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 MOAP1 64112 broad.mit.edu 37 14 93650050 93650050 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr14:93650050C>T ENST00000556883.1 - 2 1022 c.538G>A c.(538-540)Gaa>Aaa p.E180K MOAP1_ENST00000298894.4_Missense_Mutation_p.E180K Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 180 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) cgtccaaattcttcttctcct 0.512000 49 47 0 0 0.003610 0 0 TENM2 57451 broad.mit.edu 37 5 167553852 167553852 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:167553852G>A ENST00000519204.1 + 11 2058 c.1940G>A c.(1939-1941)cGc>cAc p.R647H TENM2_ENST00000545108.1_Missense_Mutation_p.R768H|TENM2_ENST00000520394.1_Missense_Mutation_p.R536H|TENM2_ENST00000518659.1_Missense_Mutation_p.R768H|TENM2_ENST00000403607.2_Missense_Mutation_p.R601H|CTB-178M22.1_ENST00000517408.1_RNA teneurin transmembrane protein 2 TGTGACCAGCGCGTGTGCCAC 0.602000 14 7 0 0 0.003163 0 0 SPC24 147841 broad.mit.edu 37 19 11258787 11258787 + Silent SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:11258787G>T ENST00000592540.1 - 3 343 c.312C>A c.(310-312)ctC>ctA p.L104L NM_182513.2 NP_872319.1 Q8NBT2 SPC24_HUMAN SPC24, NDC80 kinetochore complex component 104 Interaction with the N-terminus of SPBC25. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1) 5 GCTCTCTGGTGAGCTGAGTAG 0.607000 7 18 2.0095e-06 2.32679e-06 0.001984 1 0 KRI1 65095 broad.mit.edu 37 19 10668297 10668297 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:10668297G>A ENST00000312962.6 - 16 1585 c.1566C>T c.(1564-1566)atC>atT p.I522I KRI1_ENST00000361821.5_Silent_p.I518I NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 522 NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GCAGGTCGTCGATGATGTCCT 0.617000 27 46 0 0 0.001786 0 0 CENPF 1063 broad.mit.edu 37 1 214826232 214826232 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:214826232C>T ENST00000366955.3 + 16 8390 c.8222C>T c.(8221-8223)tCa>tTa p.S2741L CENPF_ENST00000467765.1_3'UTR NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2837 Sufficient for centromere localization.|Sufficient for self-association. 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 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) TGTCTCAGTTCACAGAAGCTG 0.328000 40 39 0 0 0.006230 0 0 ZFHX3 463 broad.mit.edu 37 16 72821414 72821414 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:72821414C>T ENST00000268489.5 - 10 11433 c.10761G>A c.(10759-10761)tcG>tcA p.S3587S ZFHX3_ENST00000397992.5_Silent_p.S2673S NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3587 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CGGCAGACTGCGAGGTAGATG 0.617000 64 85 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179612753 179612753 + Missense_Mutation SNP C C A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:179612753C>A ENST00000360870.5 - 46 14596 c.14374G>T c.(14374-14376)Gca>Tca p.A4792S TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 901 Ig-like 28. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) GGAAATGCTGCCAACTCTGGT 0.458000 30 29 3.73988e-18 4.42748e-18 0.006320 1 0 STYK1 55359 broad.mit.edu 37 12 10772796 10772796 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:10772796C>T ENST00000075503.3 - 11 1736 c.1216G>A c.(1216-1218)Gct>Act p.A406T NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 406 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CCGGCCACAGCTGCATACAGT 0.483000 HNSCC(73;0.22) 123 130 0 0 0.003610 0 0 TIGD2 166815 broad.mit.edu 37 4 90034853 90034853 + Nonsense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:90034853C>G ENST00000317005.2 + 1 886 c.728C>G c.(727-729)tCa>tGa p.S243* NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 243 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) ACTGACCTTTCAAACCTTCCT 0.423000 30 32 0 0 0.008361 0 0 OR8J3 81168 broad.mit.edu 37 11 55905037 55905037 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr11:55905037G>C ENST00000301529.1 - 1 157 c.158C>G c.(157-159)tCt>tGt p.S53C NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) TTGAAGTCGAGAGTCAACACT 0.473000 94 96 0 0 0.003610 0 0 CATSPER2 117155 broad.mit.edu 37 15 43939559 43939559 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:43939559C>T ENST00000396879.1 - 4 364 c.252G>A c.(250-252)ttG>ttA p.L84L CATSPER2_ENST00000321596.5_Silent_p.L84L|CATSPER2_ENST00000354127.4_Silent_p.L84L|CATSPER2_ENST00000355438.2_Silent_p.L84L|CATSPER2_ENST00000464721.1_5'UTR|CATSPER2_ENST00000381761.1_Silent_p.L90L|STRC_ENST00000541030.1_Intron NM_001282309.1 NP_001269238.1 Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 84 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GAAGCCTGCTCAACAGCCTCT 0.498000 38 151 0 0 0.006230 0 0 TMEM132D 121256 broad.mit.edu 37 12 130185145 130185145 + Missense_Mutation SNP A A T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:130185145A>T ENST00000422113.2 - 2 504 c.178T>A c.(178-180)Ttc>Atc p.F60I NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 60 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTCAGGAAGAAGGAGACGTCC 0.552000 41 40 0 0 0.006999 0 0 ZNF93 81931 broad.mit.edu 37 19 20044762 20044762 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:20044762G>C ENST00000343769.5 + 4 1026 c.998G>C c.(997-999)aGa>aCa p.R333T AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 333 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R333I(1) endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 ACACATAAGAGAATTCATACT 0.378000 31 10 0 0 0.001786 0 0 HMCN1 83872 broad.mit.edu 37 1 186034488 186034488 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:186034488C>T ENST00000271588.4 + 49 7861 c.7632C>T c.(7630-7632)caC>caT p.H2544H HMCN1_ENST00000367492.2_Silent_p.H2544H NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2544 Ig-like C2-type 23. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGGTGCCACACACTGGAAGAT 0.458000 4 34 0 0 0.000248 0 0 PKMYT1 9088 broad.mit.edu 37 16 3025757 3025757 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:3025757G>A ENST00000431515.2 - 4 820 c.435C>T c.(433-435)ttC>ttT p.F145F PKMYT1_ENST00000574385.1_Silent_p.F136F|PKMYT1_ENST00000573944.1_Silent_p.F136F|PKMYT1_ENST00000440027.2_Silent_p.F145F|PKMYT1_ENST00000574730.1_Silent_p.F76F|PKMYT1_ENST00000262300.8_Silent_p.F145F Q99640 PMYT1_HUMAN protein kinase, membrane associated tyrosine/threonine 1 145 Protein kinase. G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 TGGGGCCCCGGAATGGTGACA 0.677000 33 24 0 0 0.002445 0 0 TLK2 11011 broad.mit.edu 37 17 60598163 60598163 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:60598163G>C ENST00000326270.9 + 3 379 c.111G>C c.(109-111)caG>caC p.Q37H TLK2_ENST00000346027.5_Missense_Mutation_p.Q37H|TLK2_ENST00000343388.7_Missense_Mutation_p.Q37H|TLK2_ENST00000542523.1_Missense_Mutation_p.Q37H|TLK2_ENST00000582809.1_5'UTR NM_001284333.1 NP_001271262.1 Q86UE8 TLK2_HUMAN tousled-like kinase 2 37 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 CTTCCAACCAGAGCTTGTGCA 0.388000 47 110 0 0 0.003610 0 0 PXDNL 137902 broad.mit.edu 37 8 52321351 52321351 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr8:52321351C>T ENST00000356297.4 - 17 2933 c.2833G>A c.(2833-2835)Gcg>Acg p.A945T PXDNL_ENST00000543296.1_Missense_Mutation_p.A945T NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 945 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.A945T(1)|p.A144T(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCCTGTCGCGCGCACTCGGTG 0.647000 12 19 0 0 0.000978 0 0 CSE1L 1434 broad.mit.edu 37 20 47707561 47707561 + Splice_Site SNP T T G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:47707561T>G ENST00000262982.2 + 21 2488 c.e21+2 CSE1L_ENST00000469700.1_Splice_Site|CSE1L_ENST00000542325.1_Splice_Site|CSE1L_ENST00000396192.3_Splice_Site NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TTATCAAGAGTAAGTAAAATC 0.313000 12 45 0 0 0.003330 0 0 TDP1 55775 broad.mit.edu 37 14 90455360 90455360 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr14:90455360G>C ENST00000335725.4 + 11 1493 c.1243G>C c.(1243-1245)Gag>Cag p.E415Q TDP1_ENST00000393454.2_Missense_Mutation_p.E415Q|TDP1_ENST00000393452.3_Missense_Mutation_p.E415Q|TDP1_ENST00000357382.3_Missense_Mutation_p.E176Q|TDP1_ENST00000555880.1_Missense_Mutation_p.E415Q NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 415 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) GTTATGTTCTGAGTTTAAAGA 0.493000 Repair of DNA-protein crosslinks 32 39 0 0 0.002445 0 0 MSRB2 22921 broad.mit.edu 37 10 23399191 23399191 + Silent SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:23399191G>T ENST00000376510.3 + 3 343 c.240G>T c.(238-240)ctG>ctT p.L80L NM_012228.3 NP_036360.3 Q9Y3D2 MSRB2_HUMAN methionine sulfoxide reductase B2 80 protein repair mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 9 L-Methionine(DB00134) GGATCTACCTGAATAACAAGG 0.428000 20 22 2.4624e-09 2.87643e-09 0.008871 1 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51397240 51397240 + Missense_Mutation SNP A A T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:51397240A>T ENST00000327536.5 - 1 233 c.134T>A c.(133-135)aTc>aAc p.I45N RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 45 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) AGATAAGGGGATGAGTCTTGT 0.532000 12 102 0 0 0.001882 0 0 GAD2 2572 broad.mit.edu 37 10 26559631 26559631 + Silent SNP C C A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:26559631C>A ENST00000376261.3 + 10 1541 c.1038C>A c.(1036-1038)ccC>ccA p.P346P GAD2_ENST00000259271.3_Silent_p.P346P NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 346 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) CATTTGACCCCCTCTTAGCTG 0.488000 80 69 2.65773e-34 3.20384e-34 0.003610 1 0 RGS12 6002 broad.mit.edu 37 4 3416499 3416499 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:3416499C>T ENST00000336727.3 + 6 3115 c.2211C>T c.(2209-2211)ttC>ttT p.F737F RGS12_ENST00000344733.5_Silent_p.F737F|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Silent_p.F737F|RGS12_ENST00000338806.4_Silent_p.F89F|RGS12_ENST00000538395.1_Silent_p.F79F|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Silent_p.F135F NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 737 RGS. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGAAAGAATTCAGTGAAGAAA 0.413000 48 169 0 0 0.003610 0 0 KIF13A 63971 broad.mit.edu 37 6 17777582 17777582 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:17777582C>T ENST00000378814.5 - 33 4056 c.4057G>A c.(4057-4059)Gtc>Atc p.V1353I KIF13A_ENST00000378843.2_Missense_Mutation_p.V1353I|KIF13A_ENST00000378816.5_Missense_Mutation_p.V1366I|KIF13A_ENST00000259711.6_Missense_Mutation_p.V1366I|KIF13A_ENST00000378826.2_Missense_Mutation_p.V1366I NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1366 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTGACTGTGACGGCCTGTAAA 0.448000 4 28 0 0 0.000248 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140798486 140798486 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:140798486G>C ENST00000398594.2 + 1 1060 c.1060G>C c.(1060-1062)Gat>Cat p.D354H PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCACTCTCTGATCAGATTAT 0.463000 26 26 0 0 0.008361 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51397222 51397222 + Missense_Mutation SNP A A G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:51397222A>G ENST00000327536.5 - 1 251 c.152T>C c.(151-153)cTt>cCt p.L51P RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 51 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) TCCCCTCTGAAGATGAAAAGA 0.542000 14 110 0 0 0.003954 0 0 CD34 947 broad.mit.edu 37 1 208061201 208061201 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:208061201G>A ENST00000310833.7 - 8 1361 c.1040C>T c.(1039-1041)cCt>cTt p.P347L CD34_ENST00000367036.3_Missense_Mutation_p.P189L|CD34_ENST00000537704.1_Missense_Mutation_p.P212L|CD34_ENST00000485761.1_Intron|CD34_ENST00000356522.4_3'UTR NM_001025109.1 NP_001020280.1 P28906 CD34_HUMAN CD34 molecule 347 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 CTGAGCCTCAGGGGAGGTCCC 0.557000 32 26 0 0 0.001786 0 0 SIGIRR 59307 broad.mit.edu 37 11 407866 407866 + Silent SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr11:407866G>C ENST00000431843.2 - 5 738 c.432C>G c.(430-432)ctC>ctG p.L144L SIGIRR_ENST00000531205.1_Silent_p.L144L|SIGIRR_ENST00000397632.3_Silent_p.L144L|SIGIRR_ENST00000332725.3_Silent_p.L144L|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Silent_p.L144L NM_001135054.1 NP_001128526.1 Q6IA17 SIGIR_HUMAN single immunoglobulin and toll-interleukin 1 receptor (TIR) domain 144 acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 13 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCAGCACGTTGAGACGGCACT 0.687000 55 3 0 0 0.003610 0 0 PDE3A 5139 broad.mit.edu 37 12 20774241 20774241 + Nonsense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:20774241G>A ENST00000359062.3 + 5 1476 c.1436G>A c.(1435-1437)tGg>tAg p.W479* PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 479 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CCTGATTCTTGGAATAATCCA 0.378000 13 19 0 0 0.001368 0 0 HCFC2 29915 broad.mit.edu 37 12 104476336 104476336 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:104476336C>T ENST00000229330.4 + 6 930 c.826C>T c.(826-828)Cat>Tat p.H276Y NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 276 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GACTTCACCTCATGATTGTGA 0.333000 21 38 0 0 0.002299 0 0 PCLO 27445 broad.mit.edu 37 7 82785410 82785410 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:82785410C>T ENST00000333891.9 - 2 884 c.547G>A c.(547-549)Gag>Aag p.E183K PCLO_ENST00000423517.2_Missense_Mutation_p.E183K NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGGGATGCCTCAGAGTCTGAT 0.418000 29 30 0 0 0.002096 0 0 RENBP 5973 broad.mit.edu 37 X 153205630 153205630 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chrX:153205630G>A ENST00000393700.3 - 9 1082 c.1002C>T c.(1000-1002)ctC>ctT p.L334L RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Silent_p.L320L NM_002910.5 NP_002901.2 P51606 RENBP_HUMAN renin binding protein 334 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) TGTAACCCATGAGGAAGGCAA 0.602000 46 1 0 0 0.003610 0 0 CETP 1071 broad.mit.edu 37 16 57005235 57005235 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:57005235C>G ENST00000200676.3 + 7 730 c.600C>G c.(598-600)atC>atG p.I200M CETP_ENST00000379780.2_Missense_Mutation_p.I200M|CETP_ENST00000566128.1_Missense_Mutation_p.I135M|CETP_ENST00000569082.1_3'UTR NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 200 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 TGCCCCAGATCTGCAAAGAGA 0.577000 116 137 0 0 0.003610 0 0 QPRT 23475 broad.mit.edu 37 16 29706228 29706228 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:29706228G>A ENST00000395384.4 + 2 418 c.257G>A c.(256-258)aGa>aAa p.R86K QPRT_ENST00000562473.1_Intron|QPRT_ENST00000219771.7_Intron NM_014298.3 NP_055113.2 Q15274 NADC_HUMAN quinolinate phosphoribosyltransferase 86 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity p.R86K(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) CCGGTGGCCAGAGTGGCCGAG 0.657000 40 37 0 0 0.002222 0 0 DDX60 55601 broad.mit.edu 37 4 169196559 169196559 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:169196559C>T ENST00000393743.3 - 16 2532 c.2241G>A c.(2239-2241)ttG>ttA p.L747L NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 747 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CATCTCGTATCAAATAATGGC 0.403000 30 26 0 0 0.002096 0 0 SPG11 80208 broad.mit.edu 37 15 44876629 44876629 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:44876629G>C ENST00000261866.7 - 30 5265 c.5249C>G c.(5248-5250)tCc>tGc p.S1750C SPG11_ENST00000427534.2_Missense_Mutation_p.S1750C|SPG11_ENST00000558319.1_Missense_Mutation_p.S1750C|SPG11_ENST00000535302.2_Missense_Mutation_p.S1750C NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1750 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TGAGAAAAAGGAAGAAGCTGC 0.463000 34 38 0 0 0.002445 0 0 FAT1 2195 broad.mit.edu 37 4 187518864 187518864 + Nonsense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:187518864G>A ENST00000441802.2 - 24 12549 c.12340C>T c.(12340-12342)Cag>Tag p.Q4114* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4114 EGF-like 4. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GAATCACACTGACAAACGGCG 0.428000 HNSCC(5;0.00058) 23 29 0 0 0.003954 0 0 PKMYT1 9088 broad.mit.edu 37 16 3026845 3026845 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:3026845G>A ENST00000431515.2 - 3 583 c.198C>T c.(196-198)ctC>ctT p.L66L PKMYT1_ENST00000574385.1_Silent_p.L57L|PKMYT1_ENST00000573944.1_Silent_p.L57L|PKMYT1_ENST00000440027.2_Silent_p.L66L|PKMYT1_ENST00000574730.1_Intron|PKMYT1_ENST00000262300.8_Silent_p.L66L Q99640 PMYT1_HUMAN protein kinase, membrane associated tyrosine/threonine 1 66 Pro-rich. G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GAGGAGGGAAGAGGCGGCTGA 0.687000 4 4 0 0 0.000248 0 0 CECR2 27443 broad.mit.edu 37 22 18031822 18031822 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr22:18031822G>C ENST00000400573.5 + 18 4325 c.4318G>C c.(4318-4320)Gat>Cat p.D1440H CECR2_ENST00000400585.2_Missense_Mutation_p.D1298H|CECR2_ENST00000262608.8_Missense_Mutation_p.D1441H Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) ACTTCCCCTGGATCAGGTAAG 0.498000 24 29 0 0 0.003954 0 0 RBPJL 11317 broad.mit.edu 37 20 43940948 43940948 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:43940948G>A ENST00000343694.3 + 6 604 c.532G>A c.(532-534)Ggc>Agc p.G178S RBPJL_ENST00000372743.1_Missense_Mutation_p.G178S|RBPJL_ENST00000372741.3_Missense_Mutation_p.G178S NM_001281448.1|NM_001281449.1|NM_014276.2 NP_001268377.1|NP_001268378.1|NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 178 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) gctgcgCGGGGGCCGGGAGCT 0.612000 16 24 0 0 0.004007 0 0 HNRNPU 3192 broad.mit.edu 37 1 245018742 245018742 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:245018742C>G ENST00000444376.2 - 12 2513 c.2279G>C c.(2278-2280)aGa>aCa p.R760T HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU_ENST00000283179.9_Missense_Mutation_p.R779T NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 779 Gly-rich. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) GTAGTTCCCTCTGTTGGGCAT 0.478000 99 163 0 0 0.003610 0 0 STK10 6793 broad.mit.edu 37 5 171471888 171471888 + Nonstop_Mutation SNP A A C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:171471888A>C ENST00000176763.5 - 19 3248 c.2905T>G c.(2905-2907)Taa>Gaa p.*969E NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 0 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGCGGTTGTTAAGAAGCATCC 0.592000 47 52 0 0 0.003610 0 0 CR2 1380 broad.mit.edu 37 1 207647168 207647168 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:207647168G>C ENST00000367057.3 + 12 2367 c.2178G>C c.(2176-2178)caG>caC p.Q726H CR2_ENST00000367059.3_Missense_Mutation_p.Q667H|CR2_ENST00000367058.3_Missense_Mutation_p.Q667H|CR2_ENST00000458541.2_Missense_Mutation_p.Q640H NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 788 Sushi 12. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 ATGTGAGACAGAGTCTTCAAG 0.418000 66 71 0 0 0.003610 0 0 MIB1 57534 broad.mit.edu 37 18 19345741 19345741 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr18:19345741C>G ENST00000261537.6 + 2 502 c.238C>G c.(238-240)Cat>Gat p.H80D MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 80 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) AGGCATCAAGCATGATGGAAC 0.363000 32 39 0 0 0.003271 0 0 PTP4A2 8073 broad.mit.edu 37 1 32384631 32384631 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:32384631C>G ENST00000344035.6 - 2 1029 c.36G>C c.(34-36)gaG>gaC p.E12D PTP4A2_ENST00000356536.3_Missense_Mutation_p.E12D|PTP4A2_ENST00000470404.1_Missense_Mutation_p.E12D|PTP4A2_ENST00000602725.1_Missense_Mutation_p.E12D|PTP4A2_ENST00000457805.2_Missense_Mutation_p.E12D|RP11-84A19.4_ENST00000602889.1_lincRNA NM_080391.3 NP_536316.1 Q12974 TP4A2_HUMAN protein tyrosine phosphatase type IVA, member 2 12 early endosome|plasma membrane prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) AACGCATGTTCTCATAGGAGA 0.413000 34 42 0 0 0.003271 0 0 CSH1 1442 broad.mit.edu 37 17 61972839 61972839 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:61972839C>T ENST00000329882.8 - 4 520 c.450G>A c.(448-450)ctG>ctA p.L150L CSH1_ENST00000453363.3_Intron|CSH1_ENST00000316193.8_Silent_p.L150L P01243 CSH_HUMAN chorionic somatomammotropin hormone 1 (placental lactogen) 150 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 TCACCCCCATCAGCGTTTGGA 0.562000 Russell-Silver syndrome 45 91 0 0 0.003610 0 0 SSBP3 23648 broad.mit.edu 37 1 54867580 54867580 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:54867580C>G ENST00000371320.3 - 4 640 c.230G>C c.(229-231)aGa>aCa p.R77T SSBP3_ENST00000371319.3_Missense_Mutation_p.R77T|SSBP3_ENST00000357475.4_Missense_Mutation_p.R77T|SSBP3_ENST00000417664.2_5'UTR NM_145716.2 NP_663768.1 Q9BWW4 SSBP3_HUMAN single stranded DNA binding protein 3 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus single-stranded DNA binding central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 11 ACAAGTGTCTCTCCTTTCAGG 0.368000 42 57 0 0 0.003610 0 0 DGCR8 54487 broad.mit.edu 37 22 20073687 20073687 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr22:20073687C>T ENST00000351989.3 + 2 630 c.201C>T c.(199-201)ttC>ttT p.F67F DGCR8_ENST00000383024.2_Silent_p.F67F|DGCR8_ENST00000407755.1_Silent_p.F67F NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 67 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) AGGACCCCTTCAACTTCTACG 0.597000 50 56 0 0 0.003610 0 0 PSIP1 11168 broad.mit.edu 37 9 15468842 15468842 + Splice_Site SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr9:15468842C>G ENST00000380733.4 - 14 1550 c.e14-1 PSIP1_ENST00000380738.4_Splice_Site O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) ATCGCCGTATCTGAGAAAACA 0.299000 20 3 0 0 0.008871 0 0 TBC1D3P5 440419 broad.mit.edu 37 17 25749173 25749173 + RNA SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:25749173G>C ENST00000586223.1 + 0 1074 NR_033892.1 ACAGCTAATTGATTGAGTGTA 0.502000 13 15 0 0 0.001855 0 0 EMC1 23065 broad.mit.edu 37 1 19549914 19549914 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:19549914G>A ENST00000477853.1 - 19 2394 c.2352C>T c.(2350-2352)atC>atT p.I784I EMC1_ENST00000375199.3_Silent_p.I783I|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.I762I NM_001271427.1|NM_001271428.1|NM_015047.2 NP_001258356.1|NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 p.I784I(1) CTGAATGCACGATATGGACAG 0.537000 86 163 0 0 0.003610 0 0 ANKFY1 51479 broad.mit.edu 37 17 4080443 4080443 + Nonsense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:4080443G>C ENST00000341657.4 - 19 2788 c.2753C>G c.(2752-2754)tCa>tGa p.S918* CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Nonsense_Mutation_p.S960*|ANKFY1_ENST00000574367.1_Nonsense_Mutation_p.S919* NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 918 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 AATAATTTCTGAGCCTGCTTG 0.448000 45 1 0 0 0.003610 0 0 CRTC2 200186 broad.mit.edu 37 1 153921728 153921728 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:153921728G>C ENST00000368633.1 - 12 1664 c.1537C>G c.(1537-1539)Cag>Gag p.Q513E CRTC2_ENST00000368630.3_Missense_Mutation_p.Q193E NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 513 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GAACAAGACTGAGAGGGCAGC 0.617000 45 45 0 0 0.002522 0 0 ZNF827 152485 broad.mit.edu 37 4 146686180 146686180 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:146686180C>G ENST00000508784.1 - 13 3417 c.3190G>C c.(3190-3192)Gag>Cag p.E1064Q ZNF827_ENST00000379448.4_Missense_Mutation_p.E1064Q|ZNF827_ENST00000513320.1_Missense_Mutation_p.E714Q Q17R98 ZN827_HUMAN zinc finger protein 827 1064 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TTCTTATGCTCCAGCAGCTGT 0.483000 3 162 0 0 0.004672 0 0 AGL 178 broad.mit.edu 37 1 100366410 100366410 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:100366410G>A ENST00000294724.4 + 26 4059 c.3581G>A c.(3580-3582)gGc>gAc p.G1194D AGL_ENST00000361302.3_Missense_Mutation_p.G1178D|AGL_ENST00000370163.3_Missense_Mutation_p.G1194D|AGL_ENST00000370165.3_Missense_Mutation_p.G1194D|AGL_ENST00000370161.2_Missense_Mutation_p.G1178D|AGL_ENST00000361915.3_Missense_Mutation_p.G1194D|AGL_ENST00000361522.4_Missense_Mutation_p.G1177D NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1194 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TTGCCTGCTGGCACACTGGTA 0.318000 4 144 0 0 0.000248 0 0 SCAPER 49855 broad.mit.edu 37 15 76763592 76763592 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:76763592C>G ENST00000538941.2 - 25 3240 c.2301G>C c.(2299-2301)aaG>aaC p.K767N SCAPER_ENST00000563290.1_Missense_Mutation_p.K1013N|SCAPER_ENST00000324767.7_Missense_Mutation_p.K1013N NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 1012 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 AGAAGGTAATCTTGTTACTAA 0.378000 27 40 0 0 0.007291 0 0 RTKN2 219790 broad.mit.edu 37 10 63978015 63978015 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:63978015C>G ENST00000373789.3 - 8 923 c.827G>C c.(826-828)cGa>cCa p.R276P RTKN2_ENST00000315289.2_Missense_Mutation_p.R57P|RTKN2_ENST00000395265.1_Missense_Mutation_p.R276P NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 276 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) GGCAACTAGTCGGCAGCACAT 0.368000 41 50 0 0 0.002852 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 161 0 0 0.000602 0 0 DNAJC11 55735 broad.mit.edu 37 1 6694739 6694739 + Nonsense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:6694739C>T ENST00000349363.6 - 8 845 c.804G>A c.(802-804)tgG>tgA p.W268* DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377577.5_3'UTR|THAP3_ENST00000377627.3_3'UTR Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 0 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) ATTCTGCATCCCAAGTGGGCA 0.647000 OREG0013046 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 8 0 0 0.004990 0 0 HSD17B3 3293 broad.mit.edu 37 9 98997817 98997817 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr9:98997817G>C ENST00000375263.3 - 11 905 c.858C>G c.(856-858)ttC>ttG p.F286L HSD17B3_ENST00000375262.2_Missense_Mutation_p.F236L|HSD17B3_ENST00000464104.1_5'UTR NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 286 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity p.F286F(1) breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) CACCGCTGTAGAAGGCCCAGG 0.537000 18 0 0 0 0.001882 0 0 RPS18 6222 broad.mit.edu 37 6 33243640 33243640 + Missense_Mutation SNP G G A rs3208874 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:33243640G>A ENST00000439602.2 + 3 279 c.169G>A c.(169-171)Gga>Aga p.G57R RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_5'UTR P62269 RS18_HUMAN ribosomal protein S18 57 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 9 CAAGAGGGCGGGAGAACTCAC 0.552000 4 152 0 0 0.000248 0 0 RASGRF2 5924 broad.mit.edu 37 5 80422929 80422929 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:80422929C>T ENST00000265080.4 + 17 2700 c.2633C>T c.(2632-2634)cCg>cTg p.P878L NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 878 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TCTGTTTCACCGGCTTCTGCT 0.448000 25 41 0 0 0.003954 0 0 PSD 5662 broad.mit.edu 37 10 104173719 104173719 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:104173719C>T ENST00000020673.5 - 5 1886 c.1360G>A c.(1360-1362)Gac>Aac p.D454N PSD_ENST00000406432.1_Missense_Mutation_p.D454N NM_001270966.1|NM_002779.4 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 454 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCTGGTGGGTCGGGCCGGGGT 0.662000 47 32 0 0 0.003610 0 0 TAB2 23118 broad.mit.edu 37 6 149700620 149700620 + Silent SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:149700620G>C ENST00000367456.1 + 4 2146 c.1569G>C c.(1567-1569)ctG>ctC p.L523L TAB2_ENST00000286332.5_Silent_p.L523L|TAB2_ENST00000538427.1_Silent_p.L523L|TAB2_ENST00000536230.1_Silent_p.L491L|TAB2_ENST00000392282.1_Silent_p.L523L Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 523 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 CACGGAAACTGAGTATGGGAT 0.413000 35 31 0 0 0.003271 0 0 TENC1 23371 broad.mit.edu 37 12 53454002 53454002 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:53454002G>A ENST00000314250.6 + 18 2867 c.2577G>A c.(2575-2577)ttG>ttA p.L859L TENC1_ENST00000314276.3_Silent_p.L869L|TENC1_ENST00000451358.1_Silent_p.L849L|TENC1_ENST00000379902.3_Silent_p.L735L|TENC1_ENST00000552570.1_Silent_p.L859L|TENC1_ENST00000549700.1_Silent_p.L794L|TENC1_ENST00000546602.1_Intron NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 859 Pro-rich. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 GGTACCCATTGCCTGGGCACC 0.637000 7 7 0 0 0.004482 0 0 RNF103 7844 broad.mit.edu 37 2 86832395 86832395 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:86832395G>A ENST00000237455.4 - 4 1597 c.629C>T c.(628-630)gCa>gTa p.A210V RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 210 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 CCGAGAAGCTGCATGAGCAGT 0.343000 82 75 0 0 0.003610 0 0 WASH2P 375260 broad.mit.edu 37 2 114355998 114355998 + RNA SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:114355998C>G ENST00000538033.2 + 0 2178 CCAAGGTGGGCACTTGATGTC 0.612000 4 24 0 0 0.001168 0 0 ADAM10 102 broad.mit.edu 37 15 58932978 58932978 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:58932978G>A ENST00000260408.3 - 8 1453 c.1010C>T c.(1009-1011)tCa>tTa p.S337L ADAM10_ENST00000396140.2_Missense_Mutation_p.S36L|ADAM10_ENST00000402627.1_Missense_Mutation_p.S36L|ADAM10_ENST00000561288.1_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 337 Peptidase M12B. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TAAACTACCTGAAGGTGCTCC 0.388000 12 16 0 0 0.001855 0 0 CSE1L 1434 broad.mit.edu 37 20 47707519 47707519 + Missense_Mutation SNP C C A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:47707519C>A ENST00000262982.2 + 21 2448 c.2325C>A c.(2323-2325)ttC>ttA p.F775L CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000542325.1_Missense_Mutation_p.F558L|CSE1L_ENST00000396192.3_Missense_Mutation_p.F719L NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 775 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TTCTGCTATTCCAGAGACTTC 0.308000 16 62 1.61788e-16 1.90679e-16 0.002445 1 0 HS3ST1 9957 broad.mit.edu 37 4 11401132 11401132 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:11401132C>T ENST00000002596.5 - 2 1672 c.498G>A c.(496-498)caG>caA p.Q166Q NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 166 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GCTTGTGCTTCTGCATGTGGT 0.587000 43 53 0 0 0.003610 0 0 ALOX12B 242 broad.mit.edu 37 17 7976526 7976526 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:7976526C>T ENST00000319144.4 - 14 2126 c.1866G>A c.(1864-1866)gtG>gtA p.V622V ALOX12B_ENST00000577351.1_5'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 622 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 ACGTGGTCTTCACATCCGGCA 0.622000 Multiple Myeloma(8;0.094) 4 119 0 0 0.000248 0 0 MEP1A 4224 broad.mit.edu 37 6 46806751 46806751 + Nonsense_Mutation SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:46806751G>T ENST00000230588.4 + 14 2128 c.2119G>T c.(2119-2121)Gag>Tag p.E707* NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 707 EGF-like. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CTACACGGGGGAGCGCTGTCA 0.587000 82 87 2.61895e-37 3.17157e-37 0.003610 1 0 CERKL 375298 broad.mit.edu 37 2 182413568 182413568 + Silent SNP G G A rs139270710 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:182413568G>A ENST00000410087.3 - 7 1012 c.912C>T c.(910-912)gtC>gtT p.V304V CERKL_ENST00000339098.5_Silent_p.V330V|CERKL_ENST00000374970.2_Silent_p.V235V|CERKL_ENST00000374969.2_Silent_p.V191V|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Silent_p.V286V NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 330 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) TGCAGACGTCGACCAGCTGTA 0.428000 22 34 0 0 0.003954 0 0 FLVCR2 55640 broad.mit.edu 37 14 76045321 76045321 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr14:76045321G>A ENST00000238667.4 + 1 362 c.6G>A c.(4-6)gtG>gtA p.V2V AC007182.6_ENST00000455232.1_RNA NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 2 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) TGGCGATGGTGAATGAAGGTC 0.597000 OREG0022816 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 43 0 0 0.001786 0 0 GALNT7 51809 broad.mit.edu 37 4 174169341 174169341 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:174169341C>G ENST00000265000.4 + 2 420 c.337C>G c.(337-339)Ctc>Gtc p.L113V GALNT7_ENST00000512285.1_Missense_Mutation_p.L113V NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 113 protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) GAGGCAGTATCTCACATTTAA 0.463000 32 40 0 0 0.001786 0 0 STOML3 161003 broad.mit.edu 37 13 39544479 39544479 + Missense_Mutation SNP T T A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr13:39544479T>A ENST00000379631.4 - 5 703 c.359A>T c.(358-360)tAt>tTt p.Y120F STOML3_ENST00000423210.1_Missense_Mutation_p.Y111F NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 120 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) GATTCTGTAATAGACAACTCC 0.433000 69 86 0 0 0.003610 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87446453 87446453 + Nonsense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:87446453G>C ENST00000268616.4 - 12 1680 c.1463C>G c.(1462-1464)tCa>tGa p.S488* NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 488 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GTGGTGGCCTGATGGATTGGA 0.612000 33 40 0 0 0.001786 0 0 HELZ 9931 broad.mit.edu 37 17 65175038 65175038 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:65175038G>A ENST00000358691.5 - 13 1333 c.1167C>T c.(1165-1167)ctC>ctT p.L389L HELZ_ENST00000580168.1_Silent_p.L389L NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TCAGGTATTCGAGATCTAAAT 0.279000 37 62 0 0 0.004289 0 0 SULT2B1 6820 broad.mit.edu 37 19 49090664 49090664 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:49090664C>T ENST00000323090.4 + 2 723 c.348C>T c.(346-348)ttC>ttT p.F116F SULT2B1_ENST00000201586.2_Silent_p.F131F NM_004605.2 NP_004596.2 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 131 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) TCCAGATCTTCACCAAGGCCT 0.622000 47 66 0 0 0.003610 0 0 CRTAC1 55118 broad.mit.edu 37 10 99664461 99664461 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:99664461G>C ENST00000370597.3 - 7 1316 c.961C>G c.(961-963)Ctg>Gtg p.L321V CRTAC1_ENST00000298819.4_Missense_Mutation_p.L321V|CRTAC1_ENST00000370591.2_Missense_Mutation_p.L321V NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 321 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CTCATTTGCAGATAGAGGCGG 0.592000 52 78 0 0 0.003610 0 0 ENPP3 5169 broad.mit.edu 37 6 131971180 131971180 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:131971180G>A ENST00000414305.1 + 4 496 c.168G>A c.(166-168)aaG>aaA p.K56K ENPP3_ENST00000358229.5_Silent_p.K56K|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000543135.1_Silent_p.K22K|ENPP3_ENST00000427148.2_Silent_p.K22K|ENPP3_ENST00000357639.3_Silent_p.K56K O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 56 SMB 1. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) GCTGCAGGAAGAAGTGCTTTG 0.463000 41 55 0 0 0.006230 0 0 DEPDC5 9681 broad.mit.edu 37 22 32160960 32160960 + Splice_Site SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr22:32160960G>A ENST00000400246.1 + 5 335 c.e5-1 DEPDC5_ENST00000266091.3_Splice_Site|DEPDC5_ENST00000400249.2_Splice_Site|DEPDC5_ENST00000382111.2_Splice_Site|DEPDC5_ENST00000382112.3_Splice_Site|DEPDC5_ENST00000536766.1_Splice_Site|DEPDC5_ENST00000400248.2_Splice_Site|DEPDC5_ENST00000382105.2_Splice_Site|DEPDC5_ENST00000535622.1_Splice_Site|DEPDC5_ENST00000400242.3_Splice_Site O75140 DEPD5_HUMAN DEP domain containing 5 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TTCTGTTTTAGAAACTATCAG 0.363000 6 88 0 0 0.001984 0 0 ASXL1 171023 broad.mit.edu 37 20 31017811 31017811 + Nonsense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:31017811C>T ENST00000375687.4 + 8 1097 c.673C>T c.(673-675)Cag>Tag p.Q225* ASXL1_ENST00000306058.5_Nonsense_Mutation_p.Q220* NM_015338.5 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 225 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CGAGGTCACCCAGGACCCTGC 0.687000 """F, N, Mis""" """MDS, CMML""" 22 17 0 0 0.003330 0 0 EXT1 2131 broad.mit.edu 37 8 118842578 118842578 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr8:118842578G>A ENST00000378204.2 - 4 1981 c.1175C>T c.(1174-1176)aCa>aTa p.T392I NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 392 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) AGACCTGATTGTAGAAGGAAT 0.353000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 16 24 0 0 0.004007 0 0 KCNJ5 3762 broad.mit.edu 37 11 128782060 128782060 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr11:128782060G>C ENST00000529694.1 + 2 1268 c.892G>C c.(892-894)Gag>Cag p.E298Q KCNJ5_ENST00000338350.4_Missense_Mutation_p.E298Q|KCNJ5_ENST00000533599.1_Missense_Mutation_p.E298Q NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 298 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) GCATCAGGAAGAGTTTGAAGT 0.527000 49 4 0 0 0.003610 0 0 ZNF30 90075 broad.mit.edu 37 19 35434903 35434903 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:35434903G>C ENST00000439785.1 + 5 1480 c.1036G>C c.(1036-1038)Gaa>Caa p.E346Q ZNF30_ENST00000601142.1_Missense_Mutation_p.E345Q|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.E264Q|ZNF30_ENST00000303586.7_Missense_Mutation_p.E346Q NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) GAAACCTTTTGAATGTAAGGA 0.448000 54 66 0 0 0.003610 0 0 BPTF 2186 broad.mit.edu 37 17 65882426 65882426 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:65882426G>C ENST00000321892.4 + 6 2297 c.2236G>C c.(2236-2238)Gag>Cag p.E746Q BPTF_ENST00000306378.6_Intron|BPTF_ENST00000424123.3_Missense_Mutation_p.E607Q|BPTF_ENST00000335221.5_Missense_Mutation_p.E746Q Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 746 Interaction with KEAP1. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TATTCAGGAAGAGATAGGTAA 0.353000 15 39 0 0 0.002450 0 0 ACIN1 22985 broad.mit.edu 37 14 23533388 23533388 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr14:23533388C>G ENST00000262710.1 - 12 3022 c.2695G>C c.(2695-2697)Gag>Cag p.E899Q ACIN1_ENST00000397341.3_Missense_Mutation_p.E141Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.E841Q|ACIN1_ENST00000557515.1_Missense_Mutation_p.E140Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.E859Q|ACIN1_ENST00000555053.1_Missense_Mutation_p.E886Q|ACIN1_ENST00000357481.2_Missense_Mutation_p.E141Q|ACIN1_ENST00000338631.6_Missense_Mutation_p.E172Q NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 899 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GTCTCATCCTCAGAGATGCGA 0.567000 44 64 0 0 0.002222 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32928484 32928484 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:32928484G>A ENST00000361627.3 + 12 2232 c.1510G>A c.(1510-1512)Gaa>Aaa p.E504K ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.E315K|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.E315K NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 504 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TAAGTCTGAGGAAACCTTACT 0.368000 30 26 0 0 0.002096 0 0 NIN 51199 broad.mit.edu 37 14 51259486 51259486 + Nonsense_Mutation SNP C C A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr14:51259486C>A ENST00000245441.5 - 5 569 c.379G>T c.(379-381)Gag>Tag p.E127* NIN_ENST00000382043.4_Nonsense_Mutation_p.E127*|NIN_ENST00000324330.9_Nonsense_Mutation_p.E127*|NIN_ENST00000453196.1_Nonsense_Mutation_p.E127*|NIN_ENST00000530997.2_Nonsense_Mutation_p.E127*|NIN_ENST00000486200.1_5'UTR|NIN_ENST00000382041.3_Nonsense_Mutation_p.E127*|NIN_ENST00000389868.3_Nonsense_Mutation_p.E127* NM_020921.3 NP_065972 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 127 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TCCAGTGGCTCAATCACCGTC 0.547000 T PDGFRB MPD 35 50 4.62619e-21 5.50141e-21 0.004289 1 0 KIF1A 547 broad.mit.edu 37 2 241726723 241726723 + Missense_Mutation SNP T T C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:241726723T>C ENST00000498729.2 - 5 620 c.374A>G c.(373-375)gAc>gGc p.D125G KIF1A_ENST00000320389.7_Missense_Mutation_p.D125G NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 125 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) AGAGAAGAGGTCCTCGCAGAG 0.657000 31 43 0 0 0.002445 0 0 ITGAE 3682 broad.mit.edu 37 17 3649140 3649140 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:3649140C>G ENST00000263087.4 - 18 2335 c.2237G>C c.(2236-2238)aGa>aCa p.R746T NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 746 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CAGACAGCTTCTTACGTCTGA 0.587000 49 6 0 0 0.003610 0 0 SHROOM3 57619 broad.mit.edu 37 4 77675497 77675497 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:77675497G>C ENST00000296043.6 + 7 4814 c.3861G>C c.(3859-3861)gaG>gaC p.E1287D NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1287 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GCCAAGAAGAGATGCTGCCGC 0.547000 81 113 0 0 0.003610 0 0 CSE1L 1434 broad.mit.edu 37 20 47707558 47707558 + Splice_Site SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:47707558G>A ENST00000262982.2 + 21 2487 c.2364G>A c.(2362-2364)aaG>aaA p.K788K CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000542325.1_Splice_Site_p.K571K|CSE1L_ENST00000396192.3_Splice_Site_p.K732K NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 788 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) AGTTTATCAAGAGTAAGTAAA 0.308000 12 45 0 0 0.003954 0 0 FAM189A2 9413 broad.mit.edu 37 9 71990748 71990748 + Nonsense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr9:71990748C>T ENST00000257515.8 + 4 640 c.220C>T c.(220-222)Cag>Tag p.Q74* FAM189A2_ENST00000455972.1_Nonsense_Mutation_p.Q74*|FAM189A2_ENST00000303068.7_5'UTR NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 74 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CTTTCCGGTTCAGCCCTGTAG 0.463000 57 4 0 0 0.003610 0 0 CCDC27 148870 broad.mit.edu 37 1 3669321 3669321 + Silent SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:3669321C>G ENST00000294600.2 + 1 360 c.276C>G c.(274-276)ctC>ctG p.L92L NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 92 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CACGCACGCTCAGCAAGTCGG 0.637000 31 23 0 0 0.002836 0 0 HERC1 8925 broad.mit.edu 37 15 63986695 63986695 + Nonsense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:63986695G>A ENST00000443617.2 - 29 5383 c.5296C>T c.(5296-5298)Caa>Taa p.Q1766* RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1766 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TCTACTGGTTGATAATGAACA 0.423000 32 31 0 0 0.002836 0 0 C8orf76 84933 broad.mit.edu 37 8 124253503 124253503 + Silent SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr8:124253503G>T ENST00000276704.4 - 1 135 c.84C>A c.(82-84)ccC>ccA p.P28P C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Intron NM_032847.2 NP_116236.1 Q96K31 CH076_HUMAN chromosome 8 open reading frame 76 28 binding NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4) 17 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) AGTAGGACGCGGGCGGTCCTG 0.736000 10 9 7.48243e-07 8.70203e-07 0.006214 1 0 BSG 682 broad.mit.edu 37 19 580761 580761 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:580761G>C ENST00000333511.3 + 5 841 c.771G>C c.(769-771)aaG>aaC p.K257N BSG_ENST00000346916.4_Missense_Mutation_p.K77N|BSG_ENST00000353555.4_Missense_Mutation_p.K141N|BSG_ENST00000545507.2_Missense_Mutation_p.K48N NM_001728.3 NP_001719.2 P35613 BASI_HUMAN basigin 257 Ig-like V-type. blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGTACAAGATCACTGACT 0.612000 19 38 0 0 0.007413 0 0 FAT1 2195 broad.mit.edu 37 4 187630570 187630570 + Nonsense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:187630570G>A ENST00000441802.2 - 2 621 c.412C>T c.(412-414)Cag>Tag p.Q138* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 138 Cadherin 1. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCCAGCACCTGCACCCTGACC 0.418000 HNSCC(5;0.00058) 103 127 0 0 0.003610 0 0 DPEP1 1800 broad.mit.edu 37 16 89703951 89703951 + Nonsense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:89703951C>T ENST00000393092.3 + 8 1135 c.844C>T c.(844-846)Caa>Taa p.Q282* DPEP1_ENST00000261615.4_Nonsense_Mutation_p.Q282*|DPEP1_ENST00000421184.1_Nonsense_Mutation_p.Q282* NM_004413.3 NP_004404.1 P16444 DPEP1_HUMAN dipeptidase 1 (renal) 282 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) CAACCTGTCCCAAGTGGCCGG 0.577000 77 65 0 0 0.003610 0 0 SPECC1L 23384 broad.mit.edu 37 22 24717883 24717883 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr22:24717883C>T ENST00000314328.9 + 5 1220 c.935C>T c.(934-936)tCt>tTt p.S312F SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.S312F|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S312F|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S312F|SPECC1L_ENST00000416735.1_Intron NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 312 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 ACTCTGACTTCTTCAGTGGAA 0.478000 45 56 0 0 0.003610 0 0 IMPACT 55364 broad.mit.edu 37 18 22025392 22025392 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr18:22025392G>C ENST00000284202.4 + 8 771 c.630G>C c.(628-630)aaG>aaC p.K210N NM_018439.3 NP_060909 Q9P2X3 IMPCT_HUMAN impact RWD domain protein 210 endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) ATGAGAATAAGAAAATAGCTA 0.308000 30 47 0 0 0.002836 0 0 SLC1A1 6505 broad.mit.edu 37 9 4585317 4585317 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr9:4585317G>A ENST00000262352.3 + 12 1570 c.1334G>A c.(1333-1335)cGg>cAg p.R445Q NM_004170.5 NP_004161.4 P43005 EAA3_HUMAN solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 445 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1) 15 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) CCCAGGGACCGGTTCAGGACC 0.507000 30 59 0 0 0.002096 0 0 PSMC2 5701 broad.mit.edu 37 7 103003152 103003152 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:103003152C>G ENST00000435765.1 + 7 853 c.442C>G c.(442-444)Caa>Gaa p.Q148E PSMC2_ENST00000292644.3_Missense_Mutation_p.Q148E|PSMC2_ENST00000544811.1_Missense_Mutation_p.Q11E|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 148 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 AAATAAATATCAAATTCACAT 0.333000 52 4 0 0 0.003610 0 0 SLC36A4 120103 broad.mit.edu 37 11 92916047 92916047 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr11:92916047C>G ENST00000326402.4 - 4 414 c.284G>C c.(283-285)aGc>aCc p.S95T SLC36A4_ENST00000529184.1_5'UTR NM_152313.2 NP_689526.2 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid symporter), member 4 95 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AAACACAAGGCTGATTGGTCC 0.328000 51 57 0 0 0.003610 0 0 STC1 6781 broad.mit.edu 37 8 23709043 23709043 + Splice_Site SNP C C A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr8:23709043C>A ENST00000290271.2 - 3 546 c.263G>T c.(262-264)gGa>gTa p.G88V STC1_ENST00000524323.1_Splice_Site_p.G19V NM_003155.2 NP_003146.1 P52823 STC1_HUMAN stanniocalcin 1 88 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GAATGCTTTTCCCTGCCATGG 0.507000 12 21 4.36969e-10 5.1271e-10 0.001855 1 0 HOXA2 3199 broad.mit.edu 37 7 27140803 27140803 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:27140803C>T ENST00000222718.5 - 2 983 c.673G>A c.(673-675)Gag>Aag p.E225K NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 225 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 TCCTCGTCCTCCTCTACTTTC 0.517000 47 44 0 0 0.003610 0 0 ASB5 140458 broad.mit.edu 37 4 177143510 177143510 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:177143510C>G ENST00000296525.3 - 3 451 c.338G>C c.(337-339)gGa>gCa p.G113A ASB5_ENST00000512254.1_Missense_Mutation_p.G60A|ASB5_ENST00000511879.1_5'UTR NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 113 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) CACGTGATCTCCAAGGCAGGC 0.423000 30 31 0 0 0.001786 0 0 KRI1 65095 broad.mit.edu 37 19 10668240 10668240 + Silent SNP G G A rs144674130 by1000genomes TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:10668240G>A ENST00000312962.6 - 16 1642 c.1623C>T c.(1621-1623)ctC>ctT p.L541L KRI1_ENST00000361821.5_Silent_p.L537L NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 541 NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CCTCAGTGCTGAGGCCAAAGT 0.602000 23 25 0 0 0.002299 0 0 MTTP 4547 broad.mit.edu 37 4 100510816 100510816 + Nonsense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:100510816C>G ENST00000457717.1 + 5 666 c.410C>G c.(409-411)tCa>tGa p.S137* MTTP_ENST00000265517.5_Nonsense_Mutation_p.S137*|MTTP_ENST00000511045.1_Nonsense_Mutation_p.S164* NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 137 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GAGTTCTACTCATATCAAAAT 0.418000 16 18 0 0 0.007413 0 0 MBOAT7 79143 broad.mit.edu 37 19 54678031 54678031 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:54678031C>T ENST00000245615.1 - 8 1606 c.1126G>A c.(1126-1128)Gag>Aag p.E376K MBOAT7_ENST00000338624.6_Missense_Mutation_p.E303K|MBOAT7_ENST00000431666.2_Missense_Mutation_p.E303K NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 376 phospholipid biosynthetic process integral to membrane acyltransferase activity 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) AGCCGGCCCTCGGCAGCCAGG 0.687000 62 50 0 0 0.003610 0 0 MIB1 57534 broad.mit.edu 37 18 19345737 19345737 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr18:19345737C>T ENST00000261537.6 + 2 498 c.234C>T c.(232-234)atC>atT p.I78I MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 78 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) TAATAGGCATCAAGCATGATG 0.363000 29 38 0 0 0.001786 0 0 SPECC1L 23384 broad.mit.edu 37 22 24718351 24718351 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr22:24718351C>T ENST00000314328.9 + 5 1688 c.1403C>T c.(1402-1404)tCt>tTt p.S468F SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.S468F|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S468F|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S468F|SPECC1L_ENST00000416735.1_Intron NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 468 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 TACTTCCGCTCTCTTCTAGAT 0.408000 65 70 0 0 0.003610 0 0 AFF3 3899 broad.mit.edu 37 2 100199373 100199373 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:100199373C>T ENST00000409236.2 - 15 2792 c.2680G>A c.(2680-2682)Gag>Aag p.E894K AFF3_ENST00000317233.4_Missense_Mutation_p.E894K|AFF3_ENST00000409579.1_Missense_Mutation_p.E919K|AFF3_ENST00000356421.2_Missense_Mutation_p.E919K P51826 AFF3_HUMAN AF4/FMR2 family, member 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.E919K(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 GTTAAGTCCTCGCTGGTGTAT 0.463000 47 44 0 0 0.003214 0 0 SLC24A3 57419 broad.mit.edu 37 20 19701741 19701741 + Missense_Mutation SNP A A C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:19701741A>C ENST00000328041.6 + 17 2089 c.1892A>C c.(1891-1893)aAc>aCc p.N631T NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 631 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ACTGAGTTCAACGTGTTCACC 0.582000 67 72 0 0 0.003610 0 0 RAB7A 7879 broad.mit.edu 37 3 128525358 128525358 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr3:128525358C>T ENST00000265062.3 + 4 570 c.324C>T c.(322-324)atC>atT p.I108I RAB7A_ENST00000482525.1_Intron|RAB7A_ENST00000485280.1_Intron NM_004637.5 NP_004628.4 P51149 RAB7A_HUMAN RAB7A, member RAS oncogene family 108 I -> V (in Ref. 2; AAA86640). endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(114;0.231) AGTTTCTCATCCAGGCCAGTC 0.458000 37 42 0 0 0.005524 0 0 ANKRD39 51239 broad.mit.edu 37 2 97514175 97514175 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:97514175C>T ENST00000393537.4 - 4 522 c.415G>A c.(415-417)Gag>Aag p.E139K NM_016466.5 NP_057550.3 Q53RE8 ANR39_HUMAN ankyrin repeat domain 39 139 NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 6 TGACCCCTCTCAGCAGCCTGT 0.582000 45 39 0 0 0.003610 0 0 IGSF10 285313 broad.mit.edu 37 3 151166508 151166508 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr3:151166508C>G ENST00000282466.3 - 4 1260 c.1261G>C c.(1261-1263)Gat>Cat p.D421H NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 421 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCTCTGAGATCTGCCTCTATG 0.438000 37 35 0 0 0.004289 0 0 EI24 9538 broad.mit.edu 37 11 125448904 125448904 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr11:125448904C>T ENST00000278903.6 + 7 743 c.501C>T c.(499-501)gtC>gtT p.V167V EI24_ENST00000343678.4_Silent_p.V167V|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA NM_004879.3 NP_004870.3 O14681 EI24_HUMAN etoposide induced 2.4 167 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) TCCCTAGTGTCAGCAAAATAA 0.443000 5 1 0 0 0.003080 0 0 MTR 4548 broad.mit.edu 37 1 237060354 237060354 + Nonsense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:237060354C>G ENST00000366577.5 + 32 4041 c.3647C>G c.(3646-3648)tCa>tGa p.S1216* MTR_ENST00000535889.1_Nonsense_Mutation_p.S1165*|MTR_ENST00000470570.1_3'UTR NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 1216 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) TCAGCAGTCTCAGGCCTCTAC 0.453000 103 115 0 0 0.003610 0 0 FAM63B 54629 broad.mit.edu 37 15 59139599 59139599 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:59139599C>T ENST00000559228.1 + 7 1554 c.1472C>T c.(1471-1473)tCa>tTa p.S491L FAM63B_ENST00000450403.2_Missense_Mutation_p.S491L Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 491 central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 TTCTGTGACTCAGAATTTCAT 0.393000 37 30 0 0 0.003271 0 0 RBM26 64062 broad.mit.edu 37 13 79916956 79916956 + Nonsense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr13:79916956G>C ENST00000438737.2 - 17 2710 c.2270C>G c.(2269-2271)tCa>tGa p.S757* RBM26_ENST00000438724.1_Nonsense_Mutation_p.S733*|RBM26_ENST00000267229.7_Nonsense_Mutation_p.S730* Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 757 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) CTCCAGTTTTGAAATTAACAT 0.244000 19 42 0 0 0.002780 0 0 IL2RG 3561 broad.mit.edu 37 X 70327696 70327696 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chrX:70327696C>G ENST00000374202.2 - 8 1091 c.1000G>C c.(1000-1002)Gag>Cag p.E334Q IL2RG_ENST00000456850.2_Missense_Mutation_p.E144Q|IL2RG_ENST00000374188.3_Missense_Mutation_p.E63Q NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 334 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) GGGGGAATCTCACTGACGAGG 0.597000 Severe Combined Immunodeficiency, X-linked 31 0 0 0 0.001786 0 0 MUC16 94025 broad.mit.edu 37 19 9089752 9089752 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:9089752G>A ENST00000397910.4 - 1 2266 c.2063C>T c.(2062-2064)tCa>tTa p.S688L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 688 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 CCTGAAAGCTGAGGACTGTAG 0.507000 58 50 0 0 0.003610 0 0 RYR2 6262 broad.mit.edu 37 1 237949319 237949319 + Silent SNP T T A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:237949319T>A ENST00000366574.2 + 91 13628 c.13311T>A c.(13309-13311)tcT>tcA p.S4437S RYR2_ENST00000360064.6_Silent_p.S4443S|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.S4421S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4437 Glu-rich (acidic). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) aaACCAAATCTGAACCTGAAA 0.378000 10 5 0 0 0.006214 0 0 THSD1 55901 broad.mit.edu 37 13 52952521 52952521 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr13:52952521G>A ENST00000349258.4 - 4 1969 c.1425C>T c.(1423-1425)ttC>ttT p.F475F THSD1_ENST00000258613.4_Silent_p.F528F|THSD1_ENST00000544466.1_Silent_p.F149F NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 528 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) GGCGGTAGCTGAACAGAGGTG 0.552000 5 256 0 0 0.001168 0 0 GPS2 2874 broad.mit.edu 37 17 7216947 7216947 + Nonsense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:7216947G>A ENST00000380728.2 - 7 874 c.574C>T c.(574-576)Cag>Tag p.Q192* GPS2_ENST00000391950.3_Nonsense_Mutation_p.Q192*|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Nonsense_Mutation_p.Q192* Q13227 GPS2_HUMAN G protein pathway suppressor 2 192 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity p.Q192*(1) breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) GGTGGGGGCTGAGCAGTCCCA 0.577000 OREG0024133 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 5 0 0 0.003610 0 0 NLRC5 84166 broad.mit.edu 37 16 57092020 57092020 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:57092020C>G ENST00000436936.1 + 28 4015 c.3790C>G c.(3790-3792)Ctg>Gtg p.L1264V NLRC5_ENST00000262510.6_Missense_Mutation_p.L1264V|NLRC5_ENST00000308149.7_Missense_Mutation_p.L1235V|NLRC5_ENST00000539144.1_Missense_Mutation_p.L1235V|RP11-322D14.2_ENST00000562970.1_RNA Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1264 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CAGATGCCTTCTGGAATGTCT 0.572000 10 12 0 0 0.000978 0 0 RPL7L1 285855 broad.mit.edu 37 6 42848633 42848633 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:42848633C>G ENST00000493763.1 + 2 352 c.49C>G c.(49-51)Ctg>Gtg p.L17V RPL7L1_ENST00000602561.1_Missense_Mutation_p.L17V|RPL7L1_ENST00000424341.2_Missense_Mutation_p.L17V|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000304734.5_Missense_Mutation_p.L17V NM_198486.2 NP_940888.2 Q6DKI1 RL7L_HUMAN ribosomal protein L7-like 1 17 translation large ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 Colorectal(47;0.196) Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088) AGAAAATCTCCTGAAAAAGAG 0.453000 40 27 0 0 0.008740 0 0 CPD 1362 broad.mit.edu 37 17 28791803 28791803 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:28791803G>C ENST00000225719.4 + 21 4190 c.4114G>C c.(4114-4116)Gag>Cag p.E1372Q CPD_ENST00000543464.2_Missense_Mutation_p.E1125Q NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1372 proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 AGACACTGAAGAGGAAACATT 0.413000 57 75 0 0 0.003610 0 0 CMTM1 113540 broad.mit.edu 37 16 66603973 66603973 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:66603973G>A ENST00000379500.2 + 2 634 c.567G>A c.(565-567)ctG>ctA p.L189L CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000528324.1_Silent_p.L72L|CMTM1_ENST00000328020.6_Silent_p.L189L|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000457188.2_Silent_p.L72L|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533666.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000535705.1_Intron NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 72 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) ACCACTTGCTGACCTATTTAC 0.388000 76 101 0 0 0.003610 0 0 TRIM65 201292 broad.mit.edu 37 17 73892977 73892977 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:73892977G>A ENST00000269383.3 - 1 107 c.42C>T c.(40-42)atC>atT p.I14I NM_001256124.1|NM_173547.3 NP_001243053.1|NP_775818.2 Q6PJ69 TRI65_HUMAN tripartite motif containing 65 14 intracellular zinc ion binding endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCCCAGGCAGATGGCGCAGG 0.726000 5 8 0 0 0.001168 0 0 ROBO2 6092 broad.mit.edu 37 3 77614213 77614213 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr3:77614213G>A ENST00000461745.1 + 12 2691 c.1791G>A c.(1789-1791)gcG>gcA p.A597A ROBO2_ENST00000332191.8_Silent_p.A597A|ROBO2_ENST00000487694.3_Silent_p.A613A NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 597 Fibronectin type-III 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TGGTCAGAGCGATCAACCCCC 0.498000 57 70 0 0 0.003610 0 0 CXorf38 159013 broad.mit.edu 37 X 40506339 40506339 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chrX:40506339G>A ENST00000327877.5 - 2 297 c.271C>T c.(271-273)Cat>Tat p.H91Y CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000378418.2_Missense_Mutation_p.H91Y NM_144970.2 NP_659407.1 Q8TB03 CX038_HUMAN chromosome X open reading frame 38 91 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 12 CTGTTGACATGATGTCTCAAA 0.632000 27 0 0 0 0.005443 0 0 IL2RG 3561 broad.mit.edu 37 X 70327726 70327726 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chrX:70327726C>G ENST00000374202.2 - 8 1061 c.970G>C c.(970-972)Gac>Cac p.D324H IL2RG_ENST00000456850.2_Missense_Mutation_p.D134H|IL2RG_ENST00000374188.3_Missense_Mutation_p.D53H NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 324 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) TCACTGTAGTCTGGCTGCAGA 0.577000 Severe Combined Immunodeficiency, X-linked 36 0 0 0 0.003271 0 0 TNS3 64759 broad.mit.edu 37 7 47453569 47453569 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:47453569G>C ENST00000398879.1 - 12 979 c.613C>G c.(613-615)Caa>Gaa p.Q205E TNS3_ENST00000355730.3_Missense_Mutation_p.Q205E|TNS3_ENST00000458317.2_Missense_Mutation_p.Q205E|TNS3_ENST00000311160.9_Missense_Mutation_p.Q205E|TNS3_ENST00000442536.2_Missense_Mutation_p.Q205E Q68CZ2 TENS3_HUMAN tensin 3 205 C2 tensin-type. focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 TGCATGGCTTGGTAGAGCTTC 0.552000 61 84 0 0 0.003610 0 0 TAAR6 319100 broad.mit.edu 37 6 132891943 132891943 + Silent SNP C C A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:132891943C>A ENST00000275198.1 + 1 483 c.483C>A c.(481-483)ctC>ctA p.L161L NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 161 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TCCTGCCCCTCATGTACAGCG 0.502000 155 154 2.98797e-67 3.65196e-67 0.003610 1 0 ST7 7982 broad.mit.edu 37 7 116849888 116849888 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:116849888G>A ENST00000265437.5 + 13 1516 c.1302G>A c.(1300-1302)ctG>ctA p.L434L ST7_ENST00000393451.3_Silent_p.L411L|ST7_ENST00000422922.1_Silent_p.L365L|ST7_ENST00000393447.4_Silent_p.L391L|ST7_ENST00000393444.3_Silent_p.L368L|ST7_ENST00000393443.1_Silent_p.L361L|ST7_ENST00000323984.3_Silent_p.L434L|ST7_ENST00000393449.1_Silent_p.L434L|ST7_ENST00000393446.2_Silent_p.L411L|ST7_ENST00000432298.1_Silent_p.L388L NM_021908.2 NP_068708.1 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 434 integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) AACATATCCTGAAGAGAGGAG 0.388000 4 33 0 0 0.000248 0 0 PRMT5 10419 broad.mit.edu 37 14 23398498 23398498 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr14:23398498C>T ENST00000324366.8 - 1 296 c.73G>A c.(73-75)Gaa>Aaa p.E25K PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000397440.4_5'UTR|PRMT5_ENST00000397441.2_5'UTR|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000553897.1_Missense_Mutation_p.E25K|PRMT5_ENST00000216350.8_5'UTR NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 25 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TCAGCTATTTCGGGGACGCAA 0.682000 19 18 0 0 0.007413 0 0 WDR1 9948 broad.mit.edu 37 4 10100690 10100690 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:10100690G>A ENST00000382452.2 - 4 585 c.303C>T c.(301-303)ttC>ttT p.F101F WDR1_ENST00000499869.2_Silent_p.F101F|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382451.2_Intron NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 101 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) TCTTCCCAGCGAAAGGCTGGT 0.577000 74 75 0 0 0.003610 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51397239 51397239 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:51397239G>A ENST00000327536.5 - 1 234 c.135C>T c.(133-135)atC>atT p.I45I RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 45 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) AAGATAAGGGGATGAGTCTTG 0.532000 14 104 0 0 0.002780 0 0 TRPC3 7222 broad.mit.edu 37 4 122831316 122831316 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:122831316G>A ENST00000264811.5 - 5 1984 c.1566C>T c.(1564-1566)ttC>ttT p.F522F TRPC3_ENST00000513531.1_Silent_p.F467F|TRPC3_ENST00000379645.3_Silent_p.F595F NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 510 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TACCATAAGTGAAATACTGTA 0.438000 31 56 0 0 0.002096 0 0 ZNF791 163049 broad.mit.edu 37 19 12739532 12739532 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:12739532C>T ENST00000343325.4 + 4 1351 c.1189C>T c.(1189-1191)Cta>Tta p.L397L ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Silent_p.L288L|ZNF791_ENST00000458122.3_Silent_p.L365L NM_153358.2 NP_699189.2 Q3KP31 ZN791_HUMAN zinc finger protein 791 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 CAATTATCCTCTAGATTTGAA 0.363000 48 64 0 0 0.003610 0 0 CATSPERG 57828 broad.mit.edu 37 19 38853103 38853103 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:38853103G>C ENST00000409235.3 + 19 2360 c.2245G>C c.(2245-2247)Gag>Cag p.E749Q CATSPERG_ENST00000410018.1_Missense_Mutation_p.E709Q|CATSPERG_ENST00000215069.4_3'UTR|AC005625.1_ENST00000590304.1_RNA NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 749 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 CTACAACCTCGAGTCCGCGTA 0.582000 36 54 0 0 0.003271 0 0 CSE1L 1434 broad.mit.edu 37 20 47707529 47707529 + Nonsense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:47707529C>T ENST00000262982.2 + 21 2458 c.2335C>T c.(2335-2337)Cag>Tag p.Q779* CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000542325.1_Nonsense_Mutation_p.Q562*|CSE1L_ENST00000396192.3_Nonsense_Mutation_p.Q723* NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 779 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) CCAGAGACTTCAGAATTCCAA 0.303000 20 56 0 0 0.001786 0 0 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 4 56 0 0 0.000248 0 0 HMCN1 83872 broad.mit.edu 37 1 186062644 186062644 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:186062644G>C ENST00000271588.4 + 66 10268 c.10039G>C c.(10039-10041)Gat>Cat p.D3347H HMCN1_ENST00000367492.2_Missense_Mutation_p.D3347H NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3347 Ig-like C2-type 32. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGGTAATAAAGATGAAGCAGA 0.383000 62 62 0 0 0.003610 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604577 140604577 + Silent SNP C C A rs142260227 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:140604577C>A ENST00000239449.4 + 1 1500 c.1500C>A c.(1498-1500)ctC>ctA p.L500L PCDHB14_ENST00000515856.2_Silent_p.L347L NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 500 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCTGCCCCTCGCCTCCTTGG 0.652000 93 91 3.06722e-38 3.73154e-38 0.003610 1 0 ZPBP 11055 broad.mit.edu 37 7 50023061 50023061 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:50023061G>A ENST00000046087.2 - 7 907 c.838C>T c.(838-840)Cgt>Tgt p.R280C ZPBP_ENST00000491129.1_5'UTR|ZPBP_ENST00000419417.1_Missense_Mutation_p.R279C NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 280 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) TGTTCTGCACGTCTGCCAAGA 0.323000 26 20 0 0 0.003330 0 0 DNAH9 1770 broad.mit.edu 37 17 11572854 11572854 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:11572854G>A ENST00000262442.4 + 17 3164 c.3096G>A c.(3094-3096)ggG>ggA p.G1032G DNAH9_ENST00000454412.2_Silent_p.G1032G NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGCTGTACGGGCACATCCTCA 0.517000 4 91 0 0 0.001168 0 0 MIR622 693207 broad.mit.edu 37 13 90883490 90883490 + RNA SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr13:90883490C>G ENST00000385123.1 + 0 55 NR_030754.1 CCACAGTGGTCATCACACAGT 0.522000 16 26 0 0 0.004007 0 0 BBS12 166379 broad.mit.edu 37 4 123664339 123664339 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:123664339G>A ENST00000542236.1 + 3 1673 c.1292G>A c.(1291-1293)cGg>cAg p.R431Q BBS12_ENST00000314218.3_Missense_Mutation_p.R431Q NM_001178007.1 NP_001171478.1 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 431 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 AACAGTAAGCGGTTGGTAATC 0.443000 Bardet-Biedl syndrome 50 44 0 0 0.003610 0 0 NOC3L 64318 broad.mit.edu 37 10 96106204 96106204 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:96106204G>C ENST00000371361.3 - 11 1467 c.1367C>G c.(1366-1368)tCt>tGt p.S456C NOC3L_ENST00000371350.1_Missense_Mutation_p.S456C|NOC3L_ENST00000543788.1_Missense_Mutation_p.S194C NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) 456 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) TCTTGATAGAGATTTTCTCTT 0.269000 18 41 0 0 0.007413 0 0 ZNF461 92283 broad.mit.edu 37 19 37129762 37129762 + Silent SNP T T C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:37129762T>C ENST00000588268.1 - 6 1712 c.1485A>G c.(1483-1485)aaA>aaG p.K495K ZNF461_ENST00000360357.4_Silent_p.K472K|ZNF461_ENST00000540605.2_5'UTR NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 495 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ATTCATAGGGTTTCTCACCAG 0.393000 15 68 0 0 0.002450 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661208 22661208 + RNA SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr22:22661208C>T ENST00000426066.1 + 0 300 NR_027293.1 CTGAATCATGCAGAATTTGAA 0.408000 5 41 0 0 0.001168 0 0 KIF5B 3799 broad.mit.edu 37 10 32311875 32311875 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:32311875C>T ENST00000302418.4 - 16 2272 c.1815G>A c.(1813-1815)gtG>gtA p.V605V NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 605 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) TGCAACGTTTCACCATGGTTT 0.403000 T """RET, ALK""" NSCLC 22 31 0 0 0.001523 0 0 OR2V2 285659 broad.mit.edu 37 5 180582343 180582343 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:180582343C>T ENST00000328275.1 + 1 401 c.401C>T c.(400-402)cCc>cTc p.P134L NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTCACTATCCCATCCTCATG 0.502000 56 72 0 0 0.003610 0 0 TRIM7 81786 broad.mit.edu 37 5 180625764 180625764 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:180625764G>C ENST00000393315.1 - 5 987 c.290C>G c.(289-291)tCt>tGt p.S97C CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000422067.2_Missense_Mutation_p.S97C|TRIM7_ENST00000361809.3_Missense_Mutation_p.S97C|TRIM7_ENST00000393319.3_Missense_Mutation_p.S123C|TRIM7_ENST00000274773.7_Missense_Mutation_p.S305C|CTC-338M12.6_ENST00000512508.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA NM_203296.1 NP_976041.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 305 cytoplasm|nucleus zinc ion binding p.S305C(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) CTTCATCTCAGAAGAGACTGT 0.527000 15 22 0 0 0.004007 0 0 BROX 148362 broad.mit.edu 37 1 222902115 222902115 + Missense_Mutation SNP A A G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:222902115A>G ENST00000340934.5 + 9 1107 c.701A>G c.(700-702)tAt>tGt p.Y234C BROX_ENST00000537020.1_Missense_Mutation_p.Y234C|BROX_ENST00000539697.1_Missense_Mutation_p.Y202C NM_144695.2 NP_653296.2 Q5VW32 BROX_HUMAN BRO1 domain and CAAX motif containing 234 BRO1. membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 GAGCCTGCATATTCTGCCAAA 0.318000 22 25 0 0 0.002780 0 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 16 19 0 0 0.001523 0 0 ANP32E 81611 broad.mit.edu 37 1 150198965 150198965 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:150198965G>A ENST00000314136.8 - 5 1025 c.656C>T c.(655-657)tCa>tTa p.S219L ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369115.2_Missense_Mutation_p.S87L|ANP32E_ENST00000436748.2_Missense_Mutation_p.S178L|ANP32E_ENST00000533654.1_Missense_Mutation_p.H164Y|ANP32E_ENST00000369119.3_Missense_Mutation_p.S171L|ANP32E_ENST00000369116.4_Missense_Mutation_p.S87L NM_001136478.2|NM_001280559.1|NM_030920.3 NP_001129950.1|NP_001267488.1|NP_112182.1 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member E 219 Asp/Glu-rich (highly acidic). cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1) 15 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CATTAAGTATGAGAGGCCCAC 0.413000 43 52 0 0 0.003610 0 0 DSCR3 10311 broad.mit.edu 37 21 38600636 38600636 + Nonsense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr21:38600636G>A ENST00000288304.5 - 7 1210 c.418C>T c.(418-420)Caa>Taa p.Q140* AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000398998.1_Silent_p.L134L|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000476950.1_Silent_p.L155L|DSCR3_ENST00000399001.1_Silent_p.L57L|DSCR3_ENST00000309117.6_Silent_p.L182L|DSCR3_ENST00000539844.1_Silent_p.L105L O14972 DSCR3_HUMAN Down syndrome critical region gene 3 180 vacuolar transport nucleus|retromer complex endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 TTGTTGAGTTGAGATGTCCTC 0.507000 28 39 0 0 0.001786 0 0 RAD23A 5886 broad.mit.edu 37 19 13059906 13059906 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:13059906G>A ENST00000586534.1 + 6 673 c.612G>A c.(610-612)ggG>ggA p.G204G RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000592268.1_Silent_p.G204G|RAD23A_ENST00000541222.1_Silent_p.G39G|RAD23A_ENST00000316856.3_Silent_p.G204G P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) 204 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 GAATTCCTGGGAGCCCCGAGC 0.637000 Nucleotide excision repair (NER) 7 8 0 0 0.001984 0 0 BFAR 51283 broad.mit.edu 37 16 14749055 14749055 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:14749055C>T ENST00000261658.2 + 5 1048 c.771C>T c.(769-771)ctC>ctT p.L257L BFAR_ENST00000563971.1_Silent_p.L132L|BFAR_ENST00000426842.2_Silent_p.L129L NM_016561.2 NP_057645.1 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 257 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 CCCAGAATCTCTGGGAATATA 0.343000 46 53 0 0 0.002222 0 0 PNKP 11284 broad.mit.edu 37 19 50370414 50370414 + Silent SNP A A G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:50370414A>G ENST00000322344.3 - 2 157 c.48T>C c.(46-48)ccT>ccC p.P16P PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 16 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding p.P16P(8) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GCGCTCCCCCAGGGGGGCTCT 0.721000 Other BER factors 7 23 0 0 0.001368 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796727 62796727 + RNA SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:62796727G>A ENST00000582986.1 - 0 1193 NR_024386.1 TCCTCCTGCTGAGGCCGGACC 0.667000 32 61 0 0 0.001786 0 0 NLRP3 114548 broad.mit.edu 37 1 247607346 247607346 + Silent SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:247607346C>G ENST00000366497.2 + 7 3351 c.2571C>G c.(2569-2571)ctC>ctG p.L857L NLRP3_ENST00000336119.3_Silent_p.L914L|NLRP3_ENST00000391827.2_Silent_p.L857L|NLRP3_ENST00000391828.3_Silent_p.L914L|NLRP3_ENST00000348069.2_Silent_p.L800L|NLRP3_ENST00000366496.2_Silent_p.L857L NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 914 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ATCAGAATCTCACGCACCTTT 0.517000 34 31 0 0 0.003271 0 0 MACF1 23499 broad.mit.edu 37 1 39550081 39550081 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:39550081C>T ENST00000567887.1 + 1 348 c.191C>T c.(190-192)cCt>cTt p.P64L MACF1_ENST00000602421.1_Missense_Mutation_p.P64L|MACF1_ENST00000317713.7_Missense_Mutation_p.P64L|MACF1_ENST00000484793.1_Missense_Mutation_p.P64L|MACF1_ENST00000539005.1_Missense_Mutation_p.P64L|MACF1_ENST00000545844.1_Missense_Mutation_p.P64L|MACF1_ENST00000372915.3_Missense_Mutation_p.P64L|MACF1_ENST00000361689.2_Missense_Mutation_p.P64L Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 64 Actin-binding. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTGCTGGACCCTGCAGAGCGT 0.632000 19 20 0 0 0.008871 0 0 ZDHHC21 340481 broad.mit.edu 37 9 14674276 14674276 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr9:14674276G>A ENST00000380916.4 - 4 529 c.63C>T c.(61-63)gtC>gtT p.V21V NM_178566.4 NP_848661.1 Q8IVQ6 ZDH21_HUMAN zinc finger, DHHC-type containing 21 nitric oxide metabolic process|regulation of nitric-oxide synthase activity Golgi membrane|integral to membrane palmitoyltransferase activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 GBM - Glioblastoma multiforme(50;4.31e-06) ACCAAACAAAGACAATCAAAC 0.378000 3 45 0 0 0.004672 0 0 GDF9 2661 broad.mit.edu 37 5 132200111 132200111 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:132200111C>T ENST00000378673.2 - 2 981 c.115G>A c.(115-117)Gag>Aag p.E39K GDF9_ENST00000296875.2_Missense_Mutation_p.E39K|GDF9_ENST00000464378.1_Intron O60383 GDF9_HUMAN growth differentiation factor 9 39 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GATTCCAACTCAGCACTAGCA 0.502000 56 61 0 0 0.003610 0 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81443300 81443300 + RNA SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:81443300C>G ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA TCAACACCCTCACGTCCAACA 0.567000 8 5 0 0 0.003080 0 0 SLC43A2 124935 broad.mit.edu 37 17 1478943 1478943 + Silent SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:1478943G>C ENST00000301335.5 - 14 1753 c.1665C>G c.(1663-1665)ctC>ctG p.L555L SLC43A2_ENST00000571650.1_Silent_p.L559L|SLC43A2_ENST00000412517.3_Silent_p.L418L|SLC43A2_ENST00000382147.4_Silent_p.L559L NM_001284498.1|NM_001284499.1 NP_001271427.1|NP_001271428.1 Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) TTTTGAGGAAGAGTTTGTCAT 0.617000 10 1 0 0 0.003163 0 0 CHST6 4166 broad.mit.edu 37 16 75512780 75512780 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:75512780C>T ENST00000332272.4 - 3 1126 c.947G>A c.(946-948)cGc>cAc p.R316H RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R316H NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 316 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GAAGGCTTCGCGGCGCGCACC 0.627000 40 46 0 0 0.005524 0 0 TMEM68 137695 broad.mit.edu 37 8 56675387 56675387 + Silent SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr8:56675387G>C ENST00000434581.2 - 3 331 c.132C>G c.(130-132)ctC>ctG p.L44L TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000521229.1_Silent_p.L44L|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000522576.1_Silent_p.L44L|TMEM68_ENST00000334667.2_Silent_p.L44L Q96MH6 TMM68_HUMAN transmembrane protein 68 44 integral to membrane acyltransferase activity NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 Epithelial(17;0.000361)|all cancers(17;0.00326) AAACCCACAAGAGATAGTTTG 0.338000 16 27 0 0 0.004990 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40618453 40618453 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:40618453C>G ENST00000343619.4 + 3 247 c.124C>G c.(124-126)Cca>Gca p.P42A ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.P42A|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.P42A|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.P42A|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.P42A|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.P42A NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 42 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TCAGTTAAATCCAGATGTGAA 0.318000 26 24 0 0 0.005443 0 0 RMND5A 64795 broad.mit.edu 37 2 86992260 86992260 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:86992260G>A ENST00000283632.4 + 5 1127 c.632G>A c.(631-633)cGa>cAa p.R211Q NM_022780.3 NP_073617.1 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog A (S. cerevisiae) 211 kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 17 ACAAATCAGCGAGAGGCATTA 0.368000 38 39 0 0 0.005524 0 0 PPRC1 23082 broad.mit.edu 37 10 103897653 103897653 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:103897653C>T ENST00000278070.2 + 2 239 c.200C>T c.(199-201)tCt>tTt p.S67F PPRC1_ENST00000413464.2_Missense_Mutation_p.S67F NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 67 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GTCAGTCTCTCTCGGCTGGGC 0.562000 21 26 0 0 0.001523 0 0 CNTN6 27255 broad.mit.edu 37 3 1424976 1424976 + Splice_Site SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr3:1424976G>C ENST00000446702.2 + 19 3028 c.e19-1 CNTN6_ENST00000539053.1_Splice_Site|CNTN6_ENST00000350110.2_Splice_Site Q9UQ52 CNTN6_HUMAN contactin 6 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CTGGATGGTAGAACCTCAACT 0.428000 91 135 0 0 0.003610 0 0 SVILP1 645954 broad.mit.edu 37 10 30987346 30987346 + RNA SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:30987346G>C ENST00000435645.1 + 0 479 AGCCATAATAGAAACTAACTG 0.428000 3 54 0 0 0.004672 0 0 ESYT1 23344 broad.mit.edu 37 12 56536837 56536837 + Silent SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:56536837C>G ENST00000394048.5 + 28 3288 c.3024C>G c.(3022-3024)ccC>ccG p.P1008P ESYT1_ENST00000541590.1_Silent_p.P1018P|ESYT1_ENST00000267113.4_Silent_p.P1018P NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 1008 C2 5. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 CTCCTGATCCCTATGTGTCAC 0.522000 75 85 0 0 0.003610 0 0 PKMYT1 9088 broad.mit.edu 37 16 3026840 3026840 + Missense_Mutation SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:3026840G>T ENST00000431515.2 - 3 588 c.203C>A c.(202-204)cCt>cAt p.P68H PKMYT1_ENST00000574385.1_Missense_Mutation_p.P59H|PKMYT1_ENST00000573944.1_Missense_Mutation_p.P59H|PKMYT1_ENST00000440027.2_Missense_Mutation_p.P68H|PKMYT1_ENST00000574730.1_Intron|PKMYT1_ENST00000262300.8_Missense_Mutation_p.P68H Q99640 PMYT1_HUMAN protein kinase, membrane associated tyrosine/threonine 1 68 Pro-rich. G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GGTCCGAGGAGGGAAGAGGCG 0.692000 5 4 0.000602214 0.000694256 0.000602 1 0 ARHGAP35 2909 broad.mit.edu 37 19 47423517 47423517 + Nonsense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:47423517C>T ENST00000404338.3 + 1 1585 c.1585C>T c.(1585-1587)Cga>Tga p.R529* NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 529 FF 4. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity p.R529*(2) AGAGGAACAGCGATTTAAAGC 0.443000 74 102 0 0 0.003610 0 0 YY1AP1 55249 broad.mit.edu 37 1 155629952 155629952 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:155629952C>G ENST00000368340.5 - 10 2211 c.2103G>C c.(2101-2103)caG>caC p.Q701H YY1AP1_ENST00000311573.5_Missense_Mutation_p.Q552H|YY1AP1_ENST00000535662.1_Missense_Mutation_p.Q429H|YY1AP1_ENST00000361831.5_Missense_Mutation_p.Q572H|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000355499.4_Missense_Mutation_p.Q583H|YY1AP1_ENST00000368330.2_Missense_Mutation_p.Q583H|YY1AP1_ENST00000404643.1_Missense_Mutation_p.Q563H|YY1AP1_ENST00000347088.5_Missense_Mutation_p.Q583H|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.Q572H|YY1AP1_ENST00000368339.5_Missense_Mutation_p.Q721H|YY1AP1_ENST00000407221.1_Missense_Mutation_p.Q552H|YY1AP1_ENST00000295566.4_Missense_Mutation_p.Q629H NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TCTGGGGACTCTGGGCCACAG 0.542000 48 44 0 0 0.003610 0 0 HECW2 57520 broad.mit.edu 37 2 197090585 197090585 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:197090585G>A ENST00000260983.3 - 23 4109 c.3927C>T c.(3925-3927)ttC>ttT p.F1309F HECW2_ENST00000409111.1_Silent_p.F953F NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TCCTACCACTGAATCGGAACC 0.438000 31 22 0 0 0.001786 0 0 HUWE1 10075 broad.mit.edu 37 X 53631583 53631583 + Missense_Mutation SNP G G C rs141644800 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chrX:53631583G>C ENST00000342160.3 - 25 3166 c.2709C>G c.(2707-2709)atC>atG p.I903M HUWE1_ENST00000218328.8_Missense_Mutation_p.I903M|HUWE1_ENST00000262854.6_Missense_Mutation_p.I903M Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 903 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CAAACATCATGATGTAGGCAT 0.473000 34 0 0 0 0.003271 0 0 RMND5A 64795 broad.mit.edu 37 2 86992169 86992169 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:86992169G>A ENST00000283632.4 + 5 1036 c.541G>A c.(541-543)Gaa>Aaa p.E181K NM_022780.3 NP_073617.1 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog A (S. cerevisiae) 181 CTLH. E -> G (in Ref. 1; BAB14257). kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 17 GTCAAACCGGGAAATGCTTAT 0.373000 34 40 0 0 0.007835 0 0 STAG2 10735 broad.mit.edu 37 X 123197011 123197011 + Nonsense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chrX:123197011C>T ENST00000371160.1 + 19 2067 c.1777C>T c.(1777-1779)Cag>Tag p.Q593* STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q524*|STAG2_ENST00000469481.1_Intron NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 593 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 GCAGTTGCCTCAGTACTTTGA 0.279000 31 1 0 0 0.002445 0 0 MTSS1L 92154 broad.mit.edu 37 16 70713737 70713737 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:70713737C>G ENST00000338779.6 - 5 608 c.334G>C c.(334-336)Gag>Cag p.E112Q NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 112 IMD. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 TTCCAGTCCTCGATGCGCTCC 0.726000 14 10 0 0 0.003163 0 0 GAB1 2549 broad.mit.edu 37 4 144361407 144361407 + Missense_Mutation SNP G G A rs66781203 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:144361407G>A ENST00000262995.4 + 6 1884 c.1457G>A c.(1456-1458)gGa>gAa p.G486E GAB1_ENST00000505913.1_Missense_Mutation_p.G383E|GAB1_ENST00000262994.4_Missense_Mutation_p.G486E NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 486 Pro-rich. cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) TCCTCATTTGGAATGCAAGTT 0.483000 47 35 0 0 0.003214 0 0 OR4N4 283694 broad.mit.edu 37 15 22382961 22382961 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:22382961C>T ENST00000328795.4 + 1 580 c.489C>T c.(487-489)atC>atT p.I163I RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGGTCCTCATCCTCCGCTTGC 0.522000 55 235 0 0 0.003610 0 0 CDHR1 92211 broad.mit.edu 37 10 85973981 85973981 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:85973981G>C ENST00000372117.3 + 17 2287 c.2184G>C c.(2182-2184)aaG>aaC p.K728N CDHR1_ENST00000440770.2_Missense_Mutation_p.K432N|CDHR1_ENST00000332904.3_Intron NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 728 homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GGCGCAACAAGAAGTCTAACA 0.642000 42 35 0 0 0.003610 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750327 140750327 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:140750327G>A ENST00000576222.1 + 1 497 c.366G>A c.(364-366)ctG>ctA p.L122L PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAACTGTGCTGATCCAGGATA 0.443000 127 107 0 0 0.003610 0 0 RNF10 9921 broad.mit.edu 37 12 121001667 121001667 + Missense_Mutation SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:121001667G>T ENST00000325954.4 + 10 2047 c.1586G>T c.(1585-1587)cGg>cTg p.R529L RNF10_ENST00000413266.2_Missense_Mutation_p.R534L NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 529 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGCCTCGTGCGGGAGTACGGC 0.572000 78 111 5.41795e-27 6.50154e-27 0.003610 1 0 SOX5 6660 broad.mit.edu 37 12 23893927 23893927 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:23893927C>G ENST00000546136.1 - 4 578 c.576G>C c.(574-576)atG>atC p.M192I SOX5_ENST00000541847.1_Missense_Mutation_p.M195I|SOX5_ENST00000537393.1_Missense_Mutation_p.M170I|SOX5_ENST00000545921.1_Missense_Mutation_p.M195I|SOX5_ENST00000309359.1_Missense_Mutation_p.M192I|SOX5_ENST00000381381.2_Missense_Mutation_p.M192I|SOX5_ENST00000541536.1_Missense_Mutation_p.M192I|SOX5_ENST00000451604.2_Missense_Mutation_p.M205I P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 205 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 GCTGGTTGATCATACCCATGA 0.438000 31 36 0 0 0.001786 0 0 PMS2P4 5382 broad.mit.edu 37 7 66764305 66764305 + RNA SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:66764305C>G ENST00000414507.1 - 0 150 AGACTGTTTTCTACTAACTCC 0.453000 5 387 0 0 0.001168 0 0 ABCD3 5825 broad.mit.edu 37 1 94964399 94964399 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:94964399C>G ENST00000370214.4 + 18 1549 c.1525C>G c.(1525-1527)Cct>Gct p.P509A ABCD3_ENST00000394233.2_Missense_Mutation_p.P399A|ABCD3_ENST00000454898.2_Missense_Mutation_p.P533A|ABCD3_ENST00000536817.1_Missense_Mutation_p.P436A|ABCD3_ENST00000484213.1_3'UTR NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 509 ABC transporter. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) ATTTTATGTTCCTCAGGTAAG 0.318000 38 42 0 0 0.006230 0 0 UNC5B 219699 broad.mit.edu 37 10 73053303 73053303 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:73053303G>C ENST00000335350.6 + 12 2330 c.1914G>C c.(1912-1914)aaG>aaC p.K638N UNC5B_ENST00000373192.4_Missense_Mutation_p.K627N NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 638 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 TTCAGCTCAAGACCCAGGCCC 0.637000 32 48 0 0 0.003271 0 0 IGSF10 285313 broad.mit.edu 37 3 151166216 151166216 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr3:151166216C>G ENST00000282466.3 - 4 1552 c.1553G>C c.(1552-1554)aGa>aCa p.R518T NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 518 Ig-like C2-type 1. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATAAGGGGCTCTCACTTTACT 0.498000 103 108 0 0 0.003610 0 0 DNAJC11 55735 broad.mit.edu 37 1 6694732 6694732 + Frame_Shift_Del DEL C C - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:6694732delC ENST00000349363.6 - 8 852 c.811delG c.(811-813)gaafs p.E271fs DNAJC11_ENST00000465508.1_5'UTR|THAP3_ENST00000377627.3_3'UTR|DNAJC11_ENST00000377577.5_3'UTR Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 0 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) CCGCTGCATTCTGCATCCCAA 0.637 OREG0013046 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 8 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391923 143391924 + RNA DEL AT AT - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:143391923_143391924delAT ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA TATTTTGGAGATATATATATAT 0.262 3 3 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36651923 36651930 + Frame_Shift_Del DEL CAAGGCCT CAAGGCCT - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:36651923_36651930delCAAGGCCT ENST00000405375.1 + 2 280_287 c.45_52delCAAGGCCT c.(43-54)agcaaggcctgcfs p.SKAC15fs CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.SKAC15fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.SKAC49fs|CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.SKAC15fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 15 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding p.S15fs*15(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 CATGCGGCAGCAAGGCCTGCCGCCGCCT 0.635 11 1 --- --- --- --- STAG3L4 64940 broad.mit.edu 37 7 66772494 66772495 + RNA INS - - T rs113583073 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:66772494_66772495insT ENST00000416602.2 + 0 362 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) TGCTTGATTCCTTTTTTTTTTT 0.426 4 6 --- --- --- --- AZGP1P1 646282 broad.mit.edu 37 7 99581179 99581179 + RNA DEL C C - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:99581179delC ENST00000425474.1 + 0 500 NR_036679.1 CCGCATCCCACCCCCCCCACA 0.577 2 4 --- --- --- --- RP11-273B20.3 0 broad.mit.edu 37 12 7338794 7338794 + RNA DEL G G - rs34548221 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:7338794delG ENST00000545794.1 - 0 279 RP11-273B20.3_ENST00000543061.1_RNA cctgttgagaggggggactga 0.502 3 4 --- --- --- --- SYCP3 50511 broad.mit.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:102122901delT ENST00000392927.3 - 8 774 c.643delA c.(643-645)attfs p.I215fs SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 215 Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TCCATCATAATTTTTTTTTGC 0.259 7 70 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124885065 124885065 + Frame_Shift_Del DEL G G - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:124885065delG ENST00000356219.3 - 16 1950 c.1795delC c.(1795-1797)cagfs p.Q600fs NCOR2_ENST00000397355.1_Frame_Shift_Del_p.Q600fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.Q599fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.Q600fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.Q170fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.Q599fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 600 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCGCTCTGCTGGGGGGTGATG 0.622 65 92 --- --- --- --- ITFG1 81533 broad.mit.edu 37 16 47195718 47195719 + Frame_Shift_Ins INS - - CAGTC TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:47195718_47195719insCAGTC ENST00000320640.6 - 16 1831_1832 c.1603_1604insGACTG c.(1603-1605)gcafs p.A535fs RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Frame_Shift_Ins_p.A422fs NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 535 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) TGGAATGATTGCAGTCCACTCT 0.337 7 109 --- --- --- --- PDXDC2P 283970 broad.mit.edu 37 16 70066043 70066043 + RNA DEL A A - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:70066043delA ENST00000531894.1 - 0 751 NR_003610.1 AGCCAAGCCGAAAAAAAAAAA 0.289 4 6 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 5 8 --- --- --- --- MEX3D 399664 broad.mit.edu 37 19 1556090 1556090 + Frame_Shift_Del DEL A A - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:1556090delA ENST00000402693.4 - 2 1427 c.1428delT c.(1426-1428)tttfs p.F476fs MEX3D_ENST00000388824.6_Frame_Shift_Del_p.F476fs NM_203304.3 NP_976049.3 Q86XN8 MEX3D_HUMAN mex-3 RNA binding family member D 476 mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding endometrium(1)|lung(3) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCGCGCTCAAAAGGCGCCC 0.756 2 4 --- --- --- --- RASIP1 54922 broad.mit.edu 37 19 49232663 49232663 + Frame_Shift_Del DEL C C - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:49232663delC ENST00000222145.4 - 5 1568 c.1364delG c.(1363-1365)ggcfs p.G455fs NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 455 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GACTGGGGCGCCCCGGGACGG 0.701 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- ---