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 CYP2B6 1555 broad.mit.edu 37 19 41518596 41518596 + Silent SNP C C G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr19:41518596C>G ENST00000324071.4 + 8 1177 c.1170C>G c.(1168-1170)ctC>ctG p.L390L CYP2B6_ENST00000593831.1_Silent_p.L154L|CYP2B6_ENST00000330446.5_Silent_p.L190L NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 390 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) AAGTATTTCTCATCCTGAGCA 0.448000 51 106 0 0 0.014410 0 0 KMT2D 8085 broad.mit.edu 37 12 49433218 49433218 + Splice_Site SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr12:49433218C>A ENST00000301067.7 - 32 8228 c.8229G>T c.(8227-8229)caG>caT p.Q2743H NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CTCTACCTACCTGTGTCCCAG 0.597000 8 27 5.18039e-06 7.02016e-06 0.003080 1 0 CXCL12 6387 broad.mit.edu 37 10 44873249 44873249 + Missense_Mutation SNP A A G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr10:44873249A>G ENST00000395794.2 - 4 414 c.371T>C c.(370-372)aTc>aCc p.I124T CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000343575.6_3'UTR NM_001178134.1 NP_001171605.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) CCAAAGACGGATCTCACAGAG 0.607000 6 16 0 0 0.004482 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421673 62421673 + Silent SNP G G A rs142438754 byFrequency TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr20:62421673G>A ENST00000245663.4 - 2 588 c.438C>T c.(436-438)atC>atT p.I146I ZBTB46_ENST00000395104.1_Silent_p.I146I|ZBTB46_ENST00000302995.2_Silent_p.I146I NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) ACGAGGCGCCGATCTCGAACT 0.617000 9 20 0 0 0.008291 0 0 RABGAP1 23637 broad.mit.edu 37 9 125746950 125746950 + Missense_Mutation SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr9:125746950G>T ENST00000373647.4 + 3 471 c.337G>T c.(337-339)Ggg>Tgg p.G113W NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 113 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 GCCATTAGTAGGGCTCCAAAA 0.453000 7 48 8.12818e-05 0.000106179 0.001984 1 0 IKZF2 22807 broad.mit.edu 37 2 213872245 213872245 + Missense_Mutation SNP C C G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr2:213872245C>G ENST00000457361.1 - 8 1588 c.1420G>C c.(1420-1422)Gag>Cag p.E474Q IKZF2_ENST00000421754.2_Missense_Mutation_p.E400Q|IKZF2_ENST00000374327.4_Missense_Mutation_p.E329Q|IKZF2_ENST00000434687.1_Missense_Mutation_p.E474Q|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374319.4_Missense_Mutation_p.E448Q|IKZF2_ENST00000342002.2_Missense_Mutation_p.E480Q|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.E402Q NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CGGCAGTGCTCACACTTGAAG 0.498000 17 118 0 0 0.007413 0 0 FBN3 84467 broad.mit.edu 37 19 8131048 8131048 + Missense_Mutation SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr19:8131048C>A ENST00000600128.1 - 64 8599 c.8185G>T c.(8185-8187)Gcc>Tcc p.A2729S FBN3_ENST00000601739.1_Missense_Mutation_p.A2729S|FBN3_ENST00000270509.2_Missense_Mutation_p.A2729S Q75N90 FBN3_HUMAN fibrillin 3 2729 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCCTCCAGGGCCGGCCGGAGC 0.662000 7 44 0.000157383 0.000200181 0.003080 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125298899 125298899 + Missense_Mutation SNP G G A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chrX:125298899G>A ENST00000538699.1 - 2 1089 c.1009C>T c.(1009-1011)Cgc>Tgc p.R337C DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R337C NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 337 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 TTCTGCTGGCGCTGGCGCGGA 0.627000 4 75 0 0 0.009096 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417951 150417951 + Missense_Mutation SNP C C G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr7:150417951C>G ENST00000307194.5 + 3 999 c.859C>G c.(859-861)Ctg>Gtg p.L287V NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGGCGCGCTCCTGTTCTGGGT 0.682000 4 5 0 0 0.000602 0 0 APLP2 334 broad.mit.edu 37 11 130005576 130005576 + Silent SNP C C T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr11:130005576C>T ENST00000263574.5 + 13 1875 c.1803C>T c.(1801-1803)ccC>ccT p.P601P APLP2_ENST00000543137.1_Silent_p.P508P|APLP2_ENST00000338167.5_Silent_p.P601P|APLP2_ENST00000539648.1_Silent_p.P389P|APLP2_ENST00000278756.7_Silent_p.P611P|APLP2_ENST00000345598.5_Silent_p.P372P|APLP2_ENST00000528499.1_Silent_p.P545P NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 601 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) CGTTCCACCCCTTCCACCCCT 0.577000 26 61 0 0 0.006320 0 0 CDHR3 222256 broad.mit.edu 37 7 105615295 105615295 + Nonsense_Mutation SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr7:105615295G>T ENST00000542731.1 + 2 160 c.52G>T c.(52-54)Gaa>Taa p.E18* CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000541203.1_Nonsense_Mutation_p.E18*|CDHR3_ENST00000478080.1_Intron|CDHR3_ENST00000317716.9_Nonsense_Mutation_p.E18*|CDHR3_ENST00000343407.5_5'UTR Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 18 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CACAGGGGGAGAAGCACTACA 0.473000 8 110 5.18039e-06 7.02016e-06 0.003080 1 0 MALAT1 378938 broad.mit.edu 37 11 65266271 65266271 + RNA SNP T T A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr11:65266271T>A ENST00000534336.1 + 0 1039 NR_002819.2 GATTTCCATGTTTCTTTTGTC 0.363000 24 147 0 0 0.003954 0 0 FRY 10129 broad.mit.edu 37 13 32757159 32757159 + Silent SNP A A G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr13:32757159A>G ENST00000380250.3 + 24 3538 c.3042A>G c.(3040-3042)gaA>gaG p.E1014E NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1014 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AAGCTCTGGAAAGAAGACCAG 0.323000 8 62 0 0 0.006214 0 0 EPPK1 83481 broad.mit.edu 37 8 144947044 144947044 + Silent SNP G G A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr8:144947044G>A ENST00000525985.1 - 2 449 c.378C>T c.(376-378)taC>taT p.Y126Y P58107 EPIPL_HUMAN epiplakin 1 126 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCTCACCGCCGTAGGGGTCAG 0.667000 15 50 0 0 0.004007 0 0 ABCA13 154664 broad.mit.edu 37 7 48375056 48375056 + Missense_Mutation SNP C C G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr7:48375056C>G ENST00000435803.1 + 28 10061 c.10037C>G c.(10036-10038)aCt>aGt p.T3346S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3346 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AAACTAAAAACTTTATCAGAA 0.398000 11 58 0 0 0.008291 0 0 MTBP 27085 broad.mit.edu 37 8 121500533 121500533 + Missense_Mutation SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr8:121500533C>A ENST00000305949.1 + 12 1345 c.1300C>A c.(1300-1302)Cat>Aat p.H434N NM_022045.4 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 434 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) CAATTTAATTCATGGAAAGAT 0.348000 7 38 3.09899e-07 4.58523e-07 0.004482 1 0 MGAT1 4245 broad.mit.edu 37 5 180219548 180219548 + Missense_Mutation SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr5:180219548C>A ENST00000446023.2 - 3 1174 c.424G>T c.(424-426)Gac>Tac p.D142Y MGAT1_ENST00000427865.2_Missense_Mutation_p.D142Y|MGAT1_ENST00000393340.3_Missense_Mutation_p.D142Y|MGAT1_ENST00000307826.4_Missense_Mutation_p.D142Y|MGAT1_ENST00000333055.3_Missense_Mutation_p.D142Y NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 142 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGCCCGCAGTCCTGGCTAACG 0.672000 19 31 5.35267e-07 7.68452e-07 0.007413 1 0 HOXA7 3204 broad.mit.edu 37 7 27195993 27195993 + Missense_Mutation SNP T T A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr7:27195993T>A ENST00000242159.3 - 1 305 c.172A>T c.(172-174)Aac>Tac p.N58Y NM_006896.3 NP_008827.2 P31268 HXA7_HUMAN homeobox A7 58 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1) 16 AGGGGGCTGTTGACATTGTAT 0.652000 26 65 0 0 0.004656 0 0 OR8I2 120586 broad.mit.edu 37 11 55861545 55861545 + Silent SNP G G A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr11:55861545G>A ENST00000302124.2 + 1 793 c.762G>A c.(760-762)ctG>ctA p.L254L NM_001003750.1 NP_001003750.1 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) ATGGGTCTCTGATTTTCACCT 0.502000 22 120 0 0 0.014323 0 0 KMT2D 8085 broad.mit.edu 37 12 49433217 49433217 + Splice_Site SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr12:49433217C>A ENST00000301067.7 - 32 8229 c.e32+1 NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ACTCTACCTACCTGTGTCCCA 0.597000 8 27 5.18039e-06 7.02016e-06 0.003080 1 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72685542 72685542 + RNA SNP G G A rs2539086 TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr7:72685542G>A ENST00000425256.1 - 0 116 ACGTTACCATGACAAAAGCAG 0.463000 4 116 0 0 0.006214 0 0 C7 730 broad.mit.edu 37 5 40936538 40936538 + Missense_Mutation SNP T T G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr5:40936538T>G ENST00000313164.9 + 5 738 c.379T>G c.(379-381)Tcc>Gcc p.S127A NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 127 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AAGGAGACCTTCCTGTGATAT 0.438000 4 22 0 0 0.009096 0 0 GSTT1 2952 broad.mit.edu 37 22 24384187 24384187 + Silent SNP G G A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr22:24384187G>A ENST00000248935.5 - 1 97 c.45C>T c.(43-45)cgC>cgT p.R15R GSTT1_ENST00000439996.2_5'UTR NM_000853.2 NP_000844.2 P30711 GSTT1_HUMAN glutathione S-transferase theta 1 15 GST N-terminal. glutathione metabolic process cytosol|soluble fraction glutathione peroxidase activity|glutathione transferase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1) 6 Glutathione(DB00143) TGTAAACAGCGCGGCAGGGCT 0.577000 Myelodysplasia and Acute Myeloid Leukemia (AML), Familial 70 25 0 0 0.014410 0 0 LNPEP 4012 broad.mit.edu 37 5 96339207 96339207 + Missense_Mutation SNP A A G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr5:96339207A>G ENST00000231368.5 + 9 2434 c.1742A>G c.(1741-1743)tAt>tGt p.Y581C LNPEP_ENST00000395770.3_Missense_Mutation_p.Y567C NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 581 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) AATCACAGCTATGCATCTATT 0.353000 11 62 0 0 0.010729 0 0 AK8 158067 broad.mit.edu 37 9 135601202 135601202 + Missense_Mutation SNP C C T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr9:135601202C>T ENST00000298545.3 - 13 1834 c.1313G>A c.(1312-1314)aGg>aAg p.R438K AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 438 Adenylate kinase. cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 AGCTGAGTTCCTGTAGAACAG 0.527000 9 15 0 0 0.006214 0 0 OR10K2 391107 broad.mit.edu 37 1 158390585 158390585 + Silent SNP C C T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr1:158390585C>T ENST00000314902.2 - 1 71 c.72G>A c.(70-72)caG>caA p.Q24Q NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) AGAGCAGCTGCTGCAGCCTGG 0.522000 28 65 0 0 0.005443 0 0 HERC2 8924 broad.mit.edu 37 15 28501094 28501094 + Missense_Mutation SNP T T A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr15:28501094T>A ENST00000261609.7 - 19 2903 c.2795A>T c.(2794-2796)gAt>gTt p.D932V NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 932 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CACCAGAAGATCAATCATGAA 0.488000 10 59 0 0 0.010729 0 0 CCSER1 401145 broad.mit.edu 37 4 91230145 91230145 + Missense_Mutation SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr4:91230145G>T ENST00000509176.1 + 2 998 c.710G>T c.(709-711)cGg>cTg p.R237L CCSER1_ENST00000333691.8_Missense_Mutation_p.R237L|CCSER1_ENST00000432775.2_Missense_Mutation_p.R237L NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 GTAACAGAACGGGCAGGAAGC 0.428000 9 83 5.4927e-09 8.3836e-09 0.004482 1 0 SELENBP1 8991 broad.mit.edu 37 1 151337031 151337031 + Missense_Mutation SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr1:151337031G>T ENST00000435071.1 - 12 1677 c.1215C>A c.(1213-1215)gaC>gaA p.D405E SELENBP1_ENST00000368868.5_Missense_Mutation_p.D469E|SELENBP1_ENST00000426705.2_Missense_Mutation_p.D511E|SELENBP1_ENST00000447402.3_Missense_Mutation_p.D407E Q13228 SBP1_HUMAN selenium binding protein 1 469 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AAATCCAGATGTCAGAGCTAC 0.582000 17 119 0.000566183 0.000713883 0.004990 1 0 CHD6 84181 broad.mit.edu 37 20 40042085 40042085 + Missense_Mutation SNP G G A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr20:40042085G>A ENST00000373233.3 - 35 7187 c.7010C>T c.(7009-7011)tCg>tTg p.S2337L CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2337 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CTCAGGAGCCGAGGTGGCAGG 0.572000 7 33 0 0 0.001984 0 0 STAG1 10274 broad.mit.edu 37 3 136152474 136152474 + Missense_Mutation SNP A A C TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr3:136152474A>C ENST00000383202.2 - 16 1830 c.1574T>G c.(1573-1575)cTt>cGt p.L525R STAG1_ENST00000236698.5_Missense_Mutation_p.L525R|STAG1_ENST00000536929.1_Missense_Mutation_p.L109R|STAG1_ENST00000434713.2_Missense_Mutation_p.L299R NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 525 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TAGCTCTATAAGAGCACTCTC 0.393000 21 50 0 0 0.004656 0 0 SEC31B 25956 broad.mit.edu 37 10 102265906 102265906 + Missense_Mutation SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr10:102265906C>A ENST00000370345.3 - 9 1032 c.935G>T c.(934-936)tGc>tTc p.C312F SEC31B_ENST00000370329.5_Missense_Mutation_p.C315F|SEC31B_ENST00000451524.1_Missense_Mutation_p.C312F|SEC31B_ENST00000535773.1_Missense_Mutation_p.C155F NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 312 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GTCCCGAGGGCACCACTGCAC 0.507000 5 94 0.000602214 0.000746334 0.000602 1 0 CARD11 84433 broad.mit.edu 37 7 2978386 2978386 + Missense_Mutation SNP T T C TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr7:2978386T>C ENST00000396946.4 - 7 1347 c.944A>G c.(943-945)gAc>gGc p.D315G NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 315 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTCCTGCCTGTCCTCCAGGGC 0.657000 Mis DLBCL 17 29 0 0 0.004007 0 0 RANBP10 57610 broad.mit.edu 37 16 67763673 67763673 + Missense_Mutation SNP A A T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr16:67763673A>T ENST00000317506.3 - 9 1172 c.1057T>A c.(1057-1059)Tcc>Acc p.S353T RANBP10_ENST00000536251.1_Missense_Mutation_p.S124T|RANBP10_ENST00000602677.1_Missense_Mutation_p.S353T|RANBP10_ENST00000448631.2_Missense_Mutation_p.S297T|RANBP10_ENST00000411657.2_Missense_Mutation_p.S236T NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 353 Ser-rich. endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) GGGCTTCGGGAGCTCAAACTT 0.602000 13 113 0 0 0.013537 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720582 140720582 + Missense_Mutation SNP G G A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr5:140720582G>A ENST00000394576.2 + 1 2044 c.2044G>A c.(2044-2046)Gcc>Acc p.A682T PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAGCCCTCCGCCATACCCAA 0.682000 45 91 0 0 0.014410 0 0 MGAT1 4245 broad.mit.edu 37 5 180219549 180219549 + Missense_Mutation SNP C C A rs150335707 TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr5:180219549C>A ENST00000446023.2 - 3 1173 c.423G>T c.(421-423)caG>caT p.Q141H MGAT1_ENST00000427865.2_Missense_Mutation_p.Q141H|MGAT1_ENST00000393340.3_Missense_Mutation_p.Q141H|MGAT1_ENST00000307826.4_Missense_Mutation_p.Q141H|MGAT1_ENST00000333055.3_Missense_Mutation_p.Q141H NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 141 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCCGCAGTCCTGGCTAACGA 0.672000 19 30 5.35267e-07 7.68452e-07 0.007413 1 0 RASGEF1A 221002 broad.mit.edu 37 10 43695680 43695680 + Missense_Mutation SNP C C G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr10:43695680C>G ENST00000395809.1 - 6 3212 c.706G>C c.(706-708)Gag>Cag p.E236Q RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.E244Q|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.E236Q Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 236 Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 ATCAAGTCCTCAGGGTAAATG 0.587000 3 10 0 0 0.009096 0 0 RNF10 9921 broad.mit.edu 37 12 121001343 121001343 + Missense_Mutation SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr12:121001343G>T ENST00000325954.4 + 9 1909 c.1448G>T c.(1447-1449)tGc>tTc p.C483F RNF10_ENST00000413266.2_Missense_Mutation_p.C488F NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 483 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) GGGACCATTTGCACTGAGTCC 0.532000 16 40 2.48551e-13 3.91737e-13 0.004990 1 0 PIWIL3 440822 broad.mit.edu 37 22 25124271 25124271 + Missense_Mutation SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr22:25124271C>A ENST00000332271.5 - 15 2221 c.1805G>T c.(1804-1806)tGc>tTc p.C602F PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.C484F|PIWIL3_ENST00000527701.1_Missense_Mutation_p.C484F NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 602 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TGGAATTGGGCATTTGGTACA 0.428000 13 139 1.5842e-08 2.3928e-08 0.001855 1 0 LRRC7 57554 broad.mit.edu 37 1 70478699 70478699 + Missense_Mutation SNP A A G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr1:70478699A>G ENST00000310961.5 + 14 1496 c.1078A>G c.(1078-1080)Aac>Gac p.N360D LRRC7_ENST00000035383.5_Missense_Mutation_p.N355D|LRRC7_ENST00000415775.2_5'UTR Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 355 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TCTACGCTCCAACAAATTAGA 0.323000 37 95 0 0 0.007835 0 0 CSMD3 114788 broad.mit.edu 37 8 113237073 113237073 + Missense_Mutation SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr8:113237073G>T ENST00000297405.5 - 71 11295 c.11051C>A c.(11050-11052)aCc>aAc p.T3684N CSMD3_ENST00000455883.2_Missense_Mutation_p.T3515N|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3614N|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3644N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3684 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTTTGCGTTGGTGTCATACAT 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 155 1.30897e-18 2.13259e-18 0.009535 1 0 USH1G 124590 broad.mit.edu 37 17 72916416 72916416 + Missense_Mutation SNP C C G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr17:72916416C>G ENST00000319642.1 - 2 697 c.515G>C c.(514-516)cGt>cCt p.R172P NM_001282489.1|NM_173477.2 NP_001269418.1|NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 172 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) GGTGTCGGAACGCTCGGCCAG 0.711000 19 42 0 0 0.007413 0 0 DIXDC1 85458 broad.mit.edu 37 11 111844896 111844896 + Missense_Mutation SNP G G T rs35148806 TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr11:111844896G>T ENST00000440460.2 + 4 763 c.466G>T c.(466-468)Gcc>Tcc p.A156S DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Missense_Mutation_p.A156S|DIXDC1_ENST00000529225.1_Missense_Mutation_p.A155S NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 156 Actin-binding. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) CACTGCTGTTGCCCAGGGAGC 0.567000 15 34 2.31682e-05 3.11055e-05 0.003163 1 0 KIAA0100 9703 broad.mit.edu 37 17 26969332 26969332 + Silent SNP T T C TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr17:26969332T>C ENST00000528896.2 - 6 611 c.537A>G c.(535-537)ttA>ttG p.L179L KIAA0100_ENST00000389003.3_Silent_p.L36L|KIAA0100_ENST00000544884.1_Silent_p.L36L NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 179 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) TGATCTTACATAAGCTCACCT 0.498000 12 20 0 0 0.013537 0 0 CDH2 1000 broad.mit.edu 37 18 25573552 25573552 + Missense_Mutation SNP T T C TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr18:25573552T>C ENST00000269141.3 - 8 1493 c.1070A>G c.(1069-1071)aAt>aGt p.N357S CDH2_ENST00000399380.3_Missense_Mutation_p.N326S NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 357 Cadherin 2. N -> I (in Ref. 1; CAA38213). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ATATGTGGGATTGCCTTCCAT 0.408000 30 159 0 0 0.008361 0 0 CD101 9398 broad.mit.edu 37 1 117552557 117552557 + Nonsense_Mutation SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr1:117552557C>A ENST00000256652.4 + 2 187 c.129C>A c.(127-129)tgC>tgA p.C43* CD101_ENST00000369470.1_Nonsense_Mutation_p.C43* NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 43 Ig-like C2-type 1. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GCATTGGCTGCAATGTAACTG 0.502000 23 61 8.04996e-18 1.29694e-17 0.012319 1 0 NEUROD1 4760 broad.mit.edu 37 2 182543033 182543033 + Silent SNP C C T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr2:182543033C>T ENST00000295108.3 - 2 1012 c.555G>A c.(553-555)gcG>gcA p.A185A CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 185 A -> G (in Ref. 2; BAA11558 and 5; BAA87605). amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) GCAGGCAGCCCGCAACCAGGT 0.607000 23 70 0 0 0.012319 0 0 KPNA1 3836 broad.mit.edu 37 3 122186193 122186193 + Missense_Mutation SNP C C G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr3:122186193C>G ENST00000344337.6 - 3 389 c.213G>C c.(211-213)caG>caC p.Q71H NM_002264.3 NP_002255.3 P52294 IMA1_HUMAN karyopherin alpha 1 (importin alpha 5) 71 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) TGTTACTAATCTGAGCCTCAT 0.348000 15 34 0 0 0.003163 0 0 FKBP9 11328 broad.mit.edu 37 7 33028146 33028146 + Silent SNP G G A rs138779515 byFrequency TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr7:33028146G>A ENST00000242209.4 + 6 1090 c.921G>A c.(919-921)acG>acA p.T307T AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Silent_p.T169T|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538336.1_Silent_p.T360T|FKBP9_ENST00000490776.2_Silent_p.T75T NM_001284343.1|NM_007270.3 NP_001271272.1|NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 307 PPIase FKBP-type 3. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) CGTTTGACACGTACATTGGGC 0.502000 35 80 0 0 0.008740 0 0 LOC441666 441666 broad.mit.edu 37 10 42832104 42832104 + RNA SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr10:42832104G>T ENST00000609841.1 - 0 1799 NR_024380.1 TGAATAAGGTGTGAGGAACAG 0.338000 4 8 0.000602214 0.000746334 0.000602 1 0 ANKRD42 338699 broad.mit.edu 37 11 82921405 82921405 + Missense_Mutation SNP C C T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr11:82921405C>T ENST00000393389.3 + 4 1326 c.394C>T c.(394-396)Ctt>Ttt p.L132F ANKRD42_ENST00000531895.1_Missense_Mutation_p.L132F|ANKRD42_ENST00000260047.6_Missense_Mutation_p.L132F|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000533342.1_Missense_Mutation_p.L132F|ANKRD42_ENST00000393392.2_Missense_Mutation_p.L104F|ANKRD42_ENST00000526731.1_Missense_Mutation_p.L132F|ANKRD42_ENST00000528722.1_Missense_Mutation_p.L19F Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 104 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TCCTTTACATCTTGCTGCAAC 0.393000 25 80 0 0 0.003954 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88958024 88958024 + Nonsense_Mutation SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr9:88958024G>T ENST00000375961.2 - 6 1266 c.1052C>A c.(1051-1053)tCg>tAg p.S351* ZCCHC6_ENST00000375948.1_5'UTR|ZCCHC6_ENST00000375960.2_Nonsense_Mutation_p.S351*|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Nonsense_Mutation_p.S351* Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 351 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding p.S351L(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 GTTTACATCCGAATTTTTGAA 0.303000 33 70 2.80507e-11 4.3735e-11 0.012213 1 0 AFF3 3899 broad.mit.edu 37 2 100210166 100210166 + Missense_Mutation SNP G G A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr2:100210166G>A ENST00000409236.2 - 13 2069 c.1957C>T c.(1957-1959)Cgg>Tgg p.R653W AFF3_ENST00000356421.2_Missense_Mutation_p.R678W|AFF3_ENST00000317233.4_Missense_Mutation_p.R653W|AFF3_ENST00000409579.1_Missense_Mutation_p.R678W P51826 AFF3_HUMAN AF4/FMR2 family, member 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 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 CTTAGCCCCCGCGTGCGGCGC 0.632000 17 86 0 0 0.004990 0 0 TP53 7157 broad.mit.edu 37 17 7578239 7578239 + Nonsense_Mutation SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr17:7578239C>A ENST00000420246.2 - 6 742 c.610G>T c.(610-612)Gag>Tag p.E204* TP53_ENST00000359597.4_Nonsense_Mutation_p.E204*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E204*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E204*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E204*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E204* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 204 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCCAAATACTCCACACGCAAA 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 27 6.31663e-08 9.44238e-08 0.003163 1 0 EIF4G3 8672 broad.mit.edu 37 1 21177871 21177871 + Missense_Mutation SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr1:21177871C>A ENST00000602326.1 - 26 4085 c.3502G>T c.(3502-3504)Gac>Tac p.D1168Y EIF4G3_ENST00000536266.1_Missense_Mutation_p.D766Y|EIF4G3_ENST00000537738.1_Missense_Mutation_p.D652Y|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D1168Y|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D1162Y|EIF4G3_ENST00000264211.8_Missense_Mutation_p.D1162Y|EIF4G3_ENST00000374935.3_Missense_Mutation_p.D882Y NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1162 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GACTGATTGTCTAGCAGGTCT 0.542000 16 98 3.45872e-05 4.60105e-05 0.004007 1 0 TPTE2P6 374491 broad.mit.edu 37 13 25168463 25168463 + RNA SNP T T C rs61946940 TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr13:25168463T>C ENST00000453498.1 + 0 1135 TPTE2P6_ENST00000440905.1_RNA TGACAGTCCATCTCTGTACGA 0.363000 3 19 0 0 0.009096 0 0 DLEU7 220107 broad.mit.edu 37 13 51417483 51417483 + Silent SNP C C T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr13:51417483C>T ENST00000400393.3 - 1 592 c.300G>A c.(298-300)ttG>ttA p.L100L DLEU7_ENST00000504404.1_Silent_p.L100L|DLEU7-AS1_ENST00000413510.2_RNA NM_198989.2 NP_945340.2 Q6UYE1 LEU7_HUMAN deleted in lymphocytic leukemia, 7 100 Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.25e-08) GGAAGGGCAGCAACTCGGCGC 0.761000 4 1 0 0 0.009096 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88952370 88952370 + Silent SNP C C T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr9:88952370C>T ENST00000375961.2 - 10 1633 c.1419G>A c.(1417-1419)agG>agA p.R473R ZCCHC6_ENST00000375948.1_Silent_p.R111R|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Silent_p.R473R Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 473 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 GGGGTTCTTTCCTCTGCTGAA 0.373000 18 34 0 0 0.004990 0 0 LAMA3 3909 broad.mit.edu 37 18 21364074 21364074 + Missense_Mutation SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr18:21364074G>T ENST00000313654.9 + 12 1797 c.1556G>T c.(1555-1557)cGa>cTa p.R519L LAMA3_ENST00000399516.3_Missense_Mutation_p.R519L NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 519 Domain V.|Laminin EGF-like 4. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGGGCCCTCGATGTGATACC 0.502000 7 182 0.000157383 0.000200181 0.003080 1 0 WDR27 253769 broad.mit.edu 37 6 170068173 170068173 + Missense_Mutation SNP C C T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr6:170068173C>T ENST00000333572.6 - 5 1084 c.565G>A c.(565-567)Gag>Aag p.E189K WDR27_ENST00000448612.1_Missense_Mutation_p.E189K|WDR27_ENST00000420344.2_Intron|WDR27_ENST00000423258.1_Intron A2RRH5 WDR27_HUMAN WD repeat domain 27 159 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CCCTGCAGCTCGGCCCGAACA 0.582000 4 58 0 0 0.000602 0 0 MALAT1 378938 broad.mit.edu 37 11 65266270 65266270 + RNA SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr11:65266270G>T ENST00000534336.1 + 0 1038 NR_002819.2 TGATTTCCATGTTTCTTTTGT 0.368000 25 147 2.44723e-14 3.89943e-14 0.004656 1 0 TYW1 55253 broad.mit.edu 37 7 66463885 66463885 + Missense_Mutation SNP G G A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr7:66463885G>A ENST00000359626.5 + 3 381 c.217G>A c.(217-219)Gac>Aac p.D73N NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 73 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity p.D73N(1) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) TCAAGAGAAAGACATCTTTGT 0.368000 14 65 0 0 0.001855 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 3 35 0 0 0.004672 0 0 MUC16 94025 broad.mit.edu 37 19 9065495 9065495 + Silent SNP G G A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr19:9065495G>A ENST00000397910.4 - 3 22154 c.21951C>T c.(21949-21951)atC>atT p.I7317I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7319 Ser-rich.|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 ATTCTGCCAGGATGGGGGAAG 0.458000 15 62 0 0 0.003163 0 0 FNDC1 84624 broad.mit.edu 37 6 159682221 159682221 + Splice_Site SNP G G C TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr6:159682221G>C ENST00000297267.9 + 19 5374 c.e19-1 FNDC1_ENST00000340366.6_Splice_Site NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TCCAACTTCAGGTATTATTTT 0.398000 18 55 0 0 0.006122 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162338 90162338 + RNA SNP T T C TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr16:90162338T>C ENST00000564451.1 + 0 1691 TUBB8P7_ENST00000567960.1_RNA GACATCCCACTCCGGGGGCTA 0.483000 3 151 0 0 0.009096 0 0 EGLN2 112398 broad.mit.edu 37 19 41307012 41307012 + Missense_Mutation SNP C C G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr19:41307012C>G ENST00000593726.1 + 1 1563 c.535C>G c.(535-537)Ctg>Gtg p.L179V EGLN2_ENST00000406058.2_Missense_Mutation_p.L179V|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Missense_Mutation_p.L179V Q96KS0 EGLN2_HUMAN egl-9 family hypoxia-inducible factor 2 179 cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia cytoplasm|nucleus ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Vitamin C(DB00126) GCGCCTGGCCCTGGACTATAT 0.687000 20 101 0 0 0.008871 0 0 KTI12 112970 broad.mit.edu 37 1 52499109 52499109 + Missense_Mutation SNP G G A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr1:52499109G>A ENST00000371614.1 - 1 379 c.325C>T c.(325-327)Cgg>Tgg p.R109W RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron NM_138417.2 NP_612426.1 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated (S. cerevisiae) 109 ATP binding central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1) 12 CCGCCGGGCCGTACGCAGTAG 0.672000 4 72 0 0 0.009096 0 0 HEATR4 399671 broad.mit.edu 37 14 73989224 73989224 + Missense_Mutation SNP G G C TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr14:73989224G>C ENST00000553558.1 - 3 954 c.633C>G c.(631-633)aaC>aaG p.N211K HEATR4_ENST00000334988.2_Missense_Mutation_p.N211K|HEATR4_ENST00000560393.1_Missense_Mutation_p.N164K NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) CTGTGCGCTCGTTCAGCTTTT 0.602000 10 34 0 0 0.008291 0 0 FRG1B 284802 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 3 66 0 0 0.001984 0 0 PRODH 5625 broad.mit.edu 37 22 18910367 18910367 + Missense_Mutation SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr22:18910367G>T ENST00000357068.6 - 6 1077 c.812C>A c.(811-813)gCt>gAt p.A271D PRODH_ENST00000334029.2_Missense_Mutation_p.A163D|PRODH_ENST00000420436.1_Missense_Mutation_p.A163D NM_016335.4 NP_057419 O43272 PROD_HUMAN proline dehydrogenase (oxidase) 1 271 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1) 9 L-Proline(DB00172) GTCCATGGCAGCCAGGCCCGC 0.642000 8 85 0.000157383 0.000200181 0.003080 1 0 AMDHD2 51005 broad.mit.edu 37 16 2570887 2570887 + Silent SNP C C T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr16:2570887C>T ENST00000302956.4 + 2 295 c.201C>T c.(199-201)ttC>ttT p.F67F ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_Silent_p.F67F|AMDHD2_ENST00000293971.6_Silent_p.F67F Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 67 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 CTCCCGGATTCATCGACGTGC 0.672000 23 62 0 0 0.002780 0 0 LIMS1 3987 broad.mit.edu 37 2 109271542 109271542 + Silent SNP A A G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr2:109271542A>G ENST00000542845.1 + 1 50 c.12A>G c.(10-12)tcA>tcG p.S4S LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000544547.1_Intron|LIMS1_ENST00000332345.6_Intron|LIMS1_ENST00000338045.3_5'UTR|LIMS1_ENST00000393310.1_Intron|LIMS1_ENST00000409441.1_Intron|LIMS1_ENST00000393314.2_Silent_p.S4S|LIMS1_ENST00000410093.1_Intron P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 0 cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 10 TGGCCTTCTCAGGCCGAGCGC 0.602000 3 51 0 0 0.000602 0 0 EP300 2033 broad.mit.edu 37 22 41574469 41574469 + Nonsense_Mutation SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr22:41574469G>T ENST00000263253.7 + 31 7973 c.6754G>T c.(6754-6756)Gag>Tag p.E2252* RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 2252 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CTTGGGAGCAGAGGCAGGTGC 0.582000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 36 35 3.03874e-20 5.00701e-20 0.003271 1 0 MAT1A 4143 broad.mit.edu 37 10 82033565 82033565 + Missense_Mutation SNP C C G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr10:82033565C>G ENST00000372213.3 - 9 1420 c.1160G>C c.(1159-1161)tGg>tCg p.W387S MAT1A_ENST00000485270.1_5'UTR NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 387 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GGGAACCTCCCATGGGAACTC 0.577000 50 145 0 0 0.014410 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85517961 85517961 + Missense_Mutation SNP A A G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr12:85517961A>G ENST00000393217.2 + 17 3732 c.3671A>G c.(3670-3672)aAg>aGg p.K1224R NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1224 p.K1224T(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) ACTATCACCAAGAAAGATGAA 0.408000 22 58 0 0 0.012319 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31655068 31655068 + Missense_Mutation SNP G G C TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr21:31655068G>C ENST00000340345.4 - 1 208 c.183C>G c.(181-183)tgC>tgG p.C61W NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 61 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 AGGATTCTTGGCAGTAATCCA 0.512000 23 48 0 0 0.002780 0 0 PON3 5446 broad.mit.edu 37 7 94992134 94992134 + Missense_Mutation SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr7:94992134C>A ENST00000265627.5 - 7 725 c.715G>T c.(715-717)Gta>Tta p.V239L PON3_ENST00000451904.1_Missense_Mutation_p.V239L|PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Intron NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TTAGCTGCTACATCAGCTACA 0.368000 10 49 3.07112e-06 4.32342e-06 0.010729 1 0 SCAND3 114821 broad.mit.edu 37 6 28540209 28540209 + Missense_Mutation SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr6:28540209C>A ENST00000452236.2 - 4 4074 c.3457G>T c.(3457-3459)Gac>Tac p.D1153Y NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1153 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 tgaaacatgtcataacaatct 0.308000 8 52 5.18039e-06 7.02016e-06 0.003080 1 0 PDZD2 23037 broad.mit.edu 37 5 32048767 32048767 + Silent SNP C C T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr5:32048767C>T ENST00000438447.1 + 8 2030 c.1642C>T c.(1642-1644)Ctg>Ttg p.L548L PDZD2_ENST00000282493.3_Silent_p.L548L O15018 PDZD2_HUMAN PDZ domain containing 2 548 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCCGCAGCTGCTGGACTCTTC 0.552000 13 84 0 0 0.002450 0 0 CYP2C18 1562 broad.mit.edu 37 10 96484121 96484121 + Missense_Mutation SNP T T C TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr10:96484121T>C ENST00000285979.6 + 7 1179 c.980T>C c.(979-981)aTt>aCt p.I327T CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.I268T NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) CAGGAAGAGATTGAATGTGTA 0.443000 23 127 0 0 0.012319 0 0 TRIM65 201292 broad.mit.edu 37 17 73887167 73887167 + Missense_Mutation SNP A A G rs141383528 byFrequency TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr17:73887167A>G ENST00000269383.3 - 6 1312 c.1247T>C c.(1246-1248)aTt>aCt p.I416T NM_001256124.1|NM_173547.3 NP_001243053.1|NP_775818.2 Q6PJ69 TRI65_HUMAN tripartite motif containing 65 416 B30.2/SPRY. 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) TCCCCGGCCAATGTTGTCTGT 0.697000 4 33 0 0 0.009096 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 34 0 0 0.004672 0 0 PKHD1 5314 broad.mit.edu 37 6 51923138 51923138 + Silent SNP T T G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr6:51923138T>G ENST00000371117.3 - 16 1770 c.1495A>C c.(1495-1497)Agg>Cgg p.R499R PKHD1_ENST00000340994.4_Silent_p.R499R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 499 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TCTGGAAGCCTCTGGGCTCGG 0.537000 14 83 0 0 0.003163 0 0 IKZF2 22807 broad.mit.edu 37 2 213872378 213872378 + Missense_Mutation SNP C C G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr2:213872378C>G ENST00000457361.1 - 8 1455 c.1287G>C c.(1285-1287)aaG>aaC p.K429N IKZF2_ENST00000421754.2_Missense_Mutation_p.K355N|IKZF2_ENST00000374327.4_Missense_Mutation_p.K284N|IKZF2_ENST00000434687.1_Missense_Mutation_p.K429N|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374319.4_Missense_Mutation_p.K403N|IKZF2_ENST00000342002.2_Missense_Mutation_p.K435N|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.K357N NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TTTGTTTCCTCTTGGGATTTA 0.502000 35 177 0 0 0.003271 0 0 ZNF831 128611 broad.mit.edu 37 20 57828995 57828995 + Missense_Mutation SNP C C T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr20:57828995C>T ENST00000371030.2 + 5 4231 c.4231C>T c.(4231-4233)Cac>Tac p.H1411Y NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1411 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CTGTACTACTCACAGCACTGC 0.488000 22 87 0 0 0.012319 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 3 21 0 0 0.004672 0 0 KMT2C 58508 broad.mit.edu 37 7 151932973 151932973 + Nonsense_Mutation SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr7:151932973C>A ENST00000355193.2 - 16 2916 c.2698G>T c.(2698-2700)Gga>Tga p.G900* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.G900* lysine (K)-specific methyltransferase 2C CCCGACAGTCCTGCACCTCGA 0.488000 13 73 4.3838e-07 6.42072e-07 0.001855 1 0 LOC647323 647323 broad.mit.edu 37 3 193711613 193711613 + RNA SNP T T C TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr3:193711613T>C ENST00000397645.2 - 0 75 RP11-699L21.2_ENST00000426616.1_lincRNA NR_033944.1 TTCAGGCGTATCTTGCTGTTG 0.458000 9 17 0 0 0.004482 0 0 IKZF2 22807 broad.mit.edu 37 2 213872176 213872176 + Missense_Mutation SNP C C T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr2:213872176C>T ENST00000457361.1 - 8 1657 c.1489G>A c.(1489-1491)Gac>Aac p.D497N IKZF2_ENST00000421754.2_Missense_Mutation_p.D423N|IKZF2_ENST00000374327.4_Missense_Mutation_p.D352N|IKZF2_ENST00000434687.1_Missense_Mutation_p.D497N|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374319.4_Missense_Mutation_p.D471N|IKZF2_ENST00000342002.2_Missense_Mutation_p.D503N|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.D425N NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 497 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TCCAGTGGGTCCCGGTAGCCA 0.502000 15 92 0 0 0.003163 0 0 BOD1L1 259282 broad.mit.edu 37 4 13602068 13602068 + Silent SNP G G A rs139854434 by1000genomes TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr4:13602068G>A ENST00000040738.5 - 10 6591 c.6456C>T c.(6454-6456)ttC>ttT p.F2152F NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2152 DNA binding p.F2152F(1) TAGGCAATTCGAATTCTTCCC 0.493000 10 56 0 0 0.006214 0 0 TNN 63923 broad.mit.edu 37 1 175097790 175097790 + Missense_Mutation SNP G G A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr1:175097790G>A ENST00000239462.4 + 15 3351 c.3238G>A c.(3238-3240)Gcc>Acc p.A1080T NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1080 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAGCAATGCCGCCAGTGGTCT 0.577000 7 88 0 0 0.001984 0 0 DDR1 780 broad.mit.edu 37 6 30865139 30865139 + Splice_Site SNP T T A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr6:30865139T>A ENST00000376575.3 + 17 2332 c.1999T>A c.(1999-2001)Ttc>Atc p.F667I DDR1_ENST00000513240.1_Splice_Site_p.F667I|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000376567.2_Intron|DDR1_ENST00000376570.4_Intron|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000452441.1_Intron|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000324771.8_Intron|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000376568.3_Intron Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 665 Protein kinase. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) CCTCTTCAGCTTCTCCTTGTT 0.617000 4 29 0 0 0.009096 0 0 SNX33 257364 broad.mit.edu 37 15 75949429 75949429 + Missense_Mutation SNP A A G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr15:75949429A>G ENST00000308527.5 + 2 2795 c.1598A>G c.(1597-1599)cAc>cGc p.H533R NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 533 BAR. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 GAGATGAACCACTTCCACCAG 0.627000 28 33 0 0 0.006320 0 0 TMEM174 134288 broad.mit.edu 37 5 72469403 72469403 + Silent SNP G G A rs148188850 TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr5:72469403G>A ENST00000296776.5 + 1 382 c.333G>A c.(331-333)tcG>tcA p.S111S TMEM174_ENST00000511737.1_3'UTR NM_153217.2 NP_694949.1 Q8WUU8 TM174_HUMAN transmembrane protein 174 111 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) TCCCGGACTCGGAACAGACAC 0.512000 39 72 0 0 0.006999 0 0 SYTL4 94121 broad.mit.edu 37 X 99934317 99934317 + Missense_Mutation SNP C C G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chrX:99934317C>G ENST00000455616.1 - 16 1997 c.1651G>C c.(1651-1653)Gtc>Ctc p.V551L SYTL4_ENST00000372989.1_Missense_Mutation_p.V551L|SYTL4_ENST00000454200.2_Missense_Mutation_p.V553L|SYTL4_ENST00000276141.6_Missense_Mutation_p.V551L|SYTL4_ENST00000263033.5_Missense_Mutation_p.V551L Q96C24 SYTL4_HUMAN synaptotagmin-like 4 551 C2 2. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CACCCCTTGACAAAGCTGTCT 0.483000 12 23 0 0 0.003163 0 0 CNTLN 54875 broad.mit.edu 37 9 17395000 17395000 + Missense_Mutation SNP A A G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr9:17395000A>G ENST00000380647.3 + 15 2632 c.2548A>G c.(2548-2550)Atc>Gtc p.I850V CNTLN_ENST00000425824.1_Missense_Mutation_p.I850V|CNTLN_ENST00000262360.5_Missense_Mutation_p.I850V Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 850 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) CAATCATTCCATCAAGGTTAT 0.443000 13 49 0 0 0.003163 0 0 ZNF44 51710 broad.mit.edu 37 19 12358887 12358887 + Silent SNP T T G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr19:12358887T>G ENST00000426973.1 - 4 827 c.828A>C c.(826-828)gtA>gtC p.V276V P15621 ZNF44_HUMAN zinc finger protein 44 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) CTTGAAAACCTACAGAAGATA 0.388000 2 7 0 0 0.004672 0 0 TDO2 6999 broad.mit.edu 37 4 156837048 156837048 + Missense_Mutation SNP A A C TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr4:156837048A>C ENST00000536354.2 + 9 944 c.880A>C c.(880-882)Atg>Ctg p.M294L NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 294 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) GGGAGCATTGATGATATATTT 0.323000 4 25 0 0 0.009096 0 0 MPDZ 8777 broad.mit.edu 37 9 13168547 13168547 + Silent SNP A A G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr9:13168547A>G ENST00000319217.7 - 22 3319 c.3072T>C c.(3070-3072)gcT>gcC p.A1024A MPDZ_ENST00000381022.2_Silent_p.A1024A|MPDZ_ENST00000546205.1_Silent_p.A1024A|MPDZ_ENST00000541718.1_Silent_p.A1024A|MPDZ_ENST00000536827.1_Silent_p.A1024A|MPDZ_ENST00000381015.4_Silent_p.A1024A|MPDZ_ENST00000447879.1_Silent_p.A1024A NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1024 PDZ 6. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CATCTTTATTAGCACTAACTG 0.343000 4 201 0 0 0.009096 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617354 111617354 + Missense_Mutation SNP C C A TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr9:111617354C>A ENST00000374667.3 - 1 1885 c.857G>T c.(856-858)gGc>gTc p.G286V NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 286 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GATGAGTTTGCCGTCCGGGAG 0.647000 12 71 6.40141e-05 8.43822e-05 0.010729 1 0 TMEM200A 114801 broad.mit.edu 37 6 130762473 130762473 + Missense_Mutation SNP G G T TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr6:130762473G>T ENST00000392429.1 + 2 3284 c.906G>T c.(904-906)gaG>gaT p.E302D TMEM200A_ENST00000545622.1_Missense_Mutation_p.E302D|TMEM200A_ENST00000296978.3_Missense_Mutation_p.E302D NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 302 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TTATTGATGAGCCCAGTATAG 0.418000 12 67 3.07112e-06 4.32342e-06 0.010729 1 0 IKZF2 22807 broad.mit.edu 37 2 213872657 213872657 + Silent SNP C C G TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr2:213872657C>G ENST00000457361.1 - 8 1176 c.1008G>C c.(1006-1008)ctG>ctC p.L336L IKZF2_ENST00000421754.2_Silent_p.L262L|IKZF2_ENST00000374327.4_Silent_p.L191L|IKZF2_ENST00000434687.1_Silent_p.L336L|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374319.4_Silent_p.L310L|IKZF2_ENST00000342002.2_Silent_p.L342L|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Silent_p.L264L NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 336 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) GGTGCTGCATCAGAGGGTGAA 0.483000 8 63 0 0 0.006214 0 0 RP11-1022B3.1 0 broad.mit.edu 37 12 63704029 63704029 + RNA DEL A A - TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr12:63704029delA ENST00000551729.1 - 0 162 ccagggccccaaaaagtgtgt 0.572 2 4 --- --- --- --- NYNRIN 57523 broad.mit.edu 37 14 24880405 24880411 + Splice_Site DEL GGTGAGA GGTGAGA - TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr14:24880405_24880411delGGTGAGA ENST00000382554.3 + 5 2856_2862 c.2538_2544delGGTGAGA c.(2536-2544)agggtgaga>ag p.RVR846fs NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 846 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AGAACCGGAGGGTGAGAGGTGAGGTGT 0.599 OREG0022626 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 157 --- --- --- --- CDH11 1009 broad.mit.edu 37 16 65016108 65016108 + Frame_Shift_Del DEL C C - TCGA-BT-A20X-01A-11D-A16O-08 TCGA-BT-A20X-11A-12D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b4586ee-4091-484f-8be8-5a5196fe7b6f 29cbef1d-56b7-45cf-8eb4-1c86249942f8 g.chr16:65016108delC ENST00000394156.3 - 8 1549 c.1096delG c.(1096-1098)gacfs p.D366fs CDH11_ENST00000268603.4_Frame_Shift_Del_p.D366fs|CDH11_ENST00000566827.1_Frame_Shift_Del_p.D240fs P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 366 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GTCACAGTGTCCTTGAAAGGG 0.493 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 43 109 --- --- --- ---