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 ACTL8 81569 broad.mit.edu 37 1 18149715 18149715 + Missense_Mutation SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:18149715G>A uc001bat.3 + 1 428 c.212G>A c.(211-213)cGc>cAc p.R71H NM_030812 NP_110439 Q9H568 ACTL8_HUMAN Homo sapiens actin-like 8 (ACTL8), mRNA. 71 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GAGCGGGGCCGCATCCTCAAC 0.597 SPOCD1 90853 broad.mit.edu 37 1 32280067 32280067 + Missense_Mutation SNP C C T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:32280067C>T uc001bts.1 - 1 926 c.868G>A c.(868-870)Gct>Act p.A290T SPOCD1_uc001btu.3_Missense_Mutation_p.A290T|SPOCD1_uc001btv.3_Intron NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 290 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TCCCCTGTAGCGGGCAAATAT 0.632 PTPRF 5792 broad.mit.edu 37 1 44056912 44056912 + Missense_Mutation SNP C C T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:44056912C>T uc001cjr.3 + 8 1559 c.1219C>T c.(1219-1221)Cgc>Tgc p.R407C PTPRF_uc001cjs.3_Missense_Mutation_p.R407C|PTPRF_uc001cju.3_5'UTR|PTPRF_uc009vwt.3_5'UTR|PTPRF_uc001cjv.3_5'UTR NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 407 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGTGCGGGCACGCACGGGAGA 0.701 CLCA1 1179 broad.mit.edu 37 1 86951220 86951220 + Frame_Shift_Del DEL C C - TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:86951220delC uc001dlt.3 + 5 1190 c.930delC c.(928-930)gtcfs p.V310fs CLCA1_uc001dls.1_Frame_Shift_Del_p.V249fs NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN Homo sapiens chloride channel accessory 1 (CLCA1), mRNA. 310 VWFA. calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) TGTGTTTAGTCCTTGACAAAT 0.448 SLAMF6 114836 broad.mit.edu 37 1 160465979 160465979 + Missense_Mutation SNP C C T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:160465979C>T uc001fwe.2 - 1 324 c.254G>A c.(253-255)cGa>cAa p.R85Q SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Missense_Mutation_p.R85Q|SLAMF6_uc010pjh.2_Missense_Mutation_p.R36Q|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Missense_Mutation_p.R36Q NM_001184714 NP_001171643 Q96DU3 SLAF6_HUMAN Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA. 85 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) GAAGTTCAGTCGCTTTCCCTG 0.463 C1orf49 400798 broad.mit.edu 37 1 178514674 178514674 + Silent SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:178514674G>A uc001glv.1 + C1orf220_uc001glx.1_Non-coding_Transcript Q5T0J7 CA049_HUMAN Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 3, mRNA. microtubule cytoskeleton breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1) 13 tgagattgagggaggctgaaa 0.498 NPHS2 7827 broad.mit.edu 37 1 179520378 179520378 + Missense_Mutation SNP A A G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:179520378A>G uc001gmq.4 - 7 1167 c.1082T>C c.(1081-1083)cTc>cCc p.L361P AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Missense_Mutation_p.L293P|AXDND1_uc001gmr.3_Non-coding_Transcript NM_014625 NP_055440 Q9NP85 PODO_HUMAN Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA. 361 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 TGGGAAGGGGAGGCTTCCCTG 0.473 CENPF 1063 broad.mit.edu 37 1 214816089 214816089 + Missense_Mutation SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:214816089G>A uc001hkm.3 + 11 4582 c.4408G>A c.(4408-4410)Gag>Aag p.E1470K NM_016343 NP_057427 P49454 CENPF_HUMAN Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA. 1566 2 X 96 AA approximate tandem repeats. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.E1470Q(2) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GGGCTTGGAGGAGGGGCTCGT 0.478 EPRS 2058 broad.mit.edu 37 1 220154727 220154727 + Missense_Mutation SNP T T C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:220154727T>C uc001hly.1 - 23 3716 c.3446A>G c.(3445-3447)aAt>aGt p.N1149S RNU5F-1_uc021pjd.1_Intron NM_004446 NP_004437 P07814 SYEP_HUMAN Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA. 1149 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TACCACCACATTGCACCACTG 0.358 ARMC4 55130 broad.mit.edu 37 10 28229643 28229643 + Missense_Mutation SNP G G T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr10:28229643G>T uc009xky.3 - 12 1933 c.1835C>A c.(1834-1836)gCa>gAa p.A612E ARMC4_uc010qds.2_Missense_Mutation_p.A137E|ARMC4_uc010qdt.2_Missense_Mutation_p.A304E|ARMC4_uc001itz.3_Missense_Mutation_p.A612E|ARMC4_uc010qdu.1_Missense_Mutation_p.A304E NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 612 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CAGGGCCAGTGCCCCACAGCG 0.517 PTEN 5728 broad.mit.edu 37 10 89685314 89685314 + Missense_Mutation SNP T T A rs121909226 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr10:89685314T>A uc001kfb.3 + 3 1241 c.209_splice c.e3+1 p.L70_splice PTEN_uc021pvw.1_Intron NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 70 Phosphatase tensin-type. L -> P (in CD). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.L70P(1)|p.R55_L70>S(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ATATACAATCTGTAAGTATGT 0.279 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) CDHR5 53841 broad.mit.edu 37 11 618758 618758 + Missense_Mutation SNP T T C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr11:618758T>C uc001lql.3 - 12 2068 c.1801A>G c.(1801-1803)Aca>Gca p.T601A IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.T601A|CDHR5_uc009ycd.3_Missense_Mutation_p.T595A|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Missense_Mutation_p.T435A NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA. 601 4 X 31 AA approximate tandem repeats. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GTCTGTGCTGTGCCCCCACCG 0.667 CD3E 916 broad.mit.edu 37 11 118184559 118184559 + Nonsense_Mutation SNP C C T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr11:118184559C>T uc001psq.4 + 6 746 c.490C>T c.(490-492)Cga>Tga p.R164* NM_000733 NP_000724 P07766 CD3E_HUMAN Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA. 164 G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway external side of plasma membrane|integral to plasma membrane protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251) Muromonab(DB00075) GCCTGTGACACGAGGAGCGGG 0.597 ABCC9 10060 broad.mit.edu 37 12 22065805 22065805 + Splice_Site DEL C C - TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr12:22065805delC uc001rfh.3 - 6 1031 c.1011_splice c.e6+1 p.G337_splice ABCC9_uc001rfi.1_Splice_Site_p.G337_splice NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 337 ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAGGAACTTACTCCAGTTGTG 0.353 WNT10B 7480 broad.mit.edu 37 12 49361974 49361974 + Silent SNP G G T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr12:49361974G>T uc001rss.3 - 3 910 c.466C>A c.(466-468)Cgg>Agg p.R156R WNT10B_uc001rst.3_Silent_p.R156R NM_003394 NP_003385 O00744 WN10B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA. 156 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity p.R156Q(1) central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4) 23 GCCCTCAGCCGATCCTGCTCA 0.667 EP400 57634 broad.mit.edu 37 12 132471269 132471269 + Missense_Mutation SNP C C A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr12:132471269C>A uc001ujn.3 + 5 2292 c.2140C>A c.(2140-2142)Ccc>Acc p.P714T EP400_uc021rgq.1_Missense_Mutation_p.P713T|EP400_uc001ujm.3_Missense_Mutation_p.P714T|EP400_uc001ujj.2_Missense_Mutation_p.P677T|EP400_uc001ujk.3_Missense_Mutation_p.P750T NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 750 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGCATCTGCCCCCACCAAACC 0.532 RB1 5925 broad.mit.edu 37 13 48919325 48919332 + Frame_Shift_Del DEL AAATTGGA AAATTGGA - rs66624868 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr13:48919325_48919332delAAATTGGA uc001vcb.3 + 3 656_663 c.490_497delAAATTGGA c.(490-498)aaattggaafs p.K164fs RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN Homo sapiens retinoblastoma 1 (RB1), mRNA. 164 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6)|p.E166*(2) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACTCTTCAGCAAATTGGAAAGGTAAAGT 0.284 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) KIAA0317 9870 broad.mit.edu 37 14 75149998 75149998 + Splice_Site SNP C C T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr14:75149998C>T uc001xqb.3 - 5 986 c.481_splice c.e5+1 p.G161_splice KIAA0317_uc010tut.1_Splice_Site NM_001039479 NP_001034568 O15033 K0317_HUMAN Homo sapiens KIAA0317 (KIAA0317), mRNA. 161 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.00404) aaagaaCCTACCAGGTTGAAA 0.388 PGP 283871 broad.mit.edu 37 16 2263929 2263929 + Missense_Mutation SNP C C A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr16:2263929C>A uc002cpk.1 - 1 810 c.766G>T c.(766-768)Gtc>Ttc p.V256F C16orf79_uc002cpi.2_5'Flank|C16orf79_uc010bsh.3_5'Flank NM_001042371 NP_001035830 A6NDG6 PGP_HUMAN Homo sapiens phosphoglycolate phosphatase (PGP), mRNA. 256 carbohydrate metabolic process phosphoglycolate phosphatase activity skin(1) 1 CCCACCATGACGGTGCGCTCG 0.632 CDH5 1003 broad.mit.edu 37 16 66426078 66426078 + Missense_Mutation SNP G G A rs147523967 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr16:66426078G>A uc002eom.4 + 6 1165 c.1009G>A c.(1009-1011)Gtc>Atc p.V337I CDH5_uc002eon.1_Missense_Mutation_p.V337I NM_001795 NP_001786 P33151 CADH5_HUMAN Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA. 337 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CAGCTTCATCGTCGAGGCCAC 0.547 PMFBP1 83449 broad.mit.edu 37 16 72153835 72153835 + Silent SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr16:72153835G>A uc002fcc.4 - 19 3109 c.2937C>T c.(2935-2937)tgC>tgT p.C979C PMFBP1_uc002fcd.3_Silent_p.C974C|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.C849C NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 979 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CCAAGGTGCCGCACACTTTCT 0.557 KARS 3735 broad.mit.edu 37 16 75669879 75669879 + Silent SNP C C T rs143003475 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr16:75669879C>T uc002feq.3 - 4 648 c.600G>A c.(598-600)ccG>ccA p.P200P KARS_uc002fer.3_Silent_p.P228P|KARS_uc010cgz.3_Silent_p.P44P NM_005548 NP_005539 Q15046 SYK_HUMAN Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA. 200 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) TGATCTCATACGGAATGATGC 0.448 OR1G1 8390 broad.mit.edu 37 17 3030338 3030338 + Missense_Mutation SNP C C T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr17:3030338C>T uc002fvc.1 - 0 508 c.508G>A c.(508-510)Gca>Aca p.A170T NM_003555 NP_003546 P47890 OR1G1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA. 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 TCATGGTTTGCGCAGAAGGAC 0.532 TP53 7157 broad.mit.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr17:7577568C>T uc002gim.2 - 6 907 c.713G>A c.(712-714)tGt>tAt p.C238Y TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.3_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 238 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGAACTGTTACACATGTAGTT 0.572 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) TP53 7157 broad.mit.edu 37 17 7578235 7578235 + Missense_Mutation SNP T T C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr17:7578235T>C uc002gim.2 - 5 808 c.614A>G c.(613-615)tAt>tGt p.Y205C TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.3_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.2_Missense_Mutation_p.Y166C|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 205 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y205C(127)|p.E204*(27)|p.Y205S(26)|p.Y205F(16)|p.Y205D(14)|p.Y205H(8)|p.0?(8)|p.Y73C(5)|p.?(5)|p.Y112C(5)|p.Y205N(4)|p.Y205*(4)|p.E204fs*5(3)|p.E204fs*43(3)|p.E204fs*39(2)|p.E204_N210delEYLDDRN(2)|p.E204K(2)|p.E204G(2)|p.E204D(2)|p.E204E(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.E204fs*4(1)|p.Y73S(1)|p.V203_E204>V*(1)|p.Y112S(1)|p.Y205fs*43(1)|p.V203_E204>LV(1)|p.E204A(1)|p.E204V(1)|p.E204Q(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCATCCAAATACTCCACACG 0.542 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MYH2 4620 broad.mit.edu 37 17 10432765 10432765 + Missense_Mutation SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr17:10432765G>A uc010coi.3 - 24 3279 c.3151C>T c.(3151-3153)Cgc>Tgc p.R1051C AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1051C|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1051 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1051C(2)|p.R1051H(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AGGTCCATGCGAAGTTTCTTT 0.383 MUC16 94025 broad.mit.edu 37 19 9068025 9068025 + Missense_Mutation SNP T T C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr19:9068025T>C uc002mkp.3 - 2 19625 c.19421A>G c.(19420-19422)cAc>cGc p.H6474R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6476 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CATAGCTGAGTGGGTCCCTGC 0.488 LDLR 3949 broad.mit.edu 37 19 11224247 11224247 + Silent SNP T T C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr19:11224247T>C uc002mqk.4 + 9 1582 c.1395T>C c.(1393-1395)taT>taC p.Y465Y LDLR_uc010xlk.2_Silent_p.Y465Y|LDLR_uc010xll.2_Silent_p.Y424Y|LDLR_uc021upc.1_Silent_p.Y344Y|LDLR_uc010xln.2_Silent_p.Y338Y|LDLR_uc010xlo.2_Silent_p.Y297Y|LDLR_uc010xlm.2_Silent_p.Y318Y|LDLR_uc021upd.1_Silent_p.Y202Y NM_000527 NP_000518 P01130 LDLR_HUMAN Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA. 465 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) TCTCTTCCTATGACACCGTCA 0.622 PRPF31 26121 broad.mit.edu 37 19 54621969 54621969 + Missense_Mutation SNP T T C rs145505952 byFrequency TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr19:54621969T>C uc002qdh.2 + 2 590 c.194T>C c.(193-195)aTg>aCg p.M65T TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Missense_Mutation_p.M65T|PRPF31_uc021vbi.1_Missense_Mutation_p.M65T NM_015629 NP_056444 Q8WWY3 PRP31_HUMAN Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA. 65 assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3) 12 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GAGATTATGATGAAGATTGAG 0.502 RPL23AP32 56969 broad.mit.edu 37 2 54756737 54756737 + Silent SNP T T C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:54756737T>C uc010yot.1 + 0 379 c.255T>C c.(253-255)ttT>ttC p.F85F SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA. CCACTGAGTTTGCCATGAAGA 0.478 TGFA 7039 broad.mit.edu 37 2 70742029 70742029 + Missense_Mutation SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:70742029G>A uc002sgs.4 - 1 304 c.56C>T c.(55-57)gCg>gTg p.A19V TGFA_uc010fdq.3_Missense_Mutation_p.A25V|TGFA_uc010fdr.3_Missense_Mutation_p.A25V|TGFA_uc002sgt.4_Missense_Mutation_p.A19V|TGFA_uc002sgu.3_Missense_Mutation_p.A19V|TGFA_uc002sgv.3_Missense_Mutation_p.A19V|TGFA_uc002sgw.3_Missense_Mutation_p.A19V NM_003236 NP_003227 P01135 TGFA_HUMAN Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA. 19 activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis cell surface|extracellular space|integral to membrane|plasma membrane epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity p.A19V(2) haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1) 4 GGCCTGGCACGCAGCCAACAC 0.597 THNSL2 55258 broad.mit.edu 37 2 88472749 88472749 + Missense_Mutation SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:88472749G>A uc002ssy.4 + 0 1771 c.80G>A c.(79-81)gGg>gAg p.G27E THNSL2_uc002ssw.4_Missense_Mutation_p.G27E|THNSL2_uc002sta.4_Intron|THNSL2_uc010fhe.3_Intron|THNSL2_uc021vkq.1_Missense_Mutation_p.G27E|THNSL2_uc021vkr.1_Missense_Mutation_p.G27E NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA. 27 threonine biosynthetic process threonine synthase activity p.G27V(2) breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 GCACCTGACGGGGGCCTCTTT 0.607 WASH2P 375260 broad.mit.edu 37 2 114356239 114356239 + Silent SNP T T C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:114356239T>C uc002tkh.3 + 5 775 c.717T>C c.(715-717)cgT>cgC p.R239R WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA. CCTTTGCCCGTGTGTCAGACT 0.642 YSK4 80122 broad.mit.edu 37 2 135745654 135745654 + Missense_Mutation SNP T T G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:135745654T>G uc002tue.1 - 6 819 c.788A>C c.(787-789)gAg>gCg p.E263A YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E150A|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_5'UTR|YSK4_uc002tui.4_Missense_Mutation_p.E280A NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 263 ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) TCCCGGAGGCTCGTTTGATGG 0.443 ARHGAP15 55843 broad.mit.edu 37 2 143913090 143913090 + Missense_Mutation SNP G G A rs140767178 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:143913090G>A uc002tvm.4 + 1 182 c.31G>A c.(31-33)Gtg>Atg p.V11M ARHGAP15_uc010zbl.1_Missense_Mutation_p.V11M NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA. 11 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TGATACTTCCGTGGAAACACT 0.363 SCN7A 6332 broad.mit.edu 37 2 167262458 167262458 + Missense_Mutation SNP C C A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:167262458C>A uc002udu.2 - 24 4811 c.4681G>T c.(4681-4683)Gct>Tct p.A1561S SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 1561 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 AGGTCCAAAGCAATGAGCTGG 0.453 INPP5D 3635 broad.mit.edu 37 2 234106832 234106832 + Missense_Mutation SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:234106832G>A uc010zmo.2 + 23 2851 c.2698G>A c.(2698-2700)Gtg>Atg p.V900M INPP5D_uc010zmp.2_Missense_Mutation_p.V899M NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 929 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCCCCTGCACGTGAAGCAGAC 0.647 UGT1A1 54658 broad.mit.edu 37 2 234669017 234669017 + Silent SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:234669017G>A uc002vuw.3 + UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Silent_p.G28G|UGT1A1_uc002vvb.3_Silent_p.G28G NM_019078 NP_061951 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA. bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CCCATGCTGGGAAGATACTGT 0.617 PPP1R7 5510 broad.mit.edu 37 2 242105797 242105797 + Missense_Mutation SNP C C G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:242105797C>G uc002wat.1 + 7 769 c.760C>G c.(760-762)Ctg>Gtg p.L254V PPP1R7_uc010fzm.1_Missense_Mutation_p.L238V|PPP1R7_uc002was.3_Missense_Mutation_p.L254V|PPP1R7_uc002wau.1_Missense_Mutation_p.L211V NM_002712 NP_002703 Q15435 PP1R7_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA. 254 cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3) 23 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) CCTGGTGAACCTGCGGGAGCT 0.552 C20orf72 92667 broad.mit.edu 37 20 17950509 17950509 + Missense_Mutation SNP A A G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr20:17950509A>G uc002wqh.3 + 1 89 c.7A>G c.(7-9)Atg>Gtg p.M3V C20orf72_uc010gco.3_Non-coding_Transcript|C20orf72_uc010gcp.3_5'Flank|SNX5_uc002wqc.3_5'Flank|SNX5_uc002wqd.3_5'Flank|SNX5_uc002wqe.3_5'Flank|SNX5_uc010zrt.1_5'Flank|AK296947_uc021way.1_5'Flank NM_052865 NP_443097 Q9BQP7 CT072_HUMAN Homo sapiens chromosome 20 open reading frame 72 (C20orf72), mRNA. 3 breast(1)|large_intestine(2)|lung(2)|urinary_tract(2) 7 CTGAATGAAGATGAAGTTATT 0.408 WFDC8 90199 broad.mit.edu 37 20 44184401 44184401 + Silent SNP G G A rs150100809 byFrequency TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr20:44184401G>A uc002xow.3 - 3 463 c.384C>T c.(382-384)tgC>tgT p.C128C WFDC8_uc002xox.3_Silent_p.C128C NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA. 128 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) CATTCCCTTCGCAGCCCCTGT 0.468 MC3R 4159 broad.mit.edu 37 20 54824279 54824279 + Missense_Mutation SNP C C T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr20:54824279C>T uc002xxb.2 + 0 492 c.380C>T c.(379-381)tCc>tTc p.S127F NM_019888 NP_063941 P41968 MC3R_HUMAN Homo sapiens melanocortin 3 receptor (MC3R), mRNA. 164 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) ATCTGCATCTCCCTGGTGGCC 0.557 KRTAP24-1 643803 broad.mit.edu 37 21 31654689 31654689 + Missense_Mutation SNP C C T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr21:31654689C>T uc002ynv.3 - 0 588 c.562G>A c.(562-564)Gtc>Atc p.V188I NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA. 188 keratin filament structural molecule activity p.V188V(1) breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 AATGGTGAGACGTAGCTGGGT 0.418 PRDM15 63977 broad.mit.edu 37 21 43281674 43281674 + Missense_Mutation SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr21:43281674G>A uc002yzq.1 - 6 1000 c.889C>T c.(889-891)Ccg>Tcg p.P297S PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron NM_022115 NP_071398 P57071 PRD15_HUMAN Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA. 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GTGCGCACCGGCATGTCCTTC 0.532 COL6A2 1292 broad.mit.edu 37 21 47546138 47546138 + Silent SNP C C T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr21:47546138C>T uc002zia.1 + 25 2491 c.2409C>T c.(2407-2409)gaC>gaT p.D803D COL6A2_uc002zhz.1_Silent_p.D803D|COL6A2_uc002zhy.1_Silent_p.D803D|COL6A2_uc010gqe.2_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA. 803 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACATGGAGGACGTCCTCTGCC 0.647 RIMBP3 85376 broad.mit.edu 37 22 20458331 20458331 + Missense_Mutation SNP C C G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr22:20458331C>G uc002zsd.4 - 0 3456 c.2971G>C c.(2971-2973)Gtg>Ctg p.V991L RN7SK_uc021wlw.1_5'Flank NM_015672 NP_056487 Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) ATACGGAGCACCCCTTTGGTC 0.602 PISD 23761 broad.mit.edu 37 22 32017352 32017352 + Missense_Mutation SNP C C T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr22:32017352C>T uc003alm.4 - 4 723 c.665G>A c.(664-666)cGt>cAt p.R222H PISD_uc003alk.2_Missense_Mutation_p.R188H|PISD_uc011alr.1_Missense_Mutation_p.R188H NM_014338 NP_055153 Q9UG56 PISD_HUMAN Homo sapiens phosphatidylserine decarboxylase (PISD), mRNA. 222 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 Phosphatidylserine(DB00144) TGTGCACATACGCGGGCCCAG 0.627 OREG0003530 type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay CAND2 23066 broad.mit.edu 37 3 12856870 12856870 + Missense_Mutation SNP T T A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr3:12856870T>A uc003bxk.2 + 7 1286 c.1237T>A c.(1237-1239)Tgg>Agg p.W413R CAND2_uc003bxj.2_Missense_Mutation_p.W320R NM_001162499 NP_001155971 O75155 CAND2_HUMAN Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA. 413 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CCCGAAGGGATGGCTGGAGGC 0.607 LRIG1 26018 broad.mit.edu 37 3 66455660 66455660 + Silent SNP C C T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr3:66455660C>T uc003dmx.3 - 8 1136 c.1122G>A c.(1120-1122)acG>acA p.T374T LRIG1_uc011bfu.2_5'Flank|LRIG1_uc003dmw.3_Silent_p.T40T|LRIG1_uc010hnz.3_Silent_p.T114T|LRIG1_uc010hoa.3_Silent_p.T374T NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA. 374 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) AGGCGCCGCTCGTGTCCTCTA 0.612 GPR15 2838 broad.mit.edu 37 3 98251885 98251885 + Missense_Mutation SNP C C G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr3:98251885C>G uc011bgy.2 + 0 1008 c.1008C>G c.(1006-1008)caC>caG p.H336Q NM_005290 NP_005281 P49685 GPR15_HUMAN Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA. 336 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CAGATAGTCACCTCACTAAGG 0.483 PDLIM5 10611 broad.mit.edu 37 4 95575673 95575673 + Missense_Mutation SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr4:95575673G>A uc003hti.3 + 9 1497 c.1346G>A c.(1345-1347)tGc>tAc p.C449Y PDLIM5_uc011cdx.1_Missense_Mutation_p.C346Y|PDLIM5_uc003htj.3_Missense_Mutation_p.C124Y|PDLIM5_uc003htk.3_Missense_Mutation_p.C478Y|PDLIM5_uc011cdy.2_Missense_Mutation_p.C327Y|PDLIM5_uc003hth.3_Missense_Mutation_p.C340Y|PDLIM5_uc003htl.3_Missense_Mutation_p.C124Y NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA. 449 LIM zinc-binding 1. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) TGCGCTCACTGCAAAAATACA 0.448 ODZ3 55714 broad.mit.edu 37 4 183710311 183710311 + Silent SNP C C T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr4:183710311C>T uc003ivd.1 + 23 5445 c.5370C>T c.(5368-5370)gaC>gaT p.D1790D NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1790 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AGATCTATGACGACCACCGTA 0.448 SLC12A7 10723 broad.mit.edu 37 5 1085433 1085433 + Silent SNP C C T rs112522540 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr5:1085433C>T uc003jbu.3 - 6 897 c.831G>A c.(829-831)gcG>gcA p.A277A NM_006598 NP_006589 Q9Y666 S12A7_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA. 277 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GGAAGACCAGCGCCAGCTTGT 0.637 JMY 133746 broad.mit.edu 37 5 78533329 78533329 + Missense_Mutation SNP T T C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr5:78533329T>C uc003kfx.4 + 0 1405 c.856T>C c.(856-858)Tgt>Cgt p.C286R NM_152405 NP_689618 Q8N9B5 JMY_HUMAN Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA. 286 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) CGACACTCTGTGTTACCAGCT 0.632 EGR1 1958 broad.mit.edu 37 5 137801566 137801568 + In_Frame_Del DEL TGC TGC - TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr5:137801566_137801568delTGC uc003ldb.1 + 0 386_388 c.116_118delTGC c.(115-120)atgctg>atg p.L41del NM_001964 NP_001955 P18146 EGR1_HUMAN Homo sapiens early growth response 1 (EGR1), mRNA. 41 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GAGGAGATGATGCTGCTGAGCAA 0.670 MED7 9443 broad.mit.edu 37 5 156566183 156566183 + Missense_Mutation SNP A A G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr5:156566183A>G uc010jik.3 - 1 652 c.260T>C c.(259-261)aTt>aCt p.I87T MED7_uc003lwm.4_Missense_Mutation_p.I87T|MED7_uc021ygl.1_Missense_Mutation_p.I87T NM_001100816 NP_004261 O43513 MED7_HUMAN Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA. 87 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2) 7 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAAGAAATTAATAAGGATAGA 0.378 SQSTM1 8878 broad.mit.edu 37 5 179260112 179260114 + In_Frame_Del DEL GAG GAG - TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr5:179260112_179260114delGAG uc003mkw.4 + 5 930_932 c.835_837delGAG c.(835-837)gagdel p.E280del SQSTM1_uc011dgr.2_In_Frame_Del_p.E196del|SQSTM1_uc011dgs.2_In_Frame_Del_p.E196del|SQSTM1_uc003mkx.3_In_Frame_Del_p.E196del NM_003900 NP_003891 Q13501 SQSTM_HUMAN Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA. 280 Interaction with NTRK1 (By similarity).|Ser-rich. anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCCAGCACAGAGGAGAAGAGCA 0.596 HSP90AB1 3326 broad.mit.edu 37 6 44217828 44217828 + Missense_Mutation SNP G G C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr6:44217828G>C uc003oxa.1 + 4 669 c.585G>C c.(583-585)gaG>gaC p.E195D HSP90AB1_uc011dvr.1_Missense_Mutation_p.E185D|HSP90AB1_uc003oxb.1_Missense_Mutation_p.E195D|HSP90AB1_uc011dvs.1_Missense_Mutation_p.E15D|HSP90AB1_uc003oxc.1_5'UTR NM_007355 NP_031381 P08238 HS90B_HUMAN Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA. 195 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACCTAGAAGAGAGGCGGGTCA 0.428 GSTA4 2941 broad.mit.edu 37 6 52850376 52850376 + Missense_Mutation SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr6:52850376G>A uc003pbf.3 - 3 295 c.145C>T c.(145-147)Cac>Tac p.H49Y GSTA4_uc003pbd.3_5'UTR NM_001512 NP_001503 O15217 GSTA4_HUMAN Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA. 49 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity|protein homodimerization activity endometrium(1)|lung(3)|skin(2)|urinary_tract(1) 7 Lung NSC(77;0.103) Glutathione(DB00143) AACAGCAGGTGGTTACCTGAG 0.458 PHF3 23469 broad.mit.edu 37 6 64416078 64416078 + Missense_Mutation SNP A A T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr6:64416078A>T uc003pep.1 + 10 3552 c.3527A>T c.(3526-3528)cAg>cTg p.Q1176L PHF3_uc010kah.1_Missense_Mutation_p.Q990L|PHF3_uc003pen.2_Missense_Mutation_p.Q1088L|PHF3_uc011dxs.1_Missense_Mutation_p.Q445L NM_015153 NP_055968 Q92576 PHF3_HUMAN Homo sapiens PHD finger protein 3 (PHF3), mRNA. 1176 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GAGGAGAAACAGGAGTCTCCA 0.378 EZR 7430 broad.mit.edu 37 6 159210403 159210403 + Missense_Mutation SNP T T C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr6:159210403T>C uc003qrt.4 - 2 228 c.13_splice c.e2-1 p.I5_splice EZR_uc011efs.2_Splice_Site_p.I5_splice|EZR_uc003qru.4_Splice_Site_p.I5_splice NM_003379 NP_003370 P15311 EZRI_HUMAN Homo sapiens ezrin (EZR), transcript variant 1, mRNA. 5 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) CGGACATTGATCTGAAAAACA 0.428 T ROS1 NSCLC MLLT4 4301 broad.mit.edu 37 6 168343837 168343837 + Missense_Mutation SNP A A G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr6:168343837A>G uc021zik.1 + 22 3303 c.2984A>G c.(2983-2985)tAt>tGt p.Y995C MLLT4_uc003qwb.1_Missense_Mutation_p.Y1020C|MLLT4_uc003qwc.2_Missense_Mutation_p.Y1036C|MLLT4_uc021zij.1_Missense_Mutation_p.Y1020C|MLLT4_uc021zim.1_Missense_Mutation_p.Y582C|MLLT4_uc003qwg.1_Missense_Mutation_p.Y345C NM_001040000 NP_001035089 P55196 AFAD_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA. 1036 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CTAGGAATCTATGTGAAGTCG 0.373 T MLL AL EGFR 1956 broad.mit.edu 37 7 55249002 55249003 + In_Frame_Ins INS - - CAGCGTGGA TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr7:55249002_55249003insCAGCGTGGA uc003tqk.3 + 19 2546_2547 c.2300_2301insCAGCGTGGA c.(2299-2301)gcc>gcCAGCGTGGAc p.770_771insSVD EGFR_uc022adm.1_In_Frame_Ins_p.770_771insSVD|EGFR_uc010kzg.2_In_Frame_Ins_p.725_726insSVD|EGFR_uc022adn.1_In_Frame_Ins_p.725_726insSVD|EGFR_uc011kco.2_In_Frame_Ins_p.717_718insSVD|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.5_6insSVD NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 770 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V769_D770insASV(26)|p.D770_N771insSVD(24)|p.D770_N771insG(8)|p.D770>GY(4)|p.V769M(4)|p.A767V(3)|p.V769L(3)|p.V769_D770insGVV(3)|p.D770N(2)|p.N771_P772insN(2)|p.N771_P772insH(2)|p.V769_D770insMASVD(2)|p.S768_V769insVAS(2)|p.N771_P772>SVDNR(2)|p.N771>TH(1)|p.N771>GT(1)|p.V769_D770insCV(1)|p.D770_N771insVDSVDNP(1)|p.D770_N771insGF(1)|p.D770_N771insGD(1)|p.D770_N771>AGG(1)|p.D770_N771insGL(1)|p.D770fs*61(1)|p.D770_P772>ASVDNR(1)|p.D770_N771insD(1)|p.V769_D770insGSV(1)|p.D770_N771insN(1)|p.V769_D770insDNV(1)|p.S768_V769>IL(1)|p.D770_N771insAPW(1)|p.D770_N771insSVP(1)|p.D770_N771insSVQ(1)|p.D770>GF(1)|p.(768_770)insRCD(1)|p.N771_P772insRH(1)|p.(V769)ins?(1)|p.N771>SH(1)|p.D770_N771insMATP(1)|p.D770_N771insDG(1)|p.S768_V769insAWT(1)|p.N771>GY(1)|p.S752_V769del(1)|p.N771>YG(1)|p.V769_D770insGRV(1)|p.D770_N771insNPH(1)|p.V769_D770insGV(1)|p.N771>GF(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TACGTGATGGCCAGCGTGGACA 0.649 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) CYP3A7 1577 broad.mit.edu 37 7 99277452 99277452 + Missense_Mutation SNP T T C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr7:99277452T>C uc003urq.3 - 0 170 c.68A>G c.(67-69)tAt>tGt p.Y23C ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_5'UTR|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Missense_Mutation_p.Y23C NM_000777 NP_000768 P24462 CP3A7_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA. 23 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TACTCACAGATAGAGGAGCAC 0.488 DOCK5 80005 broad.mit.edu 37 8 25232155 25232155 + Silent SNP C C T rs138488512 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr8:25232155C>T uc003xeg.3 + 36 3938 c.3801C>T c.(3799-3801)caC>caT p.H1267H DOCK5_uc003xeh.1_Silent_p.H981H|DOCK5_uc003xek.3_Silent_p.H56H|DOCK5_uc003xei.3_Silent_p.H837H|DOCK5_uc003xej.3_Non-coding_Transcript NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA. 1267 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TTCTCTTGCACGCTGAGCTTC 0.463 TBC1D2 55357 broad.mit.edu 37 9 101017509 101017509 + Missense_Mutation SNP G G C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr9:101017509G>C uc011lvb.2 - 0 495 c.315C>G c.(313-315)gaC>gaG p.D105E TBC1D2_uc004ayq.3_Missense_Mutation_p.D105E|TBC1D2_uc004ayr.3_5'UTR NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA. 105 Interaction with CADH1.|PH. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CCTCCTCAGCGTCCGCCTTAC 0.537 PLCXD1 55344 broad.mit.edu 37 X 215977 215977 + Missense_Mutation SNP T T C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chrX:215977T>C uc004cpc.3 + 6 1259 c.947T>C c.(946-948)cTc>cCc p.L316P PLCXD1_uc011mgx.2_Non-coding_Transcript NM_018390 NP_060860 Q9NUJ7 PLCX1_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 1 (PLCXD1), transcript variant 1, mRNA. 316 intracellular signal transduction|lipid metabolic process phospholipase C activity p.L316L(1) endometrium(3)|large_intestine(1)|lung(7) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTCATCGCGCTCAATCAGAAG 0.602 WWC3 55841 broad.mit.edu 37 X 10096087 10096087 + Nonsense_Mutation SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chrX:10096087G>A uc004csx.4 + 15 2364 c.2166G>A c.(2164-2166)tgG>tgA p.W722* WWC3_uc010nds.3_Nonsense_Mutation_p.W386*|WWC3_uc010ndt.3_Non-coding_Transcript NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN Homo sapiens WWC family member 3 (WWC3), mRNA. 722 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 AGCTGCGCTGGCATTCCGTGC 0.562 PDHA1 5160 broad.mit.edu 37 X 19369427 19369427 + Missense_Mutation SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chrX:19369427G>A uc004czg.4 + 3 465 c.320G>A c.(319-321)gGc>gAc p.G107D PDHA1_uc004czh.4_Missense_Mutation_p.G145D|PDHA1_uc011mjc.2_Missense_Mutation_p.G114D|PDHA1_uc011mjd.2_Missense_Mutation_p.G107D NM_000284 NP_000275 P08559 ODPA_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 107 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) CTGGAGGCCGGCATCAACCCC 0.507 CCNB3 85417 broad.mit.edu 37 X 50051674 50051674 + Missense_Mutation SNP G G A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chrX:50051674G>A uc004dox.4 + 5 803 c.505G>A c.(505-507)Gaa>Aaa p.E169K CCNB3_uc004doy.3_Missense_Mutation_p.E169K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA. 169 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TATTGAGGATGAAACCCTTAT 0.433 TBX22 50945 broad.mit.edu 37 X 79281244 79281244 + Missense_Mutation SNP C C G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chrX:79281244C>G uc010nmg.1 + 4 735 c.601C>G c.(601-603)Ctc>Gtc p.L201V TBX22_uc004edi.1_Missense_Mutation_p.L81V|TBX22_uc004edj.1_Missense_Mutation_p.L201V NM_001109878 NP_001103349 Q9Y458 TBX22_HUMAN Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA. 201 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.L201I(2) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TCGCATGAAACTCACCAACAA 0.537 ATP11C 286410 broad.mit.edu 37 X 138897124 138897124 + Missense_Mutation SNP T T A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chrX:138897124T>A uc004faz.3 - 4 447 c.348A>T c.(346-348)agA>agT p.R116S ATP11C_uc004fba.3_Missense_Mutation_p.R116S NM_173694 NP_775965 Q8NB49 AT11C_HUMAN Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA. 116 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) CAGCTCTGTGTCTCAGACAAT 0.303