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 DUSP27 92235 broad.mit.edu 37 1 167095421 167095421 + Silent SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr1:167095421C>T ENST00000361200.2 + 6 1219 c.1053C>T c.(1051-1053)taC>taT p.Y351Y DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Silent_p.Y351Y|DUSP27_ENST00000443333.1_Silent_p.Y351Y Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 351 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity p.Y351Y(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AGAAACTGTACGAGCAGTGGA 0.662000 5 18 0 0 0.001168 0 0 SLX4 84464 broad.mit.edu 37 16 3658496 3658496 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr16:3658496G>A ENST00000294008.3 - 2 1110 c.470C>T c.(469-471)gCa>gTa p.A157V NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 157 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding p.A157V(1) breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GGTGTTTTGTGCTGTTTCCCG 0.522000 Direct reversal of damage 6 142 0 0 0.001984 0 0 PSG11 5680 broad.mit.edu 37 19 43519267 43519267 + Splice_Site SNP C C A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr19:43519267C>A ENST00000401740.1 - 4 1068 c.e4+1 PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000403486.1_Splice_Site|PSG11_ENST00000306322.7_Splice_Site Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 female pregnancy extracellular region p.?(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) GATCCACTTACCAATGACTCT 0.473000 12 158 1.08611e-07 1.3935e-07 0.000978 1 0 GFM2 84340 broad.mit.edu 37 5 74056731 74056731 + Silent SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr5:74056731T>C ENST00000296805.3 - 3 601 c.144A>G c.(142-144)ctA>ctG p.L48L GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000427854.2_Silent_p.L48L|GFM2_ENST00000345239.2_Silent_p.L48L NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 48 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity p.L48L(1) breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) TTGTACCTGGTAGAGAACTGC 0.338000 6 174 0 0 0.003080 0 0 OR2G6 391211 broad.mit.edu 37 1 248685462 248685462 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr1:248685462G>A ENST00000343414.4 + 1 547 c.515G>A c.(514-516)cGc>cAc p.R172H NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R172H(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTGGTCATCGCACACTGGAT 0.552000 4 66 0 0 0.000248 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 9 69 0 0 0.008291 0 0 CLEC1A 51267 broad.mit.edu 37 12 10233907 10233907 + Missense_Mutation SNP T T A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr12:10233907T>A ENST00000315330.4 - 3 382 c.320A>T c.(319-321)aAt>aTt p.N107I CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|CLEC1A_ENST00000420265.2_Intron NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 107 cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity p.N107I(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 AAGCTTTATATTCTGGACTTG 0.448000 5 92 0 0 0.000602 0 0 CDH1 999 broad.mit.edu 37 16 68846165 68846165 + Splice_Site SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr16:68846165C>T ENST00000261769.5 + 8 1327 c.1137_splice c.e8+1 p.T379_splice CDH1_ENST00000422392.2_Splice_Site_p.T379_splice|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 379 Cadherin 3. 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.T379M(2)|p.S337_T379del(1)|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) AATCCCACCACGGTAATTCTA 0.453000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 6 65 0 0 0.001984 0 0 BRD9 65980 broad.mit.edu 37 5 889273 889273 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr5:889273G>A ENST00000323510.4 - 2 120 c.121C>T c.(121-123)Ccc>Tcc p.P41S BRD9_ENST00000467963.1_Missense_Mutation_p.P157S|BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000483173.1_Missense_Mutation_p.P104S|BRD9_ENST00000435709.2_Missense_Mutation_p.P41S Q9H8M2 BRD9_HUMAN bromodomain containing 9 157 nucleic acid binding p.P41S(1)|p.P157S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) AATCCATGGGGATCTTTTCTG 0.343000 13 15 0 0 0.003163 0 0 PRKAA2 5563 broad.mit.edu 37 1 57173364 57173364 + Missense_Mutation SNP T T A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr1:57173364T>A ENST00000371244.4 + 9 1703 c.1637T>A c.(1636-1638)cTg>cAg p.L546Q NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 546 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding p.L546Q(3) breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TGTGCCAGTCTGATTACTACT 0.388000 4 142 0 0 0.000602 0 0 LRP8 7804 broad.mit.edu 37 1 53728131 53728131 + Silent SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr1:53728131G>A ENST00000306052.6 - 11 1862 c.1761C>T c.(1759-1761)aaC>aaT p.N587N LRP8_ENST00000465675.1_Silent_p.N140N|LRP8_ENST00000371454.2_Silent_p.N587N|LRP8_ENST00000354412.3_Silent_p.N458N|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000347547.2_Silent_p.N417N NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 587 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity p.N587N(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 GGGTGATTCCGTTGGGCCATT 0.537000 5 206 0 0 0.001168 0 0 PCDHB5 0 broad.mit.edu 37 5 140516811 140516811 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr5:140516811G>A ENST00000231134.5 + 1 2012 c.1795G>A c.(1795-1797)Gcc>Acc p.A599T NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 599 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding p.A599T(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCCAGAACGCCTGGCTGTC 0.716000 20 62 0 0 0.002299 0 0 TTN 7273 broad.mit.edu 37 2 179432336 179432336 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr2:179432336G>A ENST00000589042.1 - 326 78747 c.78523C>T c.(78523-78525)Ccc>Tcc p.P26175S TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24534S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24534 Fibronectin type-III 90. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P17110S(2)|p.P23605S(1)|p.P17235S(1)|p.P23607S(1)|p.P17302S(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTCAGAGGGTTTACTTATT 0.388000 6 92 0 0 0.001168 0 0 GCNT2 2651 broad.mit.edu 37 6 10586319 10586319 + Missense_Mutation SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr6:10586319T>C ENST00000265012.4 + 1 341 c.97T>C c.(97-99)Tat>Cat p.Y33H GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron NM_145655.3 NP_663630.2 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 34 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity p.Y33H(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GCCAAAAAGTTATGAGAAGCT 0.388000 4 156 0 0 0.000602 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 68 0 0 0.004672 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626466 1626466 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr8:1626466C>T ENST00000421627.2 + 9 2269 c.2135C>T c.(2134-2136)aCg>aTg p.T712M DLGAP2_ENST00000524065.1_3'UTR NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 791 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding p.T756M(1)|p.T720M(1) breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CACATCACCACGGAGGACAAA 0.622000 17 53 0 0 0.004007 0 0 CHMP4A 29082 broad.mit.edu 37 14 24682652 24682652 + Missense_Mutation SNP C C G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr14:24682652C>G ENST00000347519.6 - 1 423 c.123G>C c.(121-123)gaG>gaC p.E41D TM9SF1_ENST00000556387.1_5'UTR|TM9SF1_ENST00000530611.1_5'UTR|AL136419.6_ENST00000565988.1_RNA NM_014169.3 NP_054888.2 charged multivesicular body protein 4A p.E41D(1) NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 GBM - Glioblastoma multiforme(265;0.0181) TCATCGCGAGCTCGCCTCTCC 0.672000 6 50 0 0 0.001168 0 0 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 3 86 0 0 0.000602 0 0 TKT 7086 broad.mit.edu 37 3 53263147 53263147 + Missense_Mutation SNP T T A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr3:53263147T>A ENST00000462138.1 - 10 1359 c.1271A>T c.(1270-1272)gAc>gTc p.D424V TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.D432V|TKT_ENST00000423525.2_Missense_Mutation_p.D424V P29401 TKT_HUMAN transketolase 424 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity p.D424V(1) endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) GGAGGGCCCGTCTTCCCCTGG 0.572000 5 157 0 0 0.001168 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95514946 95514946 + RNA SNP C C T rs143937878 by1000genomes TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr2:95514946C>T ENST00000432432.2 - 0 711 NR_040113.1 p.R201Q(1) ACTACTGTACCGTCTCAGCCT 0.308000 4 228 0 0 0.000602 0 0 EMR2 30817 broad.mit.edu 37 19 14875286 14875286 + Missense_Mutation SNP A A C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr19:14875286A>C ENST00000315576.3 - 11 1494 c.1043T>G c.(1042-1044)cTt>cGt p.L348R EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 348 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.L348R(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 CCCATTGGAAAGGTTCTTGCT 0.577000 3 63 0 0 0.000248 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18504896 18504896 + Missense_Mutation SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr9:18504896T>C ENST00000380548.4 + 2 472 c.133T>C c.(133-135)Tgc>Cgc p.C45R ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 45 TSP type-1 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.C45R(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) ATGGAGTGAATGCTCACGCAC 0.607000 11 98 0 0 0.008291 0 0 FGA 2243 broad.mit.edu 37 4 155506852 155506852 + Missense_Mutation SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr4:155506852A>G ENST00000302053.3 - 5 1807 c.1729T>C c.(1729-1731)Tca>Cca p.S577P FGA_ENST00000403106.3_Missense_Mutation_p.S577P NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 577 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.S577P(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CTGTAACTTGAAGATTTACCA 0.443000 25 82 0 0 0.003330 0 0 PREX2 80243 broad.mit.edu 37 8 68950516 68950516 + Missense_Mutation SNP A A T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr8:68950516A>T ENST00000288368.4 + 7 1105 c.828A>T c.(826-828)aaA>aaT p.K276N PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 276 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.K276N(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TGTACTGCAAAAGAAAACACA 0.403000 14 33 0 0 0.002450 0 0 KIAA1217 56243 broad.mit.edu 37 10 24508665 24508665 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr10:24508665C>T ENST00000376454.3 + 2 211 c.181C>T c.(181-183)Cgc>Tgc p.R61C KIAA1217_ENST00000376452.3_Missense_Mutation_p.R61C|KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R61C NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 61 embryonic skeletal system development cytoplasm p.R61C(1) breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CAAGTCTTCCCGCAATATCCC 0.498000 12 57 0 0 0.001368 0 0 TRIM51HP 0 broad.mit.edu 37 11 55064978 55064978 + RNA SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr11:55064978T>C ENST00000526016.1 - 0 447 NR_038174.2 GTTCTGGTGGTTTCCATGTTC 0.408000 12 36 0 0 0.001855 0 0 SERPINF1 5176 broad.mit.edu 37 17 1679918 1679918 + Silent SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr17:1679918C>T ENST00000254722.4 + 7 1042 c.879C>T c.(877-879)ctC>ctT p.L293L NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 293 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity p.L293L(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 AGGAGAGCCTCACCTCCGAGT 0.522000 5 166 0 0 0.000602 0 0 PCDHB12 0 broad.mit.edu 37 5 140590277 140590277 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr5:140590277G>A ENST00000239450.2 + 1 1987 c.1798G>A c.(1798-1800)Gcc>Acc p.A600T PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 600 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.A600T(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCCAGAACGCCTGGCTGTC 0.716000 7 234 0 0 0.008291 0 0 VAC14 55697 broad.mit.edu 37 16 70818709 70818709 + Silent SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr16:70818709G>A ENST00000261776.5 - 4 716 c.456C>T c.(454-456)agC>agT p.S152S NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 152 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity p.S152S(1) breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) GCTCAGATCCGCTTTTCACAT 0.502000 8 165 0 0 0.004482 0 0 KLK3 354 broad.mit.edu 37 19 51361766 51361766 + Missense_Mutation SNP A A C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr19:51361766A>C ENST00000360617.3 + 4 545 c.545A>C c.(544-546)gAc>gCc p.D182A KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000326003.2_Missense_Mutation_p.D182A P07288 KLK3_HUMAN kallikrein-related peptidase 3 182 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity p.D182A(2) breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) ATTTCCAATGACGTGTGTGCG 0.547000 6 175 0 0 0.001984 0 0 OR2M2 391194 broad.mit.edu 37 1 248343988 248343988 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr1:248343988G>A ENST00000359682.2 + 1 701 c.701G>A c.(700-702)cGt>cAt p.R234H NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R234H(2) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGAGAGGGTCGTTGCAAAGCT 0.468000 35 79 0 0 0.004289 0 0 GNAS 2778 broad.mit.edu 37 20 57415470 57415470 + Silent SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr20:57415470C>T ENST00000313949.7 + 1 698 c.309C>T c.(307-309)taC>taT p.Y103Y GNAS_ENST00000371098.2_Silent_p.Y103Y|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Silent_p.Y103Y P63092 GNAS2_HUMAN GNAS complex locus 105 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.Y103Y(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCCTAGAGTACGAGGAAGAGT 0.627000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 32 91 0 0 0.002096 0 0 LRRC43 254050 broad.mit.edu 37 12 122669084 122669084 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr12:122669084C>T ENST00000339777.4 + 2 197 c.169C>T c.(169-171)Cct>Tct p.P57S LRRC43_ENST00000425921.1_5'UTR NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 57 p.P57S(1) NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) GCGCTTTCTTCCTCAAACTTG 0.562000 3 33 0 0 0.004672 0 0 CEP97 79598 broad.mit.edu 37 3 101450746 101450746 + Missense_Mutation SNP A A T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr3:101450746A>T ENST00000341893.3 + 5 1262 c.510A>T c.(508-510)agA>agT p.R170S CEP97_ENST00000327230.4_Missense_Mutation_p.R170S|CEP97_ENST00000494050.1_Missense_Mutation_p.R170S Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 170 centrosome|nucleus protein binding p.R170S(2) cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 ACCTACCCAGAAGTCTTGCTA 0.373000 7 140 0 0 0.001984 0 0 OR4X1 390113 broad.mit.edu 37 11 48286184 48286184 + Missense_Mutation SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr11:48286184A>G ENST00000320048.1 + 1 772 c.772A>G c.(772-774)Agg>Ggg p.R258G NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R258G(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GGTCTATATTAGGCCCTGTGT 0.493000 3 221 0 0 0.000248 0 0 OPN5 221391 broad.mit.edu 37 6 47763181 47763181 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr6:47763181C>T ENST00000489301.2 + 4 723 c.638C>T c.(637-639)gCt>gTt p.A213V OPN5_ENST00000371211.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.A213V Q6U736 OPN5_HUMAN opsin 5 213 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity p.A213V(1) endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 CTCCCAACGGCTGTGATCGTG 0.542000 32 80 0 0 0.008361 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 59 0 0 0.004672 0 0 ATP6V1F 9296 broad.mit.edu 37 7 128503029 128503029 + Missense_Mutation SNP G G A rs10958 TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr7:128503029G>A ENST00000492758.1 + 1 72 c.71G>A c.(70-72)gGc>gAc p.G24D ATP6V1F_ENST00000249289.4_Missense_Mutation_p.G24D NM_001198909.1 NP_001185838.1 Q16864 VATF_HUMAN ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F 24 G -> V (in dbSNP:rs10958). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism p.G24D(1) lung(1)|ovary(1)|prostate(1) 3 CTGCTGGGCGGCATAGGGGAG 0.582000 OREG0018299 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 99 0 0 0.000248 0 0 GCK 2645 broad.mit.edu 37 7 44185094 44185094 + Splice_Site SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr7:44185094A>G ENST00000403799.3 - 9 1723 c.e9+1 GCK_ENST00000345378.2_Splice_Site|GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000395796.3_Splice_Site NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding p.?(2) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 GGGCGGGCTCACCTGGGGTGC 0.627000 3 9 0 0 0.000248 0 0 TAOK1 57551 broad.mit.edu 37 17 27844648 27844648 + Missense_Mutation SNP A A C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr17:27844648A>C ENST00000261716.3 + 16 2401 c.1882A>C c.(1882-1884)Aac>Cac p.N628H TAOK1_ENST00000536202.1_Intron NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 628 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity p.N628H(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) TGGGCGTCATAACTTAGAGCA 0.393000 28 97 0 0 0.001786 0 0 GSTM5 2949 broad.mit.edu 37 1 110257972 110257972 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr1:110257972C>T ENST00000369813.1 + 5 1459 c.554C>T c.(553-555)aCg>aTg p.T185M GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Intron P46439 GSTM5_HUMAN glutathione S-transferase mu 5 0 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) gtattgagtacgggcttcatg 0.433000 6 6 0 0 0.001168 0 0 UNC45B 146862 broad.mit.edu 37 17 33504058 33504058 + Missense_Mutation SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr17:33504058A>G ENST00000268876.5 + 16 2151 c.2054A>G c.(2053-2055)gAg>gGg p.E685G UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G|UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G|UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 685 cell differentiation|muscle organ development cytosol binding p.E685G(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CTGGCTTTGGAGGGCACAGAT 0.572000 3 133 0 0 0.000602 0 0 COL27A1 85301 broad.mit.edu 37 9 117052373 117052373 + Silent SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr9:117052373A>G ENST00000356083.3 + 46 4633 c.4242A>G c.(4240-4242)ccA>ccG p.P1414P NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1414 Collagen-like 13.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent p.P1414P(1) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CAGGGGCCCCAGGCCGGAGGG 0.642000 3 89 0 0 0.000248 0 0 AGPAT3 56894 broad.mit.edu 37 21 45400973 45400973 + Missense_Mutation SNP C C A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr21:45400973C>A ENST00000398063.2 + 8 1439 c.947C>A c.(946-948)aCc>aAc p.T316N AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 316 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity p.T316N(1) large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TCCTGGGCCACCATTCTCCTG 0.552000 4 121 1.23904e-05 1.56027e-05 0.000602 1 0 TBCD 6904 broad.mit.edu 37 17 80726352 80726352 + Silent SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr17:80726352T>C ENST00000355528.4 + 5 622 c.492T>C c.(490-492)ccT>ccC p.P164P TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.P164P NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 164 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GCCTGATCCCTTTTGATTTTT 0.473000 4 297 0 0 0.000248 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 48 0 0 0.000248 0 0 MBOAT7 79143 broad.mit.edu 37 19 54692085 54692085 + Missense_Mutation SNP A A C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr19:54692085A>C ENST00000245615.1 - 3 672 c.192T>G c.(190-192)atT>atG p.I64M MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 64 phospholipid biosynthetic process integral to membrane acyltransferase activity p.I64M(1) endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCTGGGCCTGAATGAGGGCCC 0.607000 3 97 0 0 0.004672 0 0 RP11-377D9.3 0 broad.mit.edu 37 12 13155157 13155157 + RNA SNP T T G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr12:13155157T>G ENST00000543321.1 + 0 31 HTR7P1_ENST00000535469.1_RNA p.S537A(1) CACGATTTACTCCACCGCAGT 0.478000 3 13 0 0 0.000248 0 0 SPTA1 6708 broad.mit.edu 37 1 158637764 158637764 + Missense_Mutation SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr1:158637764T>C ENST00000368148.3 - 15 2102 c.1922A>G c.(1921-1923)cAg>cGg p.Q641R SPTA1_ENST00000368147.3_Missense_Mutation_p.Q641R NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 641 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.Q641R(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GCCAGTTTTCTGTATGTTTTC 0.468000 12 130 0 0 0.003163 0 0 PSPC1 55269 broad.mit.edu 37 13 20277328 20277328 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr13:20277328C>T ENST00000338910.4 - 9 1718 c.1559G>A c.(1558-1560)cGt>cAt p.R520H NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 520 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding p.R520H(1) breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) ATATCTACGACGCTTATTAGG 0.433000 7 81 0 0 0.006214 0 0 DUSP27 92235 broad.mit.edu 37 1 167095421 167095421 + Silent SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr1:167095421C>T ENST00000361200.2 + 6 1219 c.1053C>T c.(1051-1053)taC>taT p.Y351Y DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Silent_p.Y351Y Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 351 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity p.Y351Y(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AGAAACTGTACGAGCAGTGGA 0.662000 5 18 0 0 0.001168 0 0 SLX4 84464 broad.mit.edu 37 16 3658496 3658496 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr16:3658496G>A ENST00000294008.3 - 2 1110 c.470C>T c.(469-471)gCa>gTa p.A157V NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 157 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding p.A157V(1) breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GGTGTTTTGTGCTGTTTCCCG 0.522000 Direct reversal of damage 6 142 0 0 0.001984 0 0 PSG11 5680 broad.mit.edu 37 19 43519267 43519267 + Splice_Site SNP C C A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr19:43519267C>A ENST00000401740.1 - 4 1068 c.e4+1 PSG11_ENST00000306322.7_Splice_Site|PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000403486.1_Splice_Site Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 female pregnancy extracellular region p.?(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) GATCCACTTACCAATGACTCT 0.473000 12 158 1.08611e-07 1.3935e-07 0.000978 1 0 GFM2 84340 broad.mit.edu 37 5 74056731 74056731 + Silent SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr5:74056731T>C ENST00000296805.3 - 3 601 c.144A>G c.(142-144)ctA>ctG p.L48L GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000345239.2_Silent_p.L48L|GFM2_ENST00000427854.2_Silent_p.L48L NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 48 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity p.L48L(1) breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) TTGTACCTGGTAGAGAACTGC 0.338000 6 174 0 0 0.003080 0 0 OR2G6 391211 broad.mit.edu 37 1 248685462 248685462 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr1:248685462G>A ENST00000343414.4 + 1 547 c.515G>A c.(514-516)cGc>cAc p.R172H NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R172H(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTGGTCATCGCACACTGGAT 0.552000 4 66 0 0 0.000248 0 0 CLEC1A 51267 broad.mit.edu 37 12 10233907 10233907 + Missense_Mutation SNP T T A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr12:10233907T>A ENST00000315330.4 - 3 382 c.320A>T c.(319-321)aAt>aTt p.N107I CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|CLEC1A_ENST00000420265.2_Intron NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 107 cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity p.N107I(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 AAGCTTTATATTCTGGACTTG 0.448000 5 92 0 0 0.000602 0 0 AFF3 3899 broad.mit.edu 37 2 100210742 100210742 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr2:100210742C>T ENST00000317233.4 - 14 1616 c.1381G>A c.(1381-1383)Gca>Aca p.A461T AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T|AFF3_ENST00000409236.1_Missense_Mutation_p.A461T NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 461 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.A486T(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TTAGAGGATGCCGGTTCAGCC 0.443000 4 232 0 0 0.000602 0 0 BRD9 65980 broad.mit.edu 37 5 889273 889273 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr5:889273G>A ENST00000323510.4 - 2 120 c.121C>T c.(121-123)Ccc>Tcc p.P41S BRD9_ENST00000435709.2_Missense_Mutation_p.P41S|BRD9_ENST00000483173.1_Missense_Mutation_p.P104S|BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000467963.1_Missense_Mutation_p.P157S Q9H8M2 BRD9_HUMAN bromodomain containing 9 157 nucleic acid binding p.P41S(1)|p.P157S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) AATCCATGGGGATCTTTTCTG 0.343000 13 15 0 0 0.003163 0 0 PRKAA2 5563 broad.mit.edu 37 1 57173364 57173364 + Missense_Mutation SNP T T A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr1:57173364T>A ENST00000371244.4 + 9 1703 c.1637T>A c.(1636-1638)cTg>cAg p.L546Q NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 546 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding p.L546Q(3) breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TGTGCCAGTCTGATTACTACT 0.388000 4 142 0 0 0.000602 0 0 LRP8 7804 broad.mit.edu 37 1 53728131 53728131 + Silent SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr1:53728131G>A ENST00000306052.6 - 11 1862 c.1761C>T c.(1759-1761)aaC>aaT p.N587N LRP8_ENST00000347547.2_Silent_p.N417N|LRP8_ENST00000465675.1_Silent_p.N140N|LRP8_ENST00000371454.2_Silent_p.N587N|LRP8_ENST00000354412.3_Silent_p.N458N|LRP8_ENST00000460214.1_5'UTR NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 587 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity p.N587N(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 GGGTGATTCCGTTGGGCCATT 0.537000 5 206 0 0 0.001168 0 0 PCDHB5 0 broad.mit.edu 37 5 140516811 140516811 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr5:140516811G>A ENST00000231134.5 + 1 2012 c.1795G>A c.(1795-1797)Gcc>Acc p.A599T NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 599 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding p.A599T(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCCAGAACGCCTGGCTGTC 0.716000 20 62 0 0 0.002299 0 0 TTN 7273 broad.mit.edu 37 2 179432336 179432336 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr2:179432336G>A ENST00000589042.1 - 326 78747 c.78523C>T c.(78523-78525)Ccc>Tcc p.P26175S TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24534S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24534 Fibronectin type-III 90. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P17110S(2)|p.P23605S(1)|p.P17235S(1)|p.P23607S(1)|p.P17302S(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTCAGAGGGTTTACTTATT 0.388000 6 92 0 0 0.001168 0 0 GCNT2 2651 broad.mit.edu 37 6 10586319 10586319 + Missense_Mutation SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr6:10586319T>C ENST00000265012.4 + 1 341 c.97T>C c.(97-99)Tat>Cat p.Y33H GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron NM_145655.3 NP_663630.2 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 34 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity p.Y33H(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GCCAAAAAGTTATGAGAAGCT 0.388000 4 156 0 0 0.000602 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626466 1626466 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr8:1626466C>T ENST00000421627.2 + 9 2269 c.2135C>T c.(2134-2136)aCg>aTg p.T712M DLGAP2_ENST00000524065.1_3'UTR NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 791 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding p.T756M(1)|p.T720M(1) breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CACATCACCACGGAGGACAAA 0.622000 17 53 0 0 0.004007 0 0 CHMP4A 29082 broad.mit.edu 37 14 24682652 24682652 + Missense_Mutation SNP C C G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr14:24682652C>G ENST00000347519.6 - 1 423 c.123G>C c.(121-123)gaG>gaC p.E41D TM9SF1_ENST00000556387.1_5'UTR|TM9SF1_ENST00000530611.1_5'UTR|AL136419.6_ENST00000565988.1_RNA NM_014169.3 NP_054888.2 charged multivesicular body protein 4A p.E41D(1) NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 GBM - Glioblastoma multiforme(265;0.0181) TCATCGCGAGCTCGCCTCTCC 0.672000 6 50 0 0 0.001168 0 0 CDH1 999 broad.mit.edu 37 16 68846165 68846165 + Splice_Site SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr16:68846165C>T ENST00000261769.5 + 8 1327 c.1137_splice c.e8+1 p.T379_splice CDH1_ENST00000422392.2_Splice_Site_p.T379_splice|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 379 Cadherin 3. 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.T379M(2)|p.S337_T379del(1)|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) AATCCCACCACGGTAATTCTA 0.453000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 6 65 0 0 0.001984 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 68 0 0 0.000248 0 0 TKT 7086 broad.mit.edu 37 3 53263147 53263147 + Missense_Mutation SNP T T A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr3:53263147T>A ENST00000462138.1 - 10 1359 c.1271A>T c.(1270-1272)gAc>gTc p.D424V TKT_ENST00000423516.1_Missense_Mutation_p.D432V|TKT_ENST00000423525.2_Missense_Mutation_p.D424V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Missense_Mutation_p.D377V P29401 TKT_HUMAN transketolase 424 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity p.D424V(1) endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) GGAGGGCCCGTCTTCCCCTGG 0.572000 5 157 0 0 0.001168 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95514946 95514946 + RNA SNP C C T rs143937878 by1000genomes TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr2:95514946C>T ENST00000432432.2 - 0 711 NR_040113.1 p.R201Q(1) ACTACTGTACCGTCTCAGCCT 0.308000 4 228 0 0 0.000602 0 0 EMR2 30817 broad.mit.edu 37 19 14875286 14875286 + Missense_Mutation SNP A A C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr19:14875286A>C ENST00000315576.3 - 11 1494 c.1043T>G c.(1042-1044)cTt>cGt p.L348R EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000392965.3_Missense_Mutation_p.L348R NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 348 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.L348R(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 CCCATTGGAAAGGTTCTTGCT 0.577000 3 63 0 0 0.000248 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18504896 18504896 + Missense_Mutation SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr9:18504896T>C ENST00000380548.4 + 2 472 c.133T>C c.(133-135)Tgc>Cgc p.C45R ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 45 TSP type-1 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.C45R(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) ATGGAGTGAATGCTCACGCAC 0.607000 11 98 0 0 0.008291 0 0 FGA 2243 broad.mit.edu 37 4 155506852 155506852 + Missense_Mutation SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr4:155506852A>G ENST00000302053.3 - 5 1807 c.1729T>C c.(1729-1731)Tca>Cca p.S577P FGA_ENST00000403106.3_Missense_Mutation_p.S577P NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 577 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.S577P(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CTGTAACTTGAAGATTTACCA 0.443000 25 82 0 0 0.003330 0 0 PREX2 80243 broad.mit.edu 37 8 68950516 68950516 + Missense_Mutation SNP A A T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr8:68950516A>T ENST00000288368.4 + 7 1105 c.828A>T c.(826-828)aaA>aaT p.K276N PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 276 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.K276N(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TGTACTGCAAAAGAAAACACA 0.403000 14 33 0 0 0.002450 0 0 PSPC1 55269 broad.mit.edu 37 13 20277328 20277328 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr13:20277328C>T ENST00000338910.4 - 9 1718 c.1559G>A c.(1558-1560)cGt>cAt p.R520H NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 520 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding p.R520H(1) breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) ATATCTACGACGCTTATTAGG 0.433000 7 81 0 0 0.006214 0 0 KIAA1217 56243 broad.mit.edu 37 10 24508665 24508665 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr10:24508665C>T ENST00000376454.3 + 2 211 c.181C>T c.(181-183)Cgc>Tgc p.R61C KIAA1217_ENST00000458595.1_Missense_Mutation_p.R61C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R61C|KIAA1217_ENST00000376462.1_5'UTR NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 61 embryonic skeletal system development cytoplasm p.R61C(1) breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CAAGTCTTCCCGCAATATCCC 0.498000 12 57 0 0 0.001368 0 0 TRIM51HP 0 broad.mit.edu 37 11 55064978 55064978 + RNA SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr11:55064978T>C ENST00000526016.1 - 0 447 NR_038174.2 GTTCTGGTGGTTTCCATGTTC 0.408000 12 36 0 0 0.001855 0 0 SERPINF1 5176 broad.mit.edu 37 17 1679918 1679918 + Silent SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr17:1679918C>T ENST00000254722.4 + 7 1042 c.879C>T c.(877-879)ctC>ctT p.L293L NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 293 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity p.L293L(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 AGGAGAGCCTCACCTCCGAGT 0.522000 5 166 0 0 0.000602 0 0 PCDHB12 0 broad.mit.edu 37 5 140590277 140590277 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr5:140590277G>A ENST00000239450.2 + 1 1987 c.1798G>A c.(1798-1800)Gcc>Acc p.A600T PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 600 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.A600T(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCCAGAACGCCTGGCTGTC 0.716000 7 234 0 0 0.008291 0 0 VAC14 55697 broad.mit.edu 37 16 70818709 70818709 + Silent SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr16:70818709G>A ENST00000261776.5 - 4 716 c.456C>T c.(454-456)agC>agT p.S152S NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 152 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity p.S152S(1) breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) GCTCAGATCCGCTTTTCACAT 0.502000 8 165 0 0 0.004482 0 0 KLK3 354 broad.mit.edu 37 19 51361766 51361766 + Missense_Mutation SNP A A C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr19:51361766A>C ENST00000360617.3 + 4 545 c.545A>C c.(544-546)gAc>gCc p.D182A KLK3_ENST00000326003.2_Missense_Mutation_p.D182A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A|KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A P07288 KLK3_HUMAN kallikrein-related peptidase 3 182 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity p.D182A(2) breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) ATTTCCAATGACGTGTGTGCG 0.547000 6 175 0 0 0.001984 0 0 OR2M2 391194 broad.mit.edu 37 1 248343988 248343988 + Missense_Mutation SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr1:248343988G>A ENST00000359682.2 + 1 701 c.701G>A c.(700-702)cGt>cAt p.R234H NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R234H(2) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGAGAGGGTCGTTGCAAAGCT 0.468000 35 79 0 0 0.004289 0 0 GNAS 2778 broad.mit.edu 37 20 57415470 57415470 + Silent SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr20:57415470C>T ENST00000313949.7 + 1 698 c.309C>T c.(307-309)taC>taT p.Y103Y GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Silent_p.Y103Y|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.Y103Y|GNAS-AS1_ENST00000424094.2_RNA P63092 GNAS2_HUMAN GNAS complex locus 105 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.Y103Y(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCCTAGAGTACGAGGAAGAGT 0.627000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 32 91 0 0 0.002096 0 0 LRRC43 254050 broad.mit.edu 37 12 122669084 122669084 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr12:122669084C>T ENST00000339777.4 + 2 197 c.169C>T c.(169-171)Cct>Tct p.P57S LRRC43_ENST00000425921.1_5'UTR NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 57 p.P57S(1) NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) GCGCTTTCTTCCTCAAACTTG 0.562000 3 33 0 0 0.004672 0 0 CEP97 79598 broad.mit.edu 37 3 101450746 101450746 + Missense_Mutation SNP A A T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr3:101450746A>T ENST00000341893.3 + 5 1262 c.510A>T c.(508-510)agA>agT p.R170S CEP97_ENST00000327230.4_Missense_Mutation_p.R170S|CEP97_ENST00000494050.1_Missense_Mutation_p.R170S Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 170 centrosome|nucleus protein binding p.R170S(2) cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 ACCTACCCAGAAGTCTTGCTA 0.373000 7 140 0 0 0.001984 0 0 OR4X1 390113 broad.mit.edu 37 11 48286184 48286184 + Missense_Mutation SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr11:48286184A>G ENST00000320048.1 + 1 772 c.772A>G c.(772-774)Agg>Ggg p.R258G NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R258G(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GGTCTATATTAGGCCCTGTGT 0.493000 3 221 0 0 0.000248 0 0 OPN5 221391 broad.mit.edu 37 6 47763181 47763181 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr6:47763181C>T ENST00000489301.2 + 4 723 c.638C>T c.(637-639)gCt>gTt p.A213V OPN5_ENST00000393699.2_Missense_Mutation_p.A213V|OPN5_ENST00000371211.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR Q6U736 OPN5_HUMAN opsin 5 213 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity p.A213V(1) endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 CTCCCAACGGCTGTGATCGTG 0.542000 32 80 0 0 0.008361 0 0 ATP6V1F 9296 broad.mit.edu 37 7 128503029 128503029 + Missense_Mutation SNP G G A rs10958 TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr7:128503029G>A ENST00000492758.1 + 1 72 c.71G>A c.(70-72)gGc>gAc p.G24D ATP6V1F_ENST00000249289.4_Missense_Mutation_p.G24D NM_001198909.1 NP_001185838.1 Q16864 VATF_HUMAN ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F 24 G -> V (in dbSNP:rs10958). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism p.G24D(1) lung(1)|ovary(1)|prostate(1) 3 CTGCTGGGCGGCATAGGGGAG 0.582000 OREG0018299 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 99 0 0 0.000248 0 0 GCK 2645 broad.mit.edu 37 7 44185094 44185094 + Splice_Site SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr7:44185094A>G ENST00000403799.3 - 9 1723 c.e9+1 GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000345378.2_Splice_Site NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding p.?(2) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 GGGCGGGCTCACCTGGGGTGC 0.627000 3 9 0 0 0.000248 0 0 TAOK1 57551 broad.mit.edu 37 17 27844648 27844648 + Missense_Mutation SNP A A C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr17:27844648A>C ENST00000261716.3 + 16 2401 c.1882A>C c.(1882-1884)Aac>Cac p.N628H TAOK1_ENST00000536202.1_Intron NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 628 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity p.N628H(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) TGGGCGTCATAACTTAGAGCA 0.393000 28 97 0 0 0.001786 0 0 GSTM5 2949 broad.mit.edu 37 1 110257972 110257972 + Missense_Mutation SNP C C T TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr1:110257972C>T ENST00000369813.1 + 5 1459 c.554C>T c.(553-555)aCg>aTg p.T185M GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Intron P46439 GSTM5_HUMAN glutathione S-transferase mu 5 0 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) gtattgagtacgggcttcatg 0.433000 6 6 0 0 0.001168 0 0 UNC45B 146862 broad.mit.edu 37 17 33504058 33504058 + Missense_Mutation SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr17:33504058A>G ENST00000268876.5 + 16 2151 c.2054A>G c.(2053-2055)gAg>gGg p.E685G UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G|UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G|UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 685 cell differentiation|muscle organ development cytosol binding p.E685G(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CTGGCTTTGGAGGGCACAGAT 0.572000 3 133 0 0 0.000602 0 0 COL27A1 85301 broad.mit.edu 37 9 117052373 117052373 + Silent SNP A A G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr9:117052373A>G ENST00000356083.3 + 46 4633 c.4242A>G c.(4240-4242)ccA>ccG p.P1414P NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1414 Collagen-like 13.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent p.P1414P(1) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CAGGGGCCCCAGGCCGGAGGG 0.642000 3 89 0 0 0.000248 0 0 AGPAT3 56894 broad.mit.edu 37 21 45400973 45400973 + Missense_Mutation SNP C C A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr21:45400973C>A ENST00000398063.2 + 8 1439 c.947C>A c.(946-948)aCc>aAc p.T316N AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 316 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity p.T316N(1) large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TCCTGGGCCACCATTCTCCTG 0.552000 4 121 1.23904e-05 1.56027e-05 0.000602 1 0 TBCD 6904 broad.mit.edu 37 17 80726352 80726352 + Silent SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr17:80726352T>C ENST00000355528.4 + 5 622 c.492T>C c.(490-492)ccT>ccC p.P164P TBCD_ENST00000539345.2_Silent_p.P164P|TBCD_ENST00000397466.2_5'UTR NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 164 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GCCTGATCCCTTTTGATTTTT 0.473000 4 297 0 0 0.000248 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 48 0 0 0.000248 0 0 MBOAT7 79143 broad.mit.edu 37 19 54692085 54692085 + Missense_Mutation SNP A A C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr19:54692085A>C ENST00000245615.1 - 3 672 c.192T>G c.(190-192)atT>atG p.I64M MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 64 phospholipid biosynthetic process integral to membrane acyltransferase activity p.I64M(1) endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCTGGGCCTGAATGAGGGCCC 0.607000 3 97 0 0 0.004672 0 0 RP11-377D9.3 0 broad.mit.edu 37 12 13155157 13155157 + RNA SNP T T G TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr12:13155157T>G ENST00000543321.1 + 0 31 HTR7P1_ENST00000535469.1_RNA p.S537A(1) CACGATTTACTCCACCGCAGT 0.478000 3 13 0 0 0.000248 0 0 SPTA1 6708 broad.mit.edu 37 1 158637764 158637764 + Missense_Mutation SNP T T C TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr1:158637764T>C ENST00000368148.3 - 15 2102 c.1922A>G c.(1921-1923)cAg>cGg p.Q641R SPTA1_ENST00000368147.3_Missense_Mutation_p.Q641R NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 641 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.Q641R(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GCCAGTTTTCTGTATGTTTTC 0.468000 12 130 0 0 0.003163 0 0 CELSR3 1951 broad.mit.edu 37 3 48688391 48688391 + Missense_Mutation SNP C C A TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr3:48688391C>A ENST00000544264.1 - 15 6584 c.6304G>T c.(6304-6306)Gcc>Tcc p.A2102S CELSR3_ENST00000164024.4_Missense_Mutation_p.A2102S Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2102 Laminin EGF-like. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGGCCAAGGGCTCCTGGGCGA 0.677000 6 77 3.59834e-05 4.44885e-05 0.001168 1 0 EOMES 8320 broad.mit.edu 37 3 27763406 27763408 + In_Frame_Del DEL GCG GCG - TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr3:27763406_27763408delGCG ENST00000295743.4 - 1 581_583 c.378_380delCGC c.(376-381)gcg>gc p.AA128del EOMES_ENST00000537516.1_Intron|EOMES_ENST00000449599.1_In_Frame_Del_p.AA128del|EOMES_ENST00000461503.1_Intron O95936 EOMES_HUMAN eomesodermin 128 Ala-rich. CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 ggccgcagccgcggcggcggcgg 0.778 2 4 --- --- --- --- PBX2P1 0 broad.mit.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr3:142895155delC ENST00000560287.1 + 0 29 GGCCTCAGGGCCCCCCCCCAG 0.746 2 4 --- --- --- --- UBR2 23304 broad.mit.edu 37 6 42609419 42609427 + In_Frame_Del DEL CTAGTAAAC CTAGTAAAC - TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr6:42609419_42609427delCTAGTAAAC ENST00000372899.1 + 17 2278_2286 c.2020_2028delCTAGTAAAC c.(2020-2028)del p.LVN674del UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del|UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 674 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TGGGTTCTCTCTAGTAAACCAGGTAAGTG 0.411 31 88 --- --- --- --- SP8 221833 broad.mit.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr7:20824941_20824943delGCC ENST00000361443.4 - 3 676_678 c.439_441delGGC c.(439-441)del p.G147del SP8_ENST00000418710.2_In_Frame_Del_p.G165del NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G165delG(1)|p.G147delG(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGCGGAGGAgccgccgccgccg 0.729 3 5 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 7 167 --- --- --- --- ZNF761 388561 broad.mit.edu 37 19 53946133 53946133 + RNA DEL A A - rs35108555 TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 bab99ce8-a7bc-4637-9322-032ea79b8c23 g.chr19:53946133delA ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TCATGTTGTGAAAAAAAAAAT 0.348 3 4 --- --- --- --- UBR2 23304 broad.mit.edu 37 6 42609419 42609427 + In_Frame_Del DEL CTAGTAAAC CTAGTAAAC - TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr6:42609419_42609427delCTAGTAAAC ENST00000372899.1 + 17 2278_2286 c.2020_2028delCTAGTAAAC c.(2020-2028)del p.LVN674del UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del|UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 674 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TGGGTTCTCTCTAGTAAACCAGGTAAGTG 0.411 31 88 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 7 167 --- --- --- --- RP11-464F9.1 0 broad.mit.edu 37 10 75486922 75486923 + RNA INS - - A rs11387949 TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 769e2ac9-a121-4b2a-a0fd-5f755b579811 3bf351f4-896d-479c-b925-0d0f4b383492 g.chr10:75486922_75486923insA ENST00000399449.3 - 0 427 BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA GCTAACTTAGTAAAGTATAAGA 0.386 4 4 --- --- --- ---