ENST00000462315.1 - 6 1412 c.1119T>G c.(1117-1119)caT>caG p.H373Q PARP9_ENST00000360356.2_Missense_Mutation_p.H408Q|PARP9_ENST00000471785.1_Missense_Mutation_p.H373Q|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Missense_Mutation_p.H373Q NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 408 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) CCTTCATTGCATGTTTTAATA 0.378000 23 64 0 0 0.076483 0 0 COL6A6 131873 broad.mit.edu 37 3 130289727 130289727 + Missense_Mutation SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:130289727G>C ENST00000358511.6 + 6 2498 c.2467G>C c.(2467-2469)Gat>Cat p.D823H COL6A6_ENST00000453409.2_Missense_Mutation_p.D823H NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 823 Nonhelical region.|VWFA 5. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TATTGACTATGATGAGTATAA 0.398000 30 84 0 0 0.125774 0 0 TIAL1 7073 broad.mit.edu 37 10 121336662 121336662 + Missense_Mutation SNP G G A rs148932828 byFrequency TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr10:121336662G>A ENST00000369092.4 - 11 1730 c.422C>T c.(421-423)aCg>aTg p.T141M TIAL1_ENST00000369093.2_Missense_Mutation_p.T281M|TIAL1_ENST00000436547.2_Missense_Mutation_p.T264M|TIAL1_ENST00000463089.2_5'UTR Q01085 TIAR_HUMAN TIA1 cytotoxic granule-associated RNA binding protein-like 1 264 RRM 2. apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter lysosome|nucleus|stress granule nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 13 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932) TCCTTCAATCGTAGTACCGTT 0.348000 36 34 0 0 0.086207 0 0 GPR137C 283554 broad.mit.edu 37 14 53098999 53098999 + Missense_Mutation SNP A A C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:53098999A>C ENST00000321662.6 + 4 839 c.839A>C c.(838-840)aAt>aCt p.N280T NM_001099652.1 NP_001093122.1 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 280 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 Breast(41;0.0716) AGTCCATTTAATTATGGCTGG 0.388000 30 69 0 0 0.086207 0 0 PNMA1 9240 broad.mit.edu 37 14 74179621 74179621 + Missense_Mutation SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:74179621T>C ENST00000316836.3 - 1 1507 c.722A>G c.(721-723)gAg>gGg p.E241G NM_006029.4 NP_006020.4 Q8ND90 PNMA1_HUMAN paraneoplastic Ma antigen 1 241 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2) 13 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) cctagagctctcaacgctccc 0.517000 41 115 0 0 0.098360 0 0 PAX6 5080 broad.mit.edu 37 11 31816281 31816281 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:31816281G>A ENST00000419022.1 - 9 1089 c.621C>T c.(619-621)aaC>aaT p.N207N PAX6_ENST00000379123.5_Silent_p.N193N|PAX6_ENST00000379115.4_Silent_p.N207N|PAX6_ENST00000241001.8_Silent_p.N193N|PAX6_ENST00000379107.2_Silent_p.N207N|PAX6_ENST00000379132.3_Silent_p.N193N|PAX6_ENST00000379111.2_Silent_p.N193N|PAX6_ENST00000379129.2_Silent_p.N207N NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 193 Gln/Gly-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) AATCTTCTCCGTTGGAACTGA 0.453000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 34 101 0 0 0.173368 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 4 68 0 0 0.150653 0 0 PRPF40B 25766 broad.mit.edu 37 12 50037938 50037938 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:50037938G>A ENST00000261897.1 + 25 3091 c.2540G>A c.(2539-2541)cGg>cAg p.R847Q PRPF40B_ENST00000380281.1_Missense_Mutation_p.R860Q|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R881Q Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 860 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 GAGAGGCGGCGGCGGACACTC 0.607000 OREG0021798 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 62 0 0 0.043863 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815800 179815800 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:179815800C>T ENST00000367612.3 - 6 1206 c.819G>A c.(817-819)ctG>ctA p.L273L NM_001199260.1|NM_145034.4 NP_001186189.1|NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 273 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 CTCTCTGCCACAGGAAGGAAC 0.522000 28 139 0 0 0.116897 0 0 METRNL 284207 broad.mit.edu 37 17 81043036 81043036 + Silent SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:81043036A>G ENST00000571814.1 + 1 1088 c.147A>G c.(145-147)gtA>gtG p.V49V METRNL_ENST00000320095.7_Silent_p.V131V|METRNL_ENST00000570778.1_Silent_p.V49V Q641Q3 METRL_HUMAN meteorin, glial cell differentiation regulator-like 131 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GACTGCTGGTACCAGACGGGG 0.632000 72 42 0 0 0.139131 0 0 LRRC27 80313 broad.mit.edu 37 10 134188714 134188714 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr10:134188714G>A ENST00000368610.3 + 10 1375 c.1375G>A c.(1375-1377)Gga>Aga p.G459R LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.G521R|LRRC27_ENST00000368614.3_Missense_Mutation_p.G521R|LRRC27_ENST00000368612.1_Missense_Mutation_p.G459R Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 521 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) CACAAAATATGGAGAATCAGG 0.522000 20 25 0 0 0.062417 0 0 TRPC7 57113 broad.mit.edu 37 5 135587503 135587503 + Nonsense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr5:135587503C>T ENST00000513104.1 - 6 1695 c.1413G>A c.(1411-1413)tgG>tgA p.W471* TRPC7_ENST00000355180.3_Nonsense_Mutation_p.W410*|TRPC7_ENST00000426057.2_Nonsense_Mutation_p.W355* NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 471 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTAGCAGGTTCCACAAGTGCA 0.567000 32 47 0 0 0.064281 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43980883 43980883 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:43980883C>T ENST00000282406.4 + 25 3889 c.3779C>T c.(3778-3780)gCa>gTa p.A1260V NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1260 FERM. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTAGAAATGGCAGCTCTTTTA 0.299000 58 86 0 0 0.139131 0 0 DCST2 127579 broad.mit.edu 37 1 155004226 155004226 + Nonsense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:155004226C>T ENST00000368424.3 - 4 621 c.563G>A c.(562-564)tGg>tAg p.W188* DCST2_ENST00000295536.5_Nonsense_Mutation_p.W188* NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 188 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GAGCCACTGCCACACATTCCG 0.582000 6 19 0 0 0.105934 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1812698 1812698 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:1812698G>A ENST00000250894.4 + 15 1847 c.1690G>A c.(1690-1692)Gtc>Atc p.V564I MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.V558I NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 564 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 GCACCCATCCGTCCAGGAGAA 0.662000 81 165 0 0 0.139131 0 0 SFSWAP 6433 broad.mit.edu 37 12 132237706 132237706 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:132237706C>T ENST00000261674.4 + 8 1261 c.1120C>T c.(1120-1122)Ccg>Tcg p.P374S SFSWAP_ENST00000541286.1_Missense_Mutation_p.P374S NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 374 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 CTACATGCTACCGGACGGCAC 0.612000 56 119 0 0 0.139131 0 0 LRP1B 53353 broad.mit.edu 37 2 141777529 141777529 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:141777529C>A ENST00000389484.3 - 12 2903 c.1932G>T c.(1930-1932)atG>atT p.M644I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 644 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGGATGAGACATTTCACCCT 0.368000 TSP Lung(27;0.18) 35 113 9.8876e-21 1.08764e-20 0.074837 1 0 CCDC9 26093 broad.mit.edu 37 19 47763905 47763905 + Nonsense_Mutation SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:47763905A>T ENST00000221922.6 + 5 493 c.271A>T c.(271-273)Aag>Tag p.K91* NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 91 Gly-rich. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) AGGGGCCAGCAAGGGGGGCCG 0.706000 28 96 0 0 0.116897 0 0 NPFFR2 10886 broad.mit.edu 37 4 73012714 73012714 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr4:73012714C>A ENST00000308744.6 + 4 852 c.754C>A c.(754-756)Cct>Act p.P252T NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.P153T|NPFFR2_ENST00000358749.3_Missense_Mutation_p.P150T|NPFFR2_ENST00000506359.1_3'UTR NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 252 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TGTGGTCTACCCTTTTAAACC 0.378000 98 280 3.77759e-48 4.27407e-48 0.139131 1 0 STX8 9482 broad.mit.edu 37 17 9395196 9395196 + Missense_Mutation SNP C C T rs143935601 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:9395196C>T ENST00000306357.3 - 6 918 c.491G>A c.(490-492)cGc>cAc p.R164H STX8_ENST00000574431.1_Missense_Mutation_p.R53H NM_004853.2 NP_004844.1 Q9UNK0 STX8_HUMAN syntaxin 8 164 t-SNARE coiled-coil homology. transport endoplasmic reticulum|integral to plasma membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1) 12 TTGTTTTTGGCGACTTATGAT 0.363000 109 117 0 0 0.139131 0 0 SEPT12 124404 broad.mit.edu 37 16 4833975 4833975 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:4833975G>A ENST00000268231.8 - 5 732 c.469C>T c.(469-471)Cgg>Tgg p.R157W SEPT12_ENST00000396693.5_Intron NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 157 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 CAGTGCACCCGGGTGTCTGGG 0.637000 49 133 0 0 0.139131 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 171356 171356 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr5:171356A>G ENST00000283426.6 + 14 2829 c.2779A>G c.(2779-2781)Atg>Gtg p.M927V NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 927 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGGTGACAAAATGGACCTGGC 0.697000 46 19 0 0 0.139131 0 0 PHF23 79142 broad.mit.edu 37 17 7139299 7139299 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:7139299G>A ENST00000320316.3 - 4 1173 c.947C>T c.(946-948)tCc>tTc p.S316F PHF23_ENST00000571362.1_Missense_Mutation_p.S249F|PHF23_ENST00000576955.1_Missense_Mutation_p.S186F|PHF23_ENST00000454255.2_Missense_Mutation_p.S312F NM_024297.2 NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 316 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 GCCTTCACTGGAGCTGGCATC 0.587000 416 274 0 0 0.139131 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145290477 145290477 + Nonsense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:145290477C>G ENST00000344859.3 + 5 1045 c.683C>G c.(682-684)tCa>tGa p.S228* RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369339.2_5'UTR|NOTCH2NL_ENST00000479995.2_3'UTR Q7Z3S9 NT2NL_HUMAN notch 2 N-terminal like 0 cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 GAAAAGGAATCATACTGCTAA 0.368000 13 447 0 0 0.132662 0 0 SLC6A12 6539 broad.mit.edu 37 12 301770 301770 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:301770G>A ENST00000428720.1 - 15 2318 c.1575C>T c.(1573-1575)taC>taT p.Y525Y SLC6A12_ENST00000536824.1_Silent_p.Y525Y|SLC6A12_ENST00000359674.4_Silent_p.Y525Y|SLC6A12_ENST00000397296.2_Silent_p.Y525Y|SLC6A12_ENST00000424061.2_Silent_p.Y525Y NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 525 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) AGACGTTGTTGTACTTGAGGG 0.572000 41 110 0 0 0.104719 0 0 REL 5966 broad.mit.edu 37 2 61118932 61118932 + Missense_Mutation SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:61118932A>T ENST00000295025.7 + 2 445 c.125A>T c.(124-126)gAc>gTc p.D42V REL_ENST00000394479.3_Missense_Mutation_p.D42V NM_002908.2 NP_002899.1 Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog 42 RHD. positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) CACAGCACAGACAACAACCGA 0.413000 A Hodgkin Lymphoma 50 139 0 0 0.139131 0 0 BMP1 649 broad.mit.edu 37 8 22053789 22053789 + Nonsense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr8:22053789C>T ENST00000397814.3 + 14 1980 c.1861C>T c.(1861-1863)Cga>Tga p.R621* BMP1_ENST00000397816.3_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306349.8_Intron P13497 BMP1_HUMAN bone morphogenetic protein 1 0 CUB 3. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GACAGCACTCCGAGGCTAATG 0.612000 31 29 0 0 0.144211 0 0 ZNF676 163223 broad.mit.edu 37 19 22363783 22363783 + Missense_Mutation SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:22363783T>C ENST00000397121.2 - 3 1053 c.736A>G c.(736-738)Att>Gtt p.I246V NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CCAGTATGAATTATCTTATGT 0.358000 17 194 0 0 0.043863 0 0 LOC101929735 101929735 broad.mit.edu 37 14 22935100 22935100 + RNA SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:22935100G>A ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA CGTGGAGGAGGACAAAGTTTC 0.438000 5 20 0 0 0.014758 0 0 PODNL1 79883 broad.mit.edu 37 19 14044707 14044707 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:14044707C>G ENST00000538517.2 - 5 743 c.499G>C c.(499-501)Gat>Cat p.D167H PODNL1_ENST00000538371.2_Missense_Mutation_p.D256H|PODNL1_ENST00000254320.3_Missense_Mutation_p.D176H|PODNL1_ENST00000339560.5_Missense_Mutation_p.D258H NM_001146255.1 NP_001139727.1 Q6PEZ8 PONL1_HUMAN podocan-like 1 258 Leu-rich. proteinaceous extracellular matrix central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(19;5.26e-23) GTGGTGGCATCCAGGCCACTG 0.612000 3 17 0 0 0.115264 0 0 MDN1 23195 broad.mit.edu 37 6 90385185 90385185 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:90385185G>A ENST00000369393.3 - 78 12874 c.12759C>T c.(12757-12759)ctC>ctT p.L4253L RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Silent_p.L4253L Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4253 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCTGATACCTGAGGATGATCC 0.527000 29 69 0 0 0.108266 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94697030 94697030 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:94697030C>T ENST00000260526.6 - 2 320 c.138G>A c.(136-138)aaG>aaA p.K46K ARHGAP29_ENST00000370217.3_Silent_p.K46K NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 46 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TCACCAACTCCTTGATGTAAT 0.388000 58 107 0 0 0.139131 0 0 RTN4RL2 349667 broad.mit.edu 37 11 57243919 57243919 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:57243919C>G ENST00000335099.3 + 3 1115 c.798C>G c.(796-798)gaC>gaG p.D266E NM_178570.1 NP_848665.1 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 266 LRRCT. axon regeneration anchored to plasma membrane receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GGGCGTGCGACTGCCGCGCGC 0.741000 4 17 0 0 0.038147 0 0 SYBU 55638 broad.mit.edu 37 8 110631186 110631186 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr8:110631186G>A ENST00000399066.3 - 2 1030 c.303C>T c.(301-303)tgC>tgT p.C101C SYBU_ENST00000532779.1_Silent_p.C36C|SYBU_ENST00000533895.1_Silent_p.C103C|SYBU_ENST00000446070.2_Silent_p.C103C|SYBU_ENST00000528647.1_Silent_p.C103C|SYBU_ENST00000424158.2_Silent_p.C109C|SYBU_ENST00000440310.1_Silent_p.C104C|SYBU_ENST00000422135.1_Silent_p.C104C|SYBU_ENST00000528331.1_5'UTR|SYBU_ENST00000433638.1_Silent_p.C104C|SYBU_ENST00000408889.3_5'UTR|SYBU_ENST00000408908.2_Silent_p.C104C|SYBU_ENST00000533171.1_Silent_p.C104C|SYBU_ENST00000419099.1_Silent_p.C103C|SYBU_ENST00000276646.9_Silent_p.C104C|SYBU_ENST00000533065.1_5'UTR NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 104 Ser-rich.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 CACTTCCAGGGCAAAAGCCAA 0.478000 5 202 0 0 0.021553 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152235971 152235971 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:152235971C>T ENST00000243347.3 + 6 833 c.758C>T c.(757-759)tCc>tTc p.S253F NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 253 cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) GTATCCAAATCCAGTCAAGGA 0.338000 62 165 0 0 0.139131 0 0 OR10X1 128367 broad.mit.edu 37 1 158549182 158549182 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:158549182A>G ENST00000368150.1 - 1 507 c.508T>C c.(508-510)Ttt>Ctt p.F170L NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AGAGAGATAAAGAAGCCTGCA 0.468000 26 64 0 0 0.099896 0 0 ZNF236 7776 broad.mit.edu 37 18 74631933 74631933 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr18:74631933C>T ENST00000253159.8 + 20 3668 c.3470C>T c.(3469-3471)gCg>gTg p.A1157V ZNF236_ENST00000320610.9_Missense_Mutation_p.A1159V NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1157 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GACAAGCAGGCGGAGCTGCAG 0.627000 13 24 0 0 0.093190 0 0 ANO1 55107 broad.mit.edu 37 11 70028647 70028647 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:70028647C>T ENST00000355303.5 + 24 2748 c.2443C>T c.(2443-2445)Ctg>Ttg p.L815L ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000531349.1_Silent_p.L524L|ANO1_ENST00000530676.1_Silent_p.L669L|ANO1_ENST00000398543.2_Silent_p.L669L|ANO1_ENST00000538023.1_Silent_p.L815L NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 815 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 CATCCCGCGCCTGGTGTACCT 0.617000 23 322 0 0 0.069288 0 0 ZNF292 23036 broad.mit.edu 37 6 87969654 87969654 + Missense_Mutation SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:87969654G>C ENST00000369577.3 + 8 6350 c.6307G>C c.(6307-6309)Gag>Cag p.E2103Q ZNF292_ENST00000339907.4_Missense_Mutation_p.E2098Q NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CCAATCCCTTGAGTTTCCAAC 0.413000 29 89 0 0 0.134883 0 0 GAPVD1 26130 broad.mit.edu 37 9 128112629 128112629 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:128112629C>T ENST00000470056.1 + 19 3434 c.3274C>T c.(3274-3276)Cca>Tca p.P1092S GAPVD1_ENST00000394104.2_Missense_Mutation_p.P1137S|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P1098S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P1071S|GAPVD1_ENST00000297933.6_Missense_Mutation_p.P1119S|GAPVD1_ENST00000265956.4_Missense_Mutation_p.P1111S|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P1146S|GAPVD1_ENST00000495955.1_Missense_Mutation_p.P1137S Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1137 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TGTTGCCTTCCCAGTGCTGAC 0.403000 99 87 0 0 0.139131 0 0 TRPM2 7226 broad.mit.edu 37 21 45837865 45837865 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr21:45837865C>T ENST00000397928.1 + 21 3647 c.3202C>T c.(3202-3204)Cat>Tat p.H1068Y TRPM2_ENST00000300482.5_Missense_Mutation_p.H1068Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1068Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1048Y NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1068 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GTTCCAGCGCCATGACCTGAT 0.612000 34 77 0 0 0.173368 0 0 E2F4 1874 broad.mit.edu 37 16 67228755 67228755 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:67228755C>T ENST00000379378.3 + 6 739 c.680C>T c.(679-681)cCt>cTt p.P227L NM_001950.3 NP_001941.2 Q16254 E2F4_HUMAN E2F transcription factor 4, p107/p130-binding 227 G1 phase of mitotic cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2) 11 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325) ACACCTCCACCTCTGCCCAAG 0.597000 48 95 0 0 0.139131 0 0 ANKS3 124401 broad.mit.edu 37 16 4747373 4747373 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:4747373C>T ENST00000304283.4 - 16 2149 c.1855G>A c.(1855-1857)Gag>Aag p.E619K ANKS3_ENST00000585773.1_Missense_Mutation_p.E546K|ANKS3_ENST00000446014.2_Missense_Mutation_p.E490K NM_133450.3 NP_597707.1 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 619 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 CCCGAGAGCTCGGGGAGGCTC 0.657000 48 119 0 0 0.139131 0 0 CSPP1 79848 broad.mit.edu 37 8 68102908 68102908 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr8:68102908G>A ENST00000262210.5 + 27 3260 c.3229G>A c.(3229-3231)Gcc>Acc p.A1077T CSPP1_ENST00000412460.1_Missense_Mutation_p.A732T|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_3'UTR NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 1112 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) GACATATCCTGCCATTGAAGA 0.483000 38 81 0 0 0.098360 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111913273 111913273 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:111913273G>A ENST00000368761.5 - 2 495 c.17C>T c.(16-18)cCt>cTt p.P6L TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P6L|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P15L|TRAF3IP2_ENST00000392556.4_5'UTR NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 15 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) AACCTCCACAGGAATGCTTCG 0.423000 48 125 0 0 0.139131 0 0 LOC645166 645166 broad.mit.edu 37 1 148933289 148933289 + RNA SNP A A G rs9729175 by1000genomes TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:148933289A>G ENST00000539543.1 + 0 176 NR_027355.1 TGCTGCCCGCAGGATATTGTG 0.562000 3 21 0 0 0.038147 0 0 DPH7 92715 broad.mit.edu 37 9 140473185 140473185 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:140473185G>A ENST00000277540.2 - 1 202 c.45C>T c.(43-45)acC>acT p.T15T DPH7_ENST00000479650.1_5'UTR NM_138778.2 NP_620133.1 diphthamide biosynthesis 7 CCGAGTCCGCGGTCAGCTCGG 0.746000 7 2 0 0 0.029380 0 0 TNC 3371 broad.mit.edu 37 9 117848842 117848842 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:117848842C>T ENST00000350763.4 - 3 1579 c.1168G>A c.(1168-1170)Ggg>Agg p.G390R TNC_ENST00000341037.4_Missense_Mutation_p.G390R|TNC_ENST00000423613.2_Missense_Mutation_p.G390R|TNC_ENST00000340094.3_Missense_Mutation_p.G390R|TNC_ENST00000345230.3_Missense_Mutation_p.G390R|TNC_ENST00000535648.1_Missense_Mutation_p.G390R|TNC_ENST00000346706.3_Missense_Mutation_p.G390R|TNC_ENST00000537320.1_Missense_Mutation_p.G390R|TNC_ENST00000542877.1_Missense_Mutation_p.G390R NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 390 EGF-like 8. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TCACACCGCCCGTCTACACAG 0.587000 33 104 0 0 0.183431 0 0 CDH10 1008 broad.mit.edu 37 5 24498580 24498580 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr5:24498580T>A ENST00000264463.4 - 9 1949 c.1442A>T c.(1441-1443)gAt>gTt p.D481V CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 481 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GTCATTAACATCCAAAATTCT 0.408000 HNSCC(23;0.051) 33 238 0 0 0.183431 0 0 IFT172 26160 broad.mit.edu 37 2 27668659 27668659 + Missense_Mutation SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:27668659T>C ENST00000260570.3 - 45 4970 c.4867A>G c.(4867-4869)Aca>Gca p.T1623A KRTCAP3_ENST00000543753.1_Intron NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1623 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) GGAATGTCTGTATCCTGAAAA 0.542000 48 118 0 0 0.139131 0 0 MNS1 55329 broad.mit.edu 37 15 56748614 56748614 + Missense_Mutation SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr15:56748614T>C ENST00000260453.3 - 3 495 c.331A>G c.(331-333)Agg>Ggg p.R111G NM_018365.2 NP_060835.1 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 111 Glu-rich. meiosis breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 20 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) ACTTGTTGCCTCATCTTTTCG 0.333000 3 95 0 0 0.115264 0 0 OR4C46 119749 broad.mit.edu 37 11 51515476 51515476 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:51515476C>T ENST00000328188.1 + 1 195 c.195C>T c.(193-195)tcC>tcT p.S65S NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 CCTATCTCTCCTTTATTGATG 0.478000 87 287 0 0 0.139131 0 0 FIZ1 84922 broad.mit.edu 37 19 56104586 56104586 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:56104586C>A ENST00000221665.3 - 3 810 c.721G>T c.(721-723)Gcg>Tcg p.A241S NM_032836.2 NP_116225.2 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 241 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding p.A241S(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TCCAGCAGCGCGGGCGCGTTG 0.776000 8 10 1.12685e-05 1.18679e-05 0.047766 1 0 KIF5B 3799 broad.mit.edu 37 10 32326241 32326241 + Missense_Mutation SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr10:32326241G>C ENST00000302418.4 - 8 1109 c.652C>G c.(652-654)Caa>Gaa p.Q218E NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 218 Kinesin-motor. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) TGTTCCGTTTGTGTGTTCTCT 0.313000 T """RET, ALK""" NSCLC 10 120 0 0 0.058154 0 0 ACTL6A 86 broad.mit.edu 37 3 179291189 179291189 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:179291189G>A ENST00000429709.2 + 4 523 c.310G>A c.(310-312)Gat>Aat p.D104N ACTL6A_ENST00000450518.2_Missense_Mutation_p.D62N|ACTL6A_ENST00000392662.1_Missense_Mutation_p.D62N NM_004301.3 NP_004292.1 O96019 ACL6A_HUMAN actin-like 6A 104 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 21 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) AGCTATTTTGGATCATACCTA 0.358000 40 98 0 0 0.117977 0 0 OR51B2 79345 broad.mit.edu 37 11 5344959 5344959 + Missense_Mutation SNP A A C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:5344959A>C ENST00000328813.2 - 1 623 c.569T>G c.(568-570)aTa>aGa p.I190R HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTGAAAGTTATGTCAGCACA 0.353000 25 48 0 0 0.083992 0 0 AKT3 10000 broad.mit.edu 37 1 243716166 243716166 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:243716166C>A ENST00000366539.1 - 11 1228 c.1028G>T c.(1027-1029)aGg>aTg p.R343M AKT3_ENST00000336199.5_Missense_Mutation_p.R343M|AKT3_ENST00000366540.1_Missense_Mutation_p.R343M|AKT3_ENST00000263826.5_Missense_Mutation_p.R343M Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 343 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) GAAAGGTAACCTCCCACACAT 0.383000 49 275 1.11015e-26 1.22799e-26 0.139131 1 0 STX1A 6804 broad.mit.edu 37 7 73115164 73115164 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr7:73115164T>A ENST00000222812.3 - 9 711 c.685A>T c.(685-687)Atg>Ttg p.M229L STX1A_ENST00000395155.3_Missense_Mutation_p.D259V|STX1A_ENST00000484736.1_5'UTR|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000395154.3_3'UTR|STX1A_ENST00000395156.3_Intron NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 229 t-SNARE coiled-coil homology. energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) CTGTCAATCATCTCTCCCTGC 0.627000 13 23 0 0 0.119110 0 0 NETO1 81832 broad.mit.edu 37 18 70423379 70423379 + Missense_Mutation SNP G G T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr18:70423379G>T ENST00000327305.6 - 8 1529 c.872C>A c.(871-873)cCt>cAt p.P291H NETO1_ENST00000299430.2_Missense_Mutation_p.P290H|NETO1_ENST00000583169.1_Missense_Mutation_p.P291H NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 291 LDL-receptor class A. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GCCTTCACAAGGAGCTAAAAA 0.333000 29 50 4.87955e-14 5.27952e-14 0.108266 1 0 CNTROB 116840 broad.mit.edu 37 17 7836476 7836476 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:7836476C>T ENST00000380262.3 + 1 1004 c.79C>T c.(79-81)Ctc>Ttc p.L27F CNTROB_ENST00000563694.1_Missense_Mutation_p.L27F|CNTROB_ENST00000565740.1_Missense_Mutation_p.L27F|CNTROB_ENST00000380255.3_Missense_Mutation_p.L27F NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 27 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) ACCCCCTGGGCTCAACCAAGT 0.597000 163 127 0 0 0.139131 0 0 TBXA2R 6915 broad.mit.edu 37 19 3600302 3600302 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:3600302C>T ENST00000375190.4 - 2 724 c.331G>A c.(331-333)Gtc>Atc p.V111I TBXA2R_ENST00000411851.3_Missense_Mutation_p.V111I|TBXA2R_ENST00000589966.1_Missense_Mutation_p.V111I NM_001060.5|NM_201636.2 NP_001051.1|NP_963998.2 P21731 TA2R_HUMAN thromboxane A2 receptor 111 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) AAGATCATGACGACGCCCATG 0.692000 13 23 0 0 0.093190 0 0 KMT2D 8085 broad.mit.edu 37 12 49420409 49420409 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:49420409G>A ENST00000301067.7 - 48 15339 c.15340C>T c.(15340-15342)Cat>Tat p.H5114Y NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CAAGCAAAATGGTAGACATTG 0.557000 35 90 0 0 0.183431 0 0 TRPM6 140803 broad.mit.edu 37 9 77397710 77397710 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:77397710C>T ENST00000451710.3 - 22 3216 c.2979G>A c.(2977-2979)gtG>gtA p.V993V TRPM6_ENST00000449912.2_Silent_p.V988V|TRPM6_ENST00000376864.4_Silent_p.V993V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.V988V|TRPM6_ENST00000360774.1_Silent_p.V993V Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 993 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CCTTGCGTGCCACTCCAAAGC 0.438000 33 33 0 0 0.153744 0 0 ANKRD36 375248 broad.mit.edu 37 2 97779626 97779626 + Nonsense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:97779626C>G ENST00000420699.2 + 1 394 c.150C>G c.(148-150)taC>taG p.Y50* ANKRD36_ENST00000461153.2_Nonsense_Mutation_p.Y50* NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 50 p.Y50*(2) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 AACTGAAGTACCTTCTGCTCA 0.517000 29 56 0 0 0.116897 0 0 FAM26E 254228 broad.mit.edu 37 6 116833202 116833202 + Missense_Mutation SNP C C A rs11539385 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:116833202C>A ENST00000368599.3 + 1 394 c.343C>A c.(343-345)Ctt>Att p.L115I TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron NM_153711.2 NP_714922.1 Q8N5C1 FA26E_HUMAN family with sequence similarity 26, member E 115 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) AGTGATGTGGCTTTCTGTGGC 0.512000 4 92 0.150653 0.152971 0.150653 1 0 ZFHX4 79776 broad.mit.edu 37 8 77617964 77617964 + Silent SNP T T C rs74886598 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr8:77617964T>C ENST00000521891.2 + 2 2089 c.1641T>C c.(1639-1641)agT>agC p.S547S ZFHX4_ENST00000518282.1_Silent_p.S547S|ZFHX4_ENST00000050961.6_Silent_p.S547S|ZFHX4_ENST00000455469.2_Silent_p.S547S|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 547 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCAGTGGCAGTGTTGCTAGTA 0.488000 HNSCC(33;0.089) 6 31 0 0 0.069234 0 0 LRP1B 53353 broad.mit.edu 37 2 141083449 141083449 + Splice_Site SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:141083449T>A ENST00000389484.3 - 80 13195 c.e80-2 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGCCAAACCTGCAAAATCAA 0.348000 TSP Lung(27;0.18) 19 35 0 0 0.175082 0 0 FBXO8 26269 broad.mit.edu 37 4 175160279 175160279 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr4:175160279G>A ENST00000393674.2 - 5 1500 c.638C>T c.(637-639)gCa>gTa p.A213V FBXO8_ENST00000503293.1_Missense_Mutation_p.A172V NM_012180.2 NP_036312.2 Q9NRD0 FBX8_HUMAN F-box protein 8 213 SEC7. regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1) 14 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) TTCTCTCAGTGCATTTGGCAA 0.378000 17 80 0 0 0.175082 0 0 MPP2 4355 broad.mit.edu 37 17 41958711 41958711 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:41958711G>A ENST00000269095.4 - 8 1124 c.820C>T c.(820-822)Cat>Tat p.H274Y MPP2_ENST00000523501.1_Missense_Mutation_p.H263Y|MPP2_ENST00000377184.3_Missense_Mutation_p.H291Y|MPP2_ENST00000520305.1_Missense_Mutation_p.H135Y|MPP2_ENST00000461854.1_Missense_Mutation_p.H298Y|MPP2_ENST00000518766.1_Missense_Mutation_p.H319Y|MPP2_ENST00000536246.1_Missense_Mutation_p.H263Y NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 298 SH3. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CCTTCGACATGGCATGCCTAA 0.597000 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 111 59 0 0 0.139131 0 0 RAD9B 144715 broad.mit.edu 37 12 110968353 110968353 + Silent SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:110968353A>G ENST00000409246.1 + 11 1258 c.933A>G c.(931-933)gcA>gcG p.A311A RAD9B_ENST00000392672.4_Silent_p.A383A|RAD9B_ENST00000409778.3_Intron|RAD9B_ENST00000409425.1_Silent_p.A311A|RAD9B_ENST00000409300.1_Silent_p.A383A Q6WBX8 RAD9B_HUMAN RAD9 homolog B (S. pombe) 380 cell cycle checkpoint|DNA repair|DNA replication nucleoplasm protein binding endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 7 TCTTTGGAGCAGTTTCTTCTG 0.433000 36 127 0 0 0.086207 0 0 CDH2 1000 broad.mit.edu 37 18 25585828 25585828 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr18:25585828C>G ENST00000269141.3 - 6 1255 c.832G>C c.(832-834)Gag>Cag p.E278Q CDH2_ENST00000399380.3_Missense_Mutation_p.E247Q NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 278 Cadherin 2. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTTGATCCCTCAGGAACTGTC 0.388000 48 116 0 0 0.139131 0 0 BAI3 577 broad.mit.edu 37 6 69703805 69703805 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:69703805C>A ENST00000370598.1 + 11 2701 c.1880C>A c.(1879-1881)aCa>aAa p.T627K NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 627 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AGAAATGTGACAGACACATTT 0.443000 46 122 1.17475e-09 1.25054e-09 0.139131 1 0 FTSJ3 117246 broad.mit.edu 37 17 61903471 61903471 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:61903471G>A ENST00000427159.2 - 5 890 c.245C>T c.(244-246)cCt>cTt p.P82L NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 82 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 ATTGGGGAGAGGCTTGATTGG 0.468000 130 98 0 0 0.139131 0 0 SZT2 23334 broad.mit.edu 37 1 43908207 43908207 + Missense_Mutation SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:43908207A>T ENST00000562955.1 + 57 7898 c.7898A>T c.(7897-7899)cAt>cTt p.H2633L SZT2_ENST00000372442.1_Missense_Mutation_p.H1791L NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2690 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GCACGAGCCCATCTCATCTTC 0.587000 53 114 0 0 0.139131 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 3 79 0 0 0.115264 0 0 VPS13D 55187 broad.mit.edu 37 1 12423152 12423152 + Missense_Mutation SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:12423152A>T ENST00000358136.3 + 52 10427 c.10297A>T c.(10297-10299)Att>Ttt p.I3433F VPS13D_ENST00000356315.4_Missense_Mutation_p.I3408F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3432 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CGAAGGTTACATTTCCACCCT 0.448000 82 204 0 0 0.139131 0 0 ABCA12 26154 broad.mit.edu 37 2 215976352 215976352 + Missense_Mutation SNP C C T rs113648834 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:215976352C>T ENST00000272895.7 - 2 350 c.131G>A c.(130-132)cGg>cAg p.R44Q ABCA12_ENST00000412081.1_Missense_Mutation_p.R44Q NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 44 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AAATTTGGTCCGAGTAATAGC 0.299000 29 89 0 0 0.163468 0 0 ROPN1 54763 broad.mit.edu 37 3 123695771 123695771 + Silent SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:123695771T>C ENST00000184183.4 - 4 514 c.174A>G c.(172-174)cgA>cgG p.R58R ROPN1_ENST00000405845.3_Silent_p.R58R NM_017578.2 NP_060048.2 Q9HAT0 ROP1A_HUMAN rhophilin associated tail protein 1 58 signal transduction cAMP-dependent protein kinase regulator activity lung(2)|ovary(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.148) ACAAAGCGACTCGCTCAGACC 0.517000 44 106 0 0 0.139131 0 0 NCOA1 8648 broad.mit.edu 37 2 24905933 24905933 + Silent SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:24905933C>G ENST00000405141.1 + 9 1179 c.468C>G c.(466-468)gtC>gtG p.V156V NCOA1_ENST00000538539.1_Silent_p.V156V|NCOA1_ENST00000407230.1_Silent_p.V5V|NCOA1_ENST00000406961.1_Silent_p.V156V|NCOA1_ENST00000395856.3_Silent_p.V156V|NCOA1_ENST00000348332.3_Silent_p.V156V|NCOA1_ENST00000288599.5_Silent_p.V156V Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 156 PAS. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATACGAGCGTCTACAGCATAC 0.373000 T PAX3 alveolar rhadomyosarcoma 27 84 0 0 0.099896 0 0 SUPT16H 11198 broad.mit.edu 37 14 21831284 21831284 + Nonsense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:21831284G>A ENST00000216297.2 - 13 1758 c.1420C>T c.(1420-1422)Cga>Tga p.R474* NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 474 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TGTGCTCTTCGCTTCTCTTCT 0.398000 58 171 0 0 0.139131 0 0 LPHN2 23266 broad.mit.edu 37 1 82436053 82436053 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:82436053C>A ENST00000370728.1 + 18 3422 c.2777C>A c.(2776-2778)gCt>gAt p.A926D LPHN2_ENST00000370721.1_Missense_Mutation_p.A851D|LPHN2_ENST00000370717.2_Missense_Mutation_p.A926D|LPHN2_ENST00000370713.1_Missense_Mutation_p.A913D|LPHN2_ENST00000370727.1_Missense_Mutation_p.A926D|LPHN2_ENST00000370723.1_Missense_Mutation_p.A913D|LPHN2_ENST00000359929.3_Missense_Mutation_p.A913D|LPHN2_ENST00000370730.1_Missense_Mutation_p.A926D|LPHN2_ENST00000271029.4_Missense_Mutation_p.A926D|LPHN2_ENST00000335786.5_Missense_Mutation_p.A926D|LPHN2_ENST00000370715.1_Missense_Mutation_p.A913D|LPHN2_ENST00000394879.1_Missense_Mutation_p.A913D|LPHN2_ENST00000319517.6_Missense_Mutation_p.A913D|LPHN2_ENST00000370725.1_Missense_Mutation_p.A926D|LPHN2_ENST00000469377.2_Intron O95490 LPHN2_HUMAN latrophilin 2 926 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GCAGCTTTTGCTTGGATGTGC 0.358000 67 230 6.52717e-41 7.34307e-41 0.139131 1 0 CREBBP 1387 broad.mit.edu 37 16 3786099 3786099 + Missense_Mutation SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:3786099G>C ENST00000262367.5 - 28 5475 c.4666C>G c.(4666-4668)Cta>Gta p.L1556V CREBBP_ENST00000382070.3_Missense_Mutation_p.L1518V NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1556 Interaction with TRERF1.|Poly-Glu. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCTTGTTCTAGTTCCTTAATG 0.478000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 50 107 0 0 0.139131 0 0 MCM3 4172 broad.mit.edu 37 6 52129395 52129395 + Missense_Mutation SNP G G T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:52129395G>T ENST00000596288.1 - 17 2580 c.2553C>A c.(2551-2553)ttC>ttA p.F851L MCM3_ENST00000229854.7_Missense_Mutation_p.F806L|MCM3_ENST00000419835.2_Missense_Mutation_p.F760L NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 806 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) CTCAGATGAGGAAGATGATGC 0.542000 36 112 3.62531e-18 3.94402e-18 0.069456 1 0 NLRP13 126204 broad.mit.edu 37 19 56422072 56422072 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:56422072G>A ENST00000588751.1 - 6 2163 c.2139C>T c.(2137-2139)caC>caT p.H713H NLRP13_ENST00000342929.3_Silent_p.H713H Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 713 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TGTTCCATGCGTGCATCCTGG 0.463000 44 129 0 0 0.124865 0 0 KLHL1 57626 broad.mit.edu 37 13 70535475 70535475 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr13:70535475T>A ENST00000377844.4 - 3 1541 c.782A>T c.(781-783)aAt>aTt p.N261I KLHL1_ENST00000545028.1_Missense_Mutation_p.N68I NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 261 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CCAGAGAGCATTGGGGTCTAT 0.383000 44 55 0 0 0.139131 0 0 ASCC3 10973 broad.mit.edu 37 6 101037629 101037629 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:101037629C>T ENST00000369162.2 - 36 5775 c.5431G>A c.(5431-5433)Gaa>Aaa p.E1811K NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1811 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GTTAGAGGTTCAATGCTGCGA 0.343000 61 160 0 0 0.139131 0 0 MYH4 4622 broad.mit.edu 37 17 10356164 10356164 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:10356164G>A ENST00000255381.2 - 25 3307 c.3197C>T c.(3196-3198)gCc>gTc p.A1066V CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1066 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GGATTCTTGGGCCAATTTTAG 0.363000 143 145 0 0 0.139131 0 0 KDM2A 22992 broad.mit.edu 37 11 66985219 66985219 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:66985219C>T ENST00000529006.2 + 9 1151 c.705C>T c.(703-705)ccC>ccT p.P235P KDM2A_ENST00000526258.1_Intron|KDM2A_ENST00000398645.2_Silent_p.P235P NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 235 JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 GGCTCATCCCCCCTACAGCCC 0.483000 5 39 0 0 0.021553 0 0 CHD4 1108 broad.mit.edu 37 12 6690898 6690898 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:6690898G>A ENST00000309577.6 - 30 4845 c.4682C>T c.(4681-4683)cCa>cTa p.P1561L CHD4_ENST00000357008.2_Missense_Mutation_p.P1533L|CHD4_ENST00000544484.1_Missense_Mutation_p.P1558L|CHD4_ENST00000544040.1_Missense_Mutation_p.P1526L|RP5-940J5.6_ENST00000501075.2_RNA Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1533 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GGGTGACCCTGGCTGGGACAT 0.562000 66 154 0 0 0.139131 0 0 DIO1 1733 broad.mit.edu 37 1 54370406 54370406 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:54370406G>A ENST00000361921.3 + 2 429 c.405G>A c.(403-405)caG>caA p.Q135Q DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Silent_p.Q71Q|DIO1_ENST00000524406.1_Silent_p.Q6Q|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000322679.6_Silent_p.Q135Q NM_000792.5|NM_213593.3 NP_000783.2|NP_998758.1 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I 135 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1) 9 AATTTGACCAGTTCAAGAGGC 0.393000 102 209 0 0 0.139131 0 0 SPEG 10290 broad.mit.edu 37 2 220354645 220354645 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:220354645C>T ENST00000312358.7 + 36 9037 c.8905C>T c.(8905-8907)Ctg>Ttg p.L2969L AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2969 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity p.L2969M(1) breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTACACCTTCCTGGAGGAGAA 0.612000 19 55 0 0 0.055883 0 0 TIRAP 114609 broad.mit.edu 37 11 126162997 126162997 + Silent SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:126162997A>T ENST00000392678.3 + 5 1122 c.693A>T c.(691-693)gtA>gtT p.V231V TIRAP_ENST00000392680.2_Intron|RP11-712L6.7_ENST00000533378.1_RNA|TIRAP_ENST00000392679.1_Intron NM_148910.2 NP_683708.1 P58753 TIRAP_HUMAN toll-interleukin 1 receptor (TIR) domain containing adaptor protein 100 3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway endocytic vesicle|intrinsic to membrane|ruffle membrane phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 6 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739) CAGCTACAGTATCTGATCTAC 0.512000 16 24 0 0 0.132662 0 0 MAN1B1 11253 broad.mit.edu 37 9 139990687 139990687 + Splice_Site SNP A A C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:139990687A>C ENST00000371589.4 + 4 538 c.e4-1 MAN1B1_ENST00000474902.1_Splice_Site NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) ATTTCTCTACAGAAGACACAA 0.567000 8 22 0 0 0.069288 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94645394 94645394 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:94645394C>G ENST00000260526.6 - 20 2549 c.2367G>C c.(2365-2367)tgG>tgC p.W789C ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 789 Rho-GAP. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) ACATATTTGGCCATTTTTTGT 0.308000 30 123 0 0 0.116897 0 0 PAPOLB 56903 broad.mit.edu 37 7 4900071 4900071 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr7:4900071G>A ENST00000404991.1 - 1 1554 c.1368C>T c.(1366-1368)ctC>ctT p.L456L RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 456 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) TATCATAGGTGAGATCAATGC 0.363000 92 122 0 0 0.139131 0 0 SIGLECL1 284369 broad.mit.edu 37 19 51768727 51768727 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:51768727G>A ENST00000316401.7 + 3 509 c.128G>A c.(127-129)gGa>gAa p.G43E SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA NM_173635.1 NP_775906.1 SIGLEC family like 1 TGGATGGGAGGAGTCCCCGTG 0.577000 46 85 0 0 0.139131 0 0 ZNF778 197320 broad.mit.edu 37 16 89293174 89293174 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:89293174C>T ENST00000433976.2 + 6 726 c.394C>T c.(394-396)Ctc>Ttc p.L132F ZNF778_ENST00000306502.6_Missense_Mutation_p.L90F NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) ACACTCAGGCCTCAGCACACA 0.463000 15 37 0 0 0.119110 0 0 PIGN 23556 broad.mit.edu 37 18 59777191 59777191 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr18:59777191G>A ENST00000357637.5 - 17 1865 c.1450C>T c.(1450-1452)Ctg>Ttg p.L484L PIGN_ENST00000400334.3_Silent_p.L484L NM_176787.4 NP_789744.1 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, class N 484 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) CTACAAGGCAGGAGATGGCTT 0.343000 3 66 0 0 0.115264 0 0 MFHAS1 9258 broad.mit.edu 37 8 8750418 8750418 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr8:8750418G>A ENST00000276282.6 - 1 737 c.151C>T c.(151-153)Ccc>Tcc p.P51S NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 51 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GGGGAGGCGGGGGACTCGAGC 0.746000 3 6 0 0 0.150653 0 0 TM4SF1 4071 broad.mit.edu 37 3 149089577 149089577 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:149089577G>A ENST00000472441.1 - 2 347 c.224C>T c.(223-225)tCt>tTt p.S75F TM4SF1_ENST00000305366.3_Missense_Mutation_p.S164F P30408 T4S1_HUMAN transmembrane 4 L six family member 1 164 integral to plasma membrane p.S164C(1) endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CAAGAGGATAGAAAACAGAGA 0.433000 46 90 0 0 0.111260 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 5 64 0 0 0.014758 0 0 ZNF578 147660 broad.mit.edu 37 19 53015012 53015012 + Missense_Mutation SNP T T G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:53015012T>G ENST00000421239.2 + 6 1622 c.1378T>G c.(1378-1380)Tgt>Ggt p.C460G CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ATGTGAAGAATGTGACAGAGT 0.378000 24 77 0 0 0.091800 0 0 HIVEP1 3096 broad.mit.edu 37 6 12015862 12015862 + Translation_Start_Site SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:12015862A>T ENST00000379388.2 + 2 333 c.1A>T c.(1-3)Atg>Ttg p.M1L HIVEP1_ENST00000484210.1_Start_Codon_SNP_p.M1L NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GTCAAAGAAGATGCCTCGAAC 0.358000 33 103 0 0 0.183431 0 0 WDR12 55759 broad.mit.edu 37 2 203760839 203760839 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:203760839T>A ENST00000261015.3 - 6 1307 c.558A>T c.(556-558)agA>agT p.R186S NM_018256.3 NP_060726.3 Q9GZL7 WDR12_HUMAN WD repeat domain 12 186 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 CAGCATGACCTCTACAGCAGT 0.378000 53 129 0 0 0.139131 0 0 TBC1D8 11138 broad.mit.edu 37 2 101627939 101627939 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:101627939C>G ENST00000409318.1 - 18 3021 c.2891G>C c.(2890-2892)aGa>aCa p.R964T TBC1D8_ENST00000376840.4_Missense_Mutation_p.R949T|RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 949 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 AACCAGGGGTCTCGATGTTGA 0.483000 42 79 0 0 0.139131 0 0 ZMYM2 7750 broad.mit.edu 37 13 20656229 20656229 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr13:20656229A>G ENST00000382869.3 + 22 3778 c.3527A>G c.(3526-3528)aAt>aGt p.N1176S ZMYM2_ENST00000382874.2_Missense_Mutation_p.N1176S|ZMYM2_ENST00000382871.2_Missense_Mutation_p.N1176S|ZMYM2_ENST00000494061.1_3'UTR|ZMYM2_ENST00000382870.2_Missense_Mutation_p.N556S NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 1176 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CAAGAATTGAATAAAATACTG 0.328000 16 15 0 0 0.160694 0 0 MYH7 4625 broad.mit.edu 37 14 23884668 23884668 + Silent SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:23884668G>A ENST00000355349.3 - 36 5367 c.5205C>T c.(5203-5205)tcC>tcT p.S1735S CTD-2201G16.1_ENST00000557368.1_RNA NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1735 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 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) TCTGGAGCTGGGACAGGTCAG 0.557000 46 125 0 0 0.139131 0 0 SRPX 8406 broad.mit.edu 37 X 38024064 38024064 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chrX:38024064T>A ENST00000378533.3 - 5 717 c.611A>T c.(610-612)gAg>gTg p.E204V SRPX_ENST00000343800.6_Missense_Mutation_p.E191V|SRPX_ENST00000432886.2_Missense_Mutation_p.E145V|SRPX_ENST00000544439.1_Missense_Mutation_p.E184V|SRPX_ENST00000538295.1_Missense_Mutation_p.E204V|TM4SF2_ENST00000465127.1_Intron NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 204 HYR. cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 TTCGGGTGTCTCCCAGGACAC 0.433000 5 34 0 0 0.014758 0 0 TNFRSF6B 8771 broad.mit.edu 37 20 62329691 62329691 + Missense_Mutation SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr20:62329691C>G ENST00000369996.1 + 3 778 c.678C>G c.(676-678)atC>atG p.I226M RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR NM_003823.3 NP_003814.1 O95407 TNF6B_HUMAN tumor necrosis factor receptor superfamily, member 6b, decoy 226 anti-apoptosis|apoptosis extracellular region|soluble fraction protein binding|receptor activity central_nervous_system(1)|lung(2)|skin(1) 4 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) ACATCTCCATCAAGAGGCTGC 0.672000 11 43 0 0 0.069234 0 0 LAIR2 3904 broad.mit.edu 37 19 55020273 55020273 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:55020273C>A ENST00000301202.2 + 4 515 c.393C>A c.(391-393)gaC>gaA p.D131E LAIR2_ENST00000351841.2_Intron NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 131 extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) ACTCCCCGGACACAGAGCCCG 0.632000 20 53 1.42536e-11 1.53381e-11 0.099896 1 0 RP11-386G11.10 0 broad.mit.edu 37 12 49525193 49525193 + RNA SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:49525193G>A ENST00000547712.1 + 0 211 CGGGGCCGGCGCTGGAGCCTC 0.721000 6 4 0 0 0.021553 0 0 PTEN 5728 broad.mit.edu 37 10 89711893 89711893 + Nonsense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr10:89711893C>T ENST00000371953.3 + 6 1868 c.511C>T c.(511-513)Cag>Tag p.Q171* NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 171 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.Q171*(9)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Q171E(2)|p.Q171K(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170_Q171del(1)|p.S170fs*8(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TATTCCCAGTCAGAGGCGCTA 0.353000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 70 105 0 0 0.139131 0 0 ATP13A4 84239 broad.mit.edu 37 3 193220338 193220338 + Missense_Mutation SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:193220338G>C ENST00000342695.4 - 3 647 c.325C>G c.(325-327)Ctc>Gtc p.L109V ATP13A4_ENST00000295548.3_Missense_Mutation_p.L109V|ATP13A4_ENST00000392443.3_Missense_Mutation_p.L109V NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 109 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TCTGTCATGAGAGGGTGGTCA 0.398000 60 122 0 0 0.139131 0 0 MRPL41 64975 broad.mit.edu 37 9 140446898 140446898 + Missense_Mutation SNP C C A rs3210506 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr9:140446898C>A ENST00000371443.5 + 2 1153 c.365C>A c.(364-366)aCa>aAa p.T122K NM_032477.2 NP_115866.1 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 122 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome breast(1)|lung(1) 2 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) TTCGAGCCCACACAGGAGGGA 0.592000 4 76 0.00024832 0.000260145 0.150653 1 0 ADD1 118 broad.mit.edu 37 4 2896318 2896318 + Missense_Mutation SNP A A C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr4:2896318A>C ENST00000355842.3 + 7 1464 c.601A>C c.(601-603)Aat>Cat p.N201H ADD1_ENST00000398125.1_Missense_Mutation_p.N201H|ADD1_ENST00000264758.7_Missense_Mutation_p.N201H|ADD1_ENST00000398123.2_Missense_Mutation_p.N201H|ADD1_ENST00000398129.1_Missense_Mutation_p.N201H|ADD1_ENST00000446856.1_Missense_Mutation_p.N201H|ADD1_ENST00000503455.2_Missense_Mutation_p.N201H|ADD1_ENST00000513328.2_Missense_Mutation_p.N201H P35611 ADDA_HUMAN adducin 1 (alpha) 201 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGTTAAGATCAATCTACAAGG 0.368000 16 30 0 0 0.160694 0 0 CELSR2 1952 broad.mit.edu 37 1 109795731 109795731 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:109795731C>T ENST00000271332.3 + 1 3091 c.3030C>T c.(3028-3030)caC>caT p.H1010H NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1010 Cadherin 8. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTACAGTCCACGTCCGCCTCC 0.577000 22 112 0 0 0.076483 0 0 XPR1 9213 broad.mit.edu 37 1 180805685 180805685 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:180805685A>G ENST00000367590.4 + 11 1532 c.1334A>G c.(1333-1335)tAt>tGt p.Y445C XPR1_ENST00000367589.3_Intron NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 445 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 AAATATACATATGGTGTGCGG 0.403000 35 91 0 0 0.183431 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99358174 99358174 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr4:99358174A>G ENST00000408927.3 + 14 1764 c.1651A>G c.(1651-1653)Atc>Gtc p.I551V RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.I552V|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.I503V|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.I502V|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.I551V|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.I460V NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 551 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TGCTCCTGAAATCAAATATAA 0.343000 T NUP98 T-ALL 37 59 0 0 0.069456 0 0 HJURP 55355 broad.mit.edu 37 2 234749404 234749404 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:234749404C>T ENST00000411486.2 - 8 2087 c.2022G>A c.(2020-2022)agG>agA p.R674R HJURP_ENST00000441687.1_Silent_p.R589R|HJURP_ENST00000432087.1_Silent_p.R620R NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 674 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) ACTGATGGTCCCTCGTGCCAT 0.577000 48 107 0 0 0.139131 0 0 FAM90A1 55138 broad.mit.edu 37 12 8376719 8376719 + Missense_Mutation SNP G G C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:8376719G>C ENST00000538603.1 - 5 774 c.216C>G c.(214-216)aaC>aaG p.N72K FAM90A1_ENST00000307435.6_Missense_Mutation_p.N72K NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 72 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) TTTCCCCAAAGTTCGGTGGAA 0.547000 79 164 0 0 0.139131 0 0 CSMD3 114788 broad.mit.edu 37 8 113697694 113697694 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr8:113697694C>T ENST00000297405.5 - 15 2667 c.2423G>A c.(2422-2424)cGa>cAa p.R808Q CSMD3_ENST00000352409.3_Missense_Mutation_p.R808Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R768Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R704Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 808 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAATTCCAATCGCAGTATGTG 0.408000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 36 97 0 0 0.074837 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24971270 24971270 + Missense_Mutation SNP T T G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:24971270T>G ENST00000289968.6 - 8 673 c.604A>C c.(604-606)Atg>Ctg p.M202L ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M202L|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M202L|ARHGAP17_ENST00000575975.1_5'UTR NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 202 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) TCTTTGGCCATAAAGTTGTAC 0.363000 35 106 0 0 0.086207 0 0 PDZD2 23037 broad.mit.edu 37 5 32058193 32058193 + Silent SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr5:32058193A>G ENST00000438447.1 + 12 2572 c.2184A>G c.(2182-2184)gaA>gaG p.E728E PDZD2_ENST00000282493.3_Silent_p.E728E O15018 PDZD2_HUMAN PDZ domain containing 2 728 PDZ 4. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TCGTCATGGAAGTAACACTCA 0.468000 10 102 0 0 0.080935 0 0 KATNAL1 84056 broad.mit.edu 37 13 30801627 30801627 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr13:30801627C>T ENST00000380615.3 - 9 1236 c.1069G>A c.(1069-1071)Gct>Act p.A357T KATNAL1_ENST00000380617.3_Missense_Mutation_p.A357T NM_032116.4 NP_115492.1 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 357 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) AAATTAGTAGCAGCCAATACC 0.378000 20 43 0 0 0.069288 0 0 CDH10 1008 broad.mit.edu 37 5 24498538 24498538 + Missense_Mutation SNP G G T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr5:24498538G>T ENST00000264463.4 - 9 1991 c.1484C>A c.(1483-1485)aCt>aAt p.T495N CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 495 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ACATACAAAAGTGTCATAGAA 0.393000 HNSCC(23;0.051) 27 232 4.22769e-11 4.52478e-11 0.116897 1 0 FMN2 56776 broad.mit.edu 37 1 240493929 240493929 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:240493929G>A ENST00000319653.9 + 11 4694 c.4464G>A c.(4462-4464)atG>atA p.M1488I FMN2_ENST00000545751.1_Missense_Mutation_p.M84I NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1488 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAGGGGTTATGCAGGTTCTAG 0.388000 27 106 0 0 0.144211 0 0 SPAG17 200162 broad.mit.edu 37 1 118640342 118640342 + Missense_Mutation SNP A A T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:118640342A>T ENST00000336338.5 - 7 1027 c.962T>A c.(961-963)aTg>aAg p.M321K NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 321 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TGCTTTGACCATGTACTCAAG 0.408000 33 75 0 0 0.064281 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_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 2 11 0 0 0.115264 0 0 DRAM1 55332 broad.mit.edu 37 12 102295157 102295157 + Silent SNP T T C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:102295157T>C ENST00000258534.8 + 3 727 c.288T>C c.(286-288)tcT>tcC p.S96S DRAM1_ENST00000544152.1_Silent_p.S96S NM_018370.2 NP_060840.2 Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 96 apoptosis|autophagy integral to membrane|lysosomal membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 ACTTGGTGTCTTTAGTGCTTG 0.408000 23 85 0 0 0.099896 0 0 NPAP1 23742 broad.mit.edu 37 15 24922597 24922597 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr15:24922597C>T ENST00000329468.2 + 1 2057 c.1583C>T c.(1582-1584)tCc>tTc p.S528F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTCCTCTTTCCTTCCTGACT 0.532000 99 293 0 0 0.139131 0 0 COL6A1 1291 broad.mit.edu 37 21 47410318 47410318 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr21:47410318C>T ENST00000361866.3 + 13 1098 c.984C>T c.(982-984)gaC>gaT p.D328D NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 328 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GTGGCATCGACGGGGTGGACG 0.647000 19 56 0 0 0.062417 0 0 OR56A3 390083 broad.mit.edu 37 11 5969347 5969347 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:5969347C>T ENST00000329564.6 + 1 778 c.771C>T c.(769-771)acC>acT p.T257T NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T257T(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTCAGCACCATCCTTCTGG 0.527000 65 227 0 0 0.139131 0 0 ECM1 1893 broad.mit.edu 37 1 150483454 150483454 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:150483454G>A ENST00000369047.4 + 6 613 c.488G>A c.(487-489)cGg>cAg p.R163Q ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.R163Q|ECM1_ENST00000369049.4_Missense_Mutation_p.R190Q NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 163 2 X approximate repeats. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TGGGGCCACCGGCTGGATGGC 0.607000 125 189 0 0 0.139131 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68249583 68249583 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr14:68249583G>A ENST00000347230.4 - 21 4424 c.4286C>T c.(4285-4287)gCc>gTc p.A1429V ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1429V NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1429 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GAGCTGAAGGGCCCGGGACCA 0.532000 80 226 0 0 0.139131 0 0 SETDB1 9869 broad.mit.edu 37 1 150935566 150935566 + Missense_Mutation SNP A A G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:150935566A>G ENST00000271640.5 + 19 3598 c.3408A>G c.(3406-3408)atA>atG p.I1136M SETDB1_ENST00000368969.4_Missense_Mutation_p.I1136M NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 1136 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TCCAGACCATATCCTCTGGCT 0.498000 26 82 0 0 0.099896 0 0 DNAH9 1770 broad.mit.edu 37 17 11550397 11550397 + Missense_Mutation SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:11550397C>A ENST00000262442.3 + 12 2047 c.1979C>A c.(1978-1980)aCa>aAa p.T660K DNAH9_ENST00000454412.2_Missense_Mutation_p.T660K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 660 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGGTATGAGACAAGACTTTAT 0.478000 3 118 0.004672 0.00484323 0.115264 1 0 SNX4 8723 broad.mit.edu 37 3 125176125 125176125 + Silent SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:125176125C>T ENST00000251775.4 - 11 1053 c.1029G>A c.(1027-1029)gaG>gaA p.E343E SNX4_ENST00000536067.1_Silent_p.E198E NM_003794.2 NP_003785.1 O95219 SNX4_HUMAN sorting nexin 4 343 cell communication|endocytic recycling|endocytosis|protein transport cytoplasmic dynein complex|early endosome membrane phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1) 11 TTACCAGTTCCTCACACTGCT 0.458000 39 111 0 0 0.117977 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41736067 41736067 + Missense_Mutation SNP C C T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr22:41736067C>T ENST00000352645.4 + 10 1321 c.1064C>T c.(1063-1065)tCg>tTg p.S355L ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S355L NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 371 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTGCCGTACTCGGAGACCCGG 0.652000 20 61 0 0 0.076483 0 0 NPAP1 23742 broad.mit.edu 37 15 24921512 24921512 + Silent SNP G G A rs35737140 byFrequency TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr15:24921512G>A ENST00000329468.2 + 1 972 c.498G>A c.(496-498)ccG>ccA p.P166P NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.P166P(1) ATGAGGATCCGGTGCAGATCG 0.627000 3 74 0 0 0.115264 0 0 CYP2A13 1553 broad.mit.edu 37 19 41594389 41594389 + Missense_Mutation SNP G G A rs71579358 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr19:41594389G>A ENST00000330436.3 + 1 13 c.13G>A c.(13-15)Ggg>Agg p.G5R NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 5 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GCTGGCCTCAGGGCTGCTTCT 0.557000 17 52 0 0 0.175082 0 0 CFAP221 200373 broad.mit.edu 37 2 120388230 120388230 + Silent SNP C C A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:120388230C>A ENST00000602047.1 + 19 2070 c.958C>A c.(958-960)Cga>Aga p.R320R PCDP1_ENST00000413369.3_Silent_p.R606R Q4G0U5 PCDP1_HUMAN 606 cilium calmodulin binding Colorectal(110;0.196) AAAGCTTGCCCGAGCCCTAAA 0.448000 26 60 7.88262e-20 8.62298e-20 0.083992 1 0 LINC00505 100874049 broad.mit.edu 37 1 46933689 46933692 + RNA DEL ACAC ACAC - rs3058443 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:46933689_46933692delACAC ENST00000455247.1 + 0 88 TCTCTCTCTGacacacacacacac 0.475 3 3 --- --- --- --- FAF1 11124 broad.mit.edu 37 1 51050366 51050367 + Frame_Shift_Ins INS - - T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:51050366_51050367insT ENST00000396153.2 - 10 1408_1409 c.957_958insA c.(955-960)aactccfs p.NS319fs FAF1_ENST00000545823.1_Frame_Shift_Ins_p.NS77fs|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Frame_Shift_Ins_p.NS319fs NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 319 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CTCATTGGAGATTTTCTCAAGG 0.376 45 143 --- --- --- --- PPAP2B 8613 broad.mit.edu 37 1 56990179 56990179 + Frame_Shift_Del DEL C C - TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr1:56990179delC ENST00000371250.3 - 3 896 c.345delG c.(343-345)cgfs p.R115fs NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 115 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 GAATCGTCGACCGCGACTTCT 0.483 30 100 --- --- --- --- ALK 238 broad.mit.edu 37 2 30143057 30143058 + Frame_Shift_Ins INS - - C rs74774946 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:30143057_30143058insC ENST00000389048.3 - 1 1374_1375 c.468_469insG c.(466-471)ggccccfs p.GP156fs ALK_ENST00000431873.1_Frame_Shift_Ins_p.GP156fs NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 156 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TCCCCGGGGGGCCCGACGCAAC 0.663 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 11 50 --- --- --- --- UGT1A1 54658 broad.mit.edu 37 2 234669681 234669682 + Frame_Shift_Ins INS - - GGACAGTCAC rs57307513 byFrequency TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr2:234669681_234669682insGGACAGTCAC ENST00000360418.3 + 1 748_749 c.748_749insGGACAGTCAC c.(748-750)tgcfs p.C250fs UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000305208.5_Frame_Shift_Ins_p.C250fs|UGT1A8_ENST00000373450.4_Intron P22309 UD11_HUMAN 250 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CCTATTGAGCTCTGCATCTGTC 0.470 24 276 --- --- --- --- LINC00882 100302640 broad.mit.edu 37 3 106824710 106824711 + RNA DEL TT TT - rs139188639 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr3:106824710_106824711delTT ENST00000484698.1 - 0 295 tttttatatctttttttttttt 0.450 3 5 --- --- --- --- C6 729 broad.mit.edu 37 5 41160299 41160300 + Frame_Shift_Del DEL AC AC - TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr5:41160299_41160300delAC ENST00000263413.3 - 11 1892_1893 c.1628_1629delGT c.(1627-1629)tfs p.C543fs C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 543 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCCACTCTGACACACACACAG 0.475 7 565 --- --- --- --- SLC39A7 7922 broad.mit.edu 37 6 33171561 33171562 + Frame_Shift_Ins INS - - T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:33171561_33171562insT ENST00000374677.3 + 7 1754_1755 c.1381_1382insT c.(1381-1383)gatfs p.D461fs SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.D461fs NM_006979.2 NP_008910.2 Q92504 S39A7_HUMAN solute carrier family 39 (zinc transporter), member 7 461 CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 GGGAGTTATCATGATGGTGCTG 0.569 23 114 --- --- --- --- GPR115 221393 broad.mit.edu 37 6 47682289 47682290 + Frame_Shift_Ins INS - - T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:47682289_47682290insT ENST00000283303.2 + 6 1566_1567 c.1308_1309insT c.(1306-1311)tcacatfs p.H437fs GPR115_ENST00000327753.3_Frame_Shift_Ins_p.H437fs|GPR115_ENST00000371220.1_Frame_Shift_Ins_p.H494fs NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 437 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 CGGAGATATCATACATGCGTCA 0.485 89 241 --- --- --- --- KLHL31 401265 broad.mit.edu 37 6 53516534 53516534 + Frame_Shift_Del DEL G G - TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr6:53516534delG ENST00000370905.3 - 3 1907 c.1767delC c.(1765-1767)ccfs p.P589fs KLHL31_ENST00000407079.1_Frame_Shift_Del_p.P589fs NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) CGTTGAGCTCGGGGCTGAAGC 0.652 OREG0017507 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 97 --- --- --- --- TMEM106B 54664 broad.mit.edu 37 7 12263908 12263909 + Frame_Shift_Ins INS - - G TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr7:12263908_12263909insG ENST00000396667.2 + 5 660_661 c.338_339insG c.(337-339)gttfs p.V113fs TMEM106B_ENST00000396668.3_Frame_Shift_Ins_p.V113fs NM_018374.3 NP_060844.2 Q9NUM4 T106B_HUMAN transmembrane protein 106B 113 integral to membrane NS(1)|endometrium(8)|large_intestine(2)|lung(7) 18 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) GGATTGGCTGTGTTTTTCCTTT 0.371 13 556 --- --- --- --- OR5P2 120065 broad.mit.edu 37 11 7817968 7817969 + Frame_Shift_Ins INS - - A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr11:7817968_7817969insA ENST00000329434.2 - 1 551_552 c.521_522insT c.(520-522)ttgfs p.L174fs RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGAAATCACAGAAAAAATGATT 0.386 31 73 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55794772 55794773 + Frame_Shift_Ins INS - - T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:55794772_55794773insT ENST00000379665.2 + 1 559_560 c.460_461insT c.(460-462)tttfs p.F154fs NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TTTTCTCATTATTTTTCCCCCC 0.436 19 355 --- --- --- --- LOC100507377 100507377 broad.mit.edu 37 12 74669120 74669120 + RNA DEL T T - rs35644413 TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr12:74669120delT ENST00000515416.2 - 0 464 RP11-274M17.3_ENST00000552046.1_RNA TTTTTTGGGGTTTTTTTTTTT 0.308 3 2 --- --- --- --- RASGRP1 10125 broad.mit.edu 37 15 38794593 38794594 + Frame_Shift_Ins INS - - T TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr15:38794593_38794594insT ENST00000310803.5 - 12 1634_1635 c.1457_1458insA c.(1456-1458)cgafs p.R486fs RASGRP1_ENST00000558164.1_Frame_Shift_Ins_p.R451fs|RASGRP1_ENST00000559830.1_Frame_Shift_Ins_p.R451fs|RASGRP1_ENST00000539159.1_Frame_Shift_Ins_p.R438fs|RASGRP1_ENST00000561180.1_Frame_Shift_Ins_p.R537fs|RASGRP1_ENST00000450598.2_Frame_Shift_Ins_p.R451fs NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 486 EF-hand 1. cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TGTATCCATCCTGGTCGTGATC 0.391 17 29 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 5 4 --- --- --- --- ACSF2 80221 broad.mit.edu 37 17 48540530 48540531 + Frame_Shift_Ins INS - - C TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:48540530_48540531insC ENST00000427954.2 + 8 924_925 c.881_882insC c.(880-882)accfs p.T294fs ACSF2_ENST00000502667.1_Frame_Shift_Ins_p.T256fs|ACSF2_ENST00000541920.1_Frame_Shift_Ins_p.T109fs|ACSF2_ENST00000300441.4_Frame_Shift_Ins_p.T269fs|ACSF2_ENST00000504392.1_Frame_Shift_Ins_p.T226fs Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 269 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) ACAACAGGCAGCCCCAAGGGGG 0.589 36 326 --- --- --- --- RECQL5 9400 broad.mit.edu 37 17 73626918 73626919 + Splice_Site INS - - TG rs142406301 by1000genomes TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c84e904-0cbc-4645-b7e5-94ec45e61268 c28b58ca-f8e1-4063-908e-3ecf58104b68 g.chr17:73626918_73626919insTG ENST00000317905.5 - 12 1745 c.e12-1 RECQL5_ENST00000443199.2_Splice_Site|RECQL5_ENST00000423245.2_Splice_Site NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding p.?(1) breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CAGTTCTCATCTGTGGGGGGGG 0.644 Other identified genes with known or suspected DNA repair function 5 9 --- --- --- ---