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 COQ10A 93058 broad.mit.edu 37 12 56663287 56663287 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:56663287T>C ENST00000308197.5 + 4 779 c.518T>C c.(517-519)aTt>aCt p.I173T COQ10A_ENST00000433805.2_Missense_Mutation_p.I141T|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Missense_Mutation_p.I156T NM_144576.3 NP_653177.3 Q96MF6 CQ10A_HUMAN coenzyme Q10 homolog A (S. cerevisiae) 173 mitochondrial inner membrane cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 8 TTAGAGACTATTTGGCGATTC 0.438000 22 143 0 0 0.000295444 0 0 KCNH7 90134 broad.mit.edu 37 2 163228467 163228467 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:163228467G>T ENST00000332142.5 - 16 3562 c.3463C>A c.(3463-3465)Cac>Aac p.H1155N NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 1155 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TGCCGCAGGTGAAGCTCTAAA 0.428000 8 47 1.12685e-05 6.39257e-05 0.000274275 1 0 GSS 2937 broad.mit.edu 37 20 33524591 33524591 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr20:33524591G>A ENST00000216951.2 - 8 840 c.742C>T c.(742-744)Ctg>Ttg p.L248L GSS_ENST00000541098.1_Silent_p.L120L|GSS_ENST00000451957.2_Silent_p.L137L NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 248 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) TCTTGGTCCAGAGACCCCTTT 0.473000 43 226 0 0 0.000781405 0 0 FGFR4 2264 broad.mit.edu 37 5 176519733 176519733 + Silent SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr5:176519733A>G ENST00000292408.4 + 8 1250 c.1005A>G c.(1003-1005)gcA>gcG p.A335A FGFR4_ENST00000393648.2_Silent_p.A335A|FGFR4_ENST00000393637.1_Silent_p.A335A|FGFR4_ENST00000502906.1_Silent_p.A335A|FGFR4_ENST00000292410.3_Silent_p.A335A NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 335 Ig-like C2-type 3. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CCTGCCTCGCAGGCAATTCCA 0.637000 TSP Lung(9;0.080) 23 31 0 0 0.000720815 0 0 PZP 5858 broad.mit.edu 37 12 9353588 9353588 + Silent SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:9353588G>C ENST00000261336.2 - 6 598 c.570C>G c.(568-570)tcC>tcG p.S190S PZP_ENST00000381997.2_Silent_p.S59S NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 AGAGGGGAAAGGACAACTGAT 0.498000 27 130 0 0 0.00106085 0 0 SYNE2 23224 broad.mit.edu 37 14 64468762 64468762 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr14:64468762A>T ENST00000358025.3 + 29 3979 c.3749A>T c.(3748-3750)cAt>cTt p.H1250L SYNE2_ENST00000554584.1_Missense_Mutation_p.H1250L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.H1250L NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1250 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAGGGATTTCATCTCATTGAT 0.418000 33 81 0 0 0.00178596 0 0 CT47B1 643311 broad.mit.edu 37 X 120008849 120008849 + Nonsense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chrX:120008849T>A ENST00000371311.3 - 1 930 c.676A>T c.(676-678)Aaa>Taa p.K226* NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 226 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 tctgGGGGTTTCTCATCTGCG 0.706000 6 136 0 0 8.12818e-05 0 0 LPPR4 9890 broad.mit.edu 37 1 99772515 99772515 + Silent SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:99772515T>C ENST00000370185.3 + 7 2738 c.2241T>C c.(2239-2241)acT>acC p.T747T LPPR4_ENST00000457765.1_Silent_p.T689T|LPPR4_ENST00000370184.1_Silent_p.T589T NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 747 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCGAAAACACTAGAAATATCT 0.473000 23 55 0 0 0.000375601 0 0 PLCB4 5332 broad.mit.edu 37 20 9364994 9364994 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr20:9364994G>A ENST00000378501.2 + 11 1015 c.1000G>A c.(1000-1002)Ggc>Agc p.G334S PLCB4_ENST00000414679.2_Missense_Mutation_p.G334S|PLCB4_ENST00000378473.3_Missense_Mutation_p.G334S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.G334S|PLCB4_ENST00000334005.3_Missense_Mutation_p.G334S|PLCB4_ENST00000378493.1_Missense_Mutation_p.G334S NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 334 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTATCTCACTGGCAGACAGTT 0.463000 35 71 0 0 0.000692331 0 0 NBAS 51594 broad.mit.edu 37 2 15415923 15415923 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:15415923C>T ENST00000281513.5 - 44 5434 c.5409G>A c.(5407-5409)ctG>ctA p.L1803L NBAS_ENST00000441750.1_Silent_p.L1683L NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1803 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTTCATCTGTCAGCTTTTTGT 0.363000 6 93 0 0 0.00116845 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862909 10862909 + RNA SNP T T G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr21:10862909T>G ENST00000559480.1 + 0 205 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GTGGATGGGATTGGTGTGCCC 0.542000 11 239 0 0 0.000219431 0 0 RRAGD 58528 broad.mit.edu 37 6 90097155 90097155 + Nonsense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:90097155G>T ENST00000369415.4 - 2 579 c.303C>A c.(301-303)tgC>tgA p.C101* RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.2_Intron NM_021244.4 NP_067067.1 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 101 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity p.C101C(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) CATCTTCCCGGCATATCTTAT 0.428000 98 190 5.01286e-43 3.16196e-42 0.000781405 1 0 ICAM2 3384 broad.mit.edu 37 17 62081229 62081229 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr17:62081229G>T ENST00000412356.1 - 5 778 c.424C>A c.(424-426)Ctg>Atg p.L142M ICAM2_ENST00000449662.2_Missense_Mutation_p.L142M|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000418105.1_Missense_Mutation_p.L142M|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.L142M|ICAM2_ENST00000579687.1_Missense_Mutation_p.L142M|ICAM2_ENST00000578892.1_Missense_Mutation_p.L118M|ICAM2_ENST00000578379.1_Missense_Mutation_p.L41M NM_001099786.1 NP_001093256.1 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 142 Ig-like C2-type 2. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 AGGCTGTCCAGGGGCTCCACG 0.607000 7 45 0.000157383 0.000881737 0.000157383 1 0 LRP1B 53353 broad.mit.edu 37 2 141299370 141299370 + Silent SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:141299370A>T ENST00000389484.3 - 44 8336 c.7365T>A c.(7363-7365)gcT>gcA p.A2455A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2455 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATTGGCAACAGCTATGATTC 0.363000 TSP Lung(27;0.18) 9 137 0 0 0.000442599 0 0 ALKBH8 91801 broad.mit.edu 37 11 107431547 107431547 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:107431547C>T ENST00000428149.2 - 2 224 c.73G>A c.(73-75)Gcc>Acc p.A25T ALKBH8_ENST00000429370.1_Missense_Mutation_p.A25T|ALKBH8_ENST00000389568.3_Missense_Mutation_p.A25T|ALKBH8_ENST00000417449.2_Missense_Mutation_p.A28T|ALKBH8_ENST00000530933.1_5'UTR NM_138775.2 NP_620130.2 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 (E. coli) 25 response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide 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|protein binding|RNA binding|tRNA (uracil) methyltransferase activity breast(2)|large_intestine(2)|lung(5) 9 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) GTATGCTTGGCTTTAATCTGT 0.348000 13 29 0 0 0.00185496 0 0 CEACAM18 729767 broad.mit.edu 37 19 51984689 51984689 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr19:51984689T>C ENST00000396477.4 + 3 464 c.443T>C c.(442-444)cTg>cCg p.L148P CEACAM18_ENST00000451626.1_Missense_Mutation_p.L209P NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 209 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GCCAGCTCCCTGGTGGAGAAC 0.507000 27 23 0 0 0.00106085 0 0 XIRP2 129446 broad.mit.edu 37 2 168115072 168115072 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:168115072G>T ENST00000409728.1 + 11 2204 c.2115G>T c.(2113-2115)gaG>gaT p.E705D XIRP2_ENST00000409605.1_Missense_Mutation_p.E450D|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.E672D|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.E672D|XIRP2_ENST00000420519.1_Missense_Mutation_p.E705D|XIRP2_ENST00000295237.9_3'UTR NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTGAAAAGGAGAAAAATGAAA 0.348000 5 24 1.23904e-05 6.98509e-05 0.000602214 1 0 SACS 26278 broad.mit.edu 37 13 23910945 23910945 + Missense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:23910945T>A ENST00000382298.3 - 10 7658 c.7070A>T c.(7069-7071)gAa>gTa p.E2357V SACS_ENST00000402364.1_Missense_Mutation_p.E1607V|SACS_ENST00000382292.3_Missense_Mutation_p.E2357V NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2357 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AGAAACCTTTTCTGAGTCAAC 0.333000 25 50 0 0 0.000720815 0 0 C3AR1 719 broad.mit.edu 37 12 8211391 8211391 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:8211391C>T ENST00000307637.4 - 2 1594 c.1391G>A c.(1390-1392)cGt>cAt p.R464H NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 464 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) GTGGGTGGAACGTGTGAGCTC 0.473000 34 91 0 0 0.00058488 0 0 LRRC28 123355 broad.mit.edu 37 15 99901641 99901641 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr15:99901641G>A ENST00000301981.3 + 8 1036 c.796G>A c.(796-798)Gag>Aag p.E266K LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.E197K|LRRC28_ENST00000447360.2_Missense_Mutation_p.E266K|LRRC28_ENST00000558879.1_Intron NM_144598.2 NP_653199.2 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 266 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) CATAGGGACGGAGCATGATCA 0.522000 OREG0023509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 63 0 0 0.000781405 0 0 ASMT 438 broad.mit.edu 37 X 1752052 1752052 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chrX:1752052G>C ENST00000381241.3 + 7 855 c.656G>C c.(655-657)gGa>gCa p.G219A ASMT_ENST00000381229.4_Missense_Mutation_p.G191A|ASMT_ENST00000381233.3_Intron|RP13-297E16.3_ENST00000509780.1_RNA NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 191 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGTGGGGCTGGAGCTCTGGCT 0.537000 39 172 0 0 0.00148497 0 0 ZNF479 90827 broad.mit.edu 37 7 57188238 57188238 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:57188238C>G ENST00000331162.4 - 5 1154 c.884G>C c.(883-885)aGa>aCa p.R295T NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R295I(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTTGTAGGGTCTCTCTCCAGT 0.473000 6 70 0 0 0.000274275 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834842 27834842 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:27834842G>C ENST00000331442.3 - 1 517 c.466C>G c.(466-468)Ccg>Gcg p.P156A NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 156 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 GCCTTCTTCGGAGTCTTCTTC 0.602000 5 231 0 0 0.00116845 0 0 CACNA1B 774 broad.mit.edu 37 9 140911625 140911625 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr9:140911625A>T ENST00000277550.3 + 3 175 c.175A>T c.(175-177)Agc>Tgc p.S59C CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371372.1_Intron Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 766 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGTATCTCGCAGCTCATCTGT 0.473000 13 29 0 0 0.00136819 0 0 SPIDR 23514 broad.mit.edu 37 8 48614380 48614380 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:48614380A>G ENST00000297423.4 + 13 2255 c.1871A>G c.(1870-1872)aAg>aGg p.K624R SPIDR_ENST00000517693.1_Missense_Mutation_p.K99R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.K564R|SPIDR_ENST00000541342.1_Missense_Mutation_p.K554R NM_001080394.2 NP_001073863.1 scaffolding protein involved in DNA repair CCCATTTATAAGCTTTACCAG 0.428000 91 170 0 0 0.000781405 0 0 NDN 4692 broad.mit.edu 37 15 23931584 23931584 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr15:23931584A>G ENST00000331837.4 - 1 866 c.781T>C c.(781-783)Ttt>Ctt p.F261L NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 261 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GAGCCCCAAAAGAACTCGTAT 0.572000 Prader-Willi syndrome 5 56 0 0 8.12818e-05 0 0 RIMBP2 23504 broad.mit.edu 37 12 130921489 130921489 + Silent SNP T T G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:130921489T>G ENST00000261655.4 - 10 2116 c.1953A>C c.(1951-1953)tcA>tcC p.S651S RIMBP2_ENST00000535703.1_Silent_p.S559S|RIMBP2_ENST00000536002.1_Silent_p.S559S NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 651 Pro-rich. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGCGGCTGGGTGAGGGCGACC 0.726000 6 18 0 0 0.000274275 0 0 OLFM4 10562 broad.mit.edu 37 13 53608558 53608558 + Missense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:53608558T>A ENST00000219022.2 + 2 358 c.280T>A c.(280-282)Ttt>Att p.F94I NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 94 cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) AGACACCACCTTTCCCGTGGA 0.443000 10 84 0 0 0.000673444 0 0 BEND5 79656 broad.mit.edu 37 1 49202034 49202034 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:49202034C>T ENST00000371833.3 - 5 1071 c.985G>A c.(985-987)Gca>Aca p.A329T AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 329 BEN. large_intestine(5)|lung(2)|skin(1) 8 ATCATAACTGCCAAGTTCTTC 0.483000 30 144 0 0 0.000491102 0 0 HERC2P3 283755 broad.mit.edu 37 15 20649492 20649492 + RNA SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr15:20649492C>G ENST00000428453.1 - 0 2706 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GAGTCGTCCTCTGTGTCCGAA 0.562000 38 137 0 0 0.000781405 0 0 FAM47B 170062 broad.mit.edu 37 X 34961338 34961338 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chrX:34961338C>T ENST00000329357.5 + 1 426 c.390C>T c.(388-390)ccC>ccT p.P130P NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 130 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCAAGCATCCCTTGGCCATGT 0.557000 40 22 0 0 0.00148497 0 0 COL4A5 1287 broad.mit.edu 37 X 107924156 107924156 + Nonsense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chrX:107924156G>T ENST00000328300.6 + 46 4301 c.4057G>T c.(4057-4059)Gag>Tag p.E1353* COL4A5_ENST00000361603.2_Nonsense_Mutation_p.E1347* NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1347 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AGCTGGCCCTGAGGGGGAACC 0.448000 Alport syndrome with Diffuse Leiomyomatosis 51 25 1.86277e-20 1.15877e-19 0.000781405 1 0 NPC1L1 29881 broad.mit.edu 37 7 44556434 44556434 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:44556434G>A ENST00000289547.4 - 17 3523 c.3468C>T c.(3466-3468)ctC>ctT p.L1156L NPC1L1_ENST00000381160.3_Silent_p.L1129L|NPC1L1_ENST00000546276.1_Silent_p.L1083L NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1156 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GGCCCAGCAGGAGGCAGGAGA 0.592000 14 42 0 0 0.000308642 0 0 PRB4 5545 broad.mit.edu 37 12 11461798 11461798 + Missense_Mutation SNP C C T rs77336955 TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:11461798C>T ENST00000279575.1 - 3 152 c.119G>A c.(118-120)cGc>cAc p.R40H PRB4_ENST00000445719.2_Missense_Mutation_p.R40H|PRB4_ENST00000535904.1_Missense_Mutation_p.R40H NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 40 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region p.R40P(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 TCCTTGTGGGCGTCGTCCTTC 0.552000 HNSCC(22;0.051) 33 444 0 0 0.000953801 0 0 POM121 9883 broad.mit.edu 37 7 72413634 72413634 + Silent SNP G G A rs139238552 byFrequency TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:72413634G>A ENST00000395270.1 + 14 3348 c.2307G>A c.(2305-2307)acG>acA p.T769T POM121_ENST00000257622.4_Silent_p.T769T|POM121_ENST00000434423.2_Silent_p.T1034T|POM121_ENST00000358357.3_Silent_p.T769T|POM121_ENST00000446813.1_Silent_p.T769T NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1034 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) GCGGTGCCACGCACTCGGCGT 0.652000 18 154 0 0 0.000295444 0 0 EEF1D 1936 broad.mit.edu 37 8 144671365 144671365 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:144671365C>T ENST00000532741.1 - 1 1265 c.1037G>A c.(1036-1038)gGg>gAg p.G346E EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.G296E|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.G296E P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GGGGGCCTCCCCATCGGCCCG 0.716000 4 18 0 0 0.00024832 0 0 CYFIP2 26999 broad.mit.edu 37 5 156741393 156741393 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr5:156741393G>A ENST00000347377.6 + 12 1583 c.1152G>A c.(1150-1152)gaG>gaA p.E384E CYFIP2_ENST00000435847.2_Silent_p.E58E|CYFIP2_ENST00000377576.3_Silent_p.E384E|CYFIP2_ENST00000318218.6_Silent_p.E384E|CYFIP2_ENST00000541131.1_Silent_p.E309E|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Silent_p.E188E|CYFIP2_ENST00000521420.1_Silent_p.E358E NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 384 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGTCAGACGAGGAGTATCGCG 0.567000 22 35 0 0 0.00047179 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26205025 26205025 + Silent SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:26205025C>A ENST00000360441.4 + 1 168 c.153C>A c.(151-153)atC>atA p.I51I NM_003545.3 NP_003536.1 P62805 H4_HUMAN histone cluster 1, H4e 51 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 18 all_hematologic(11;0.196) CTGGTCTCATCTACGAGGAGA 0.562000 38 68 6.99958e-10 4.1537e-09 0.00148497 1 0 RIMS2 9699 broad.mit.edu 37 8 104987601 104987601 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:104987601C>G ENST00000507740.1 + 13 2406 c.2170C>G c.(2170-2172)Ctt>Gtt p.L724V RIMS2_ENST00000262231.10_Missense_Mutation_p.L771V|RIMS2_ENST00000436393.2_Missense_Mutation_p.L710V|RIMS2_ENST00000406091.3_Missense_Mutation_p.L932V NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 994 PDZ. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGGTCGAGATCTTCAAAGCTC 0.358000 HNSCC(12;0.0054) 8 29 0 0 0.000157383 0 0 APBA1 320 broad.mit.edu 37 9 72131553 72131553 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr9:72131553C>T ENST00000265381.4 - 2 796 c.574G>A c.(574-576)Ggc>Agc p.G192S NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 192 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TCCTGGAGGCCGCCGTAGTCG 0.687000 5 26 0 0 0.000602214 0 0 IFT43 112752 broad.mit.edu 37 14 76549919 76549919 + Nonstop_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr14:76549919G>C ENST00000314067.6 + 9 660 c.626G>C c.(625-627)tGa>tCa p.*209S IFT43_ENST00000238628.6_Nonstop_Mutation_p.*214S NM_001102564.1 NP_001096034.1 Q96FT9 IFT43_HUMAN intraflagellar transport 43 homolog (Chlamydomonas) 0 cilium morphogenesis|intraflagellar retrograde transport endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 AGGCACACCTGAGCCCGTCAC 0.512000 6 57 0 0 0.00116845 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811511 5811511 + Silent SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chrX:5811511A>G ENST00000381095.3 - 6 2425 c.1798T>C c.(1798-1800)Ttg>Ctg p.L600L NLGN4X_ENST00000381092.1_Silent_p.L600L|NLGN4X_ENST00000538097.1_Silent_p.L600L|NLGN4X_ENST00000275857.6_Silent_p.L600L|NLGN4X_ENST00000381093.2_Silent_p.L620L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 600 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 ATCTCGTTCAAGTTGTGCAAA 0.483000 49 38 0 0 0.000781405 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473131 22473131 + RNA SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr15:22473131G>T ENST00000557788.2 - 0 139 ACTGCTGATGGAGCCACCAGA 0.612000 29 153 3.73988e-18 2.31053e-17 0.00106085 1 0 CHST4 10164 broad.mit.edu 37 16 71570812 71570812 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr16:71570812G>A ENST00000338482.5 + 3 575 c.232G>A c.(232-234)Gtg>Atg p.V78M RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000572450.1_Missense_Mutation_p.V78M|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.V78M Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 78 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 CGCCTGGCACGTGTGGATGAC 0.577000 30 62 0 0 0.000339439 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455394 84455394 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:84455394A>T ENST00000377084.2 - 1 1134 c.249T>A c.(247-249)aaT>aaA p.N83K NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 83 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AACTAACCGCATTATAAAAGT 0.463000 31 65 0 0 0.000409698 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 85 0 0 0.00024832 0 0 PRRC2B 84726 broad.mit.edu 37 9 134343088 134343088 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr9:134343088A>G ENST00000357304.4 + 12 1914 c.1859A>G c.(1858-1860)tAt>tGt p.Y620C PRRC2B_ENST00000458550.1_Missense_Mutation_p.Y620C|PRRC2B_ENST00000405995.1_Missense_Mutation_p.Y620C|PRRC2B_ENST00000372249.1_5'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 620 Gln-rich. protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GAGTTCAAGTATCAGAAGTCC 0.557000 20 45 0 0 0.00047179 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 57 0 0 0.00024832 0 0 PIK3CG 5294 broad.mit.edu 37 7 106513012 106513012 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:106513012G>A ENST00000359195.3 + 3 2336 c.2026G>A c.(2026-2028)Gcc>Acc p.A676T PIK3CG_ENST00000496166.1_Missense_Mutation_p.A676T|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A676T NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 676 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CCATGATAGCGCCCTTGCCAG 0.393000 78 116 0 0 0.000781405 0 0 PHC1 1911 broad.mit.edu 37 12 9092018 9092018 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:9092018A>T ENST00000433083.2 + 14 2988 c.2843A>T c.(2842-2844)aAg>aTg p.K948M PHC1_ENST00000544916.1_Missense_Mutation_p.K993M|PHC1_ENST00000543824.1_Missense_Mutation_p.K993M|PHC1_ENST00000536844.1_Missense_Mutation_p.K599M P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 993 SAM. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 CCTGCCCTCAAGATCTGCGCC 0.488000 13 14 0 0 0.000219431 0 0 OR2T6 254879 broad.mit.edu 37 1 248551197 248551197 + Silent SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:248551197C>A ENST00000355728.2 + 1 288 c.288C>A c.(286-288)gcC>gcA p.A96A NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A96E(1)|p.A96A(1) endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTTTCATCGCCTGCACTGCTC 0.532000 30 75 3.65163e-15 2.22552e-14 0.00106085 1 0 TMTC3 160418 broad.mit.edu 37 12 88589416 88589416 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:88589416A>G ENST00000266712.6 + 14 2955 c.2735A>G c.(2734-2736)aAt>aGt p.N912S NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 913 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 CGTATTTTAAATGGTGAATAA 0.333000 12 50 0 0 0.000978159 0 0 ZNF250 58500 broad.mit.edu 37 8 146107136 146107136 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:146107136C>G ENST00000292579.7 - 6 1563 c.1447G>C c.(1447-1449)Gaa>Caa p.E483Q ZNF250_ENST00000417550.2_Missense_Mutation_p.E478Q|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) TTGCCACATTCTGTGCACTGG 0.552000 7 41 0 0 0.000157383 0 0 NR1H2 7376 broad.mit.edu 37 19 50881485 50881485 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr19:50881485C>T ENST00000253727.5 + 5 496 c.261C>T c.(259-261)tgC>tgT p.C87C NR1H2_ENST00000598168.1_Silent_p.C87C|NR1H2_ENST00000599105.1_Silent_p.C87C|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000593926.1_Silent_p.C87C|NR1H2_ENST00000542413.1_5'UTR NM_007121.5 NP_009052.3 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 87 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) ACGAGCTTTGCCGTGTCTGTG 0.637000 5 161 0 0 0.000602214 0 0 COL22A1 169044 broad.mit.edu 37 8 139601580 139601580 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:139601580G>A ENST00000303045.6 - 65 5243 c.4797C>T c.(4795-4797)ccC>ccT p.P1599P COL22A1_ENST00000435777.1_Silent_p.P1579P|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1599 Collagen-like 16.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTGGGGGACCGGGAGGTCCTG 0.622000 HNSCC(7;0.00092) 7 36 0 0 0.000442599 0 0 ROS1 6098 broad.mit.edu 37 6 117724426 117724426 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:117724426C>T ENST00000368508.3 - 6 651 c.453G>A c.(451-453)ccG>ccA p.P151P ROS1_ENST00000368507.3_Silent_p.P160P|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 151 Fibronectin type-III 1. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CCACATAGGACGGTCTGGACA 0.473000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 11 26 0 0 0.000978159 0 0 PTPN21 11099 broad.mit.edu 37 14 88945598 88945598 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr14:88945598C>G ENST00000556564.1 - 13 2461 c.2177G>C c.(2176-2178)cGg>cCg p.R726P PTPN21_ENST00000328736.3_Missense_Mutation_p.R726P NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 726 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AGGAGGCGCCCGGGCCCCGCT 0.701000 3 20 0 0 6.4e-05 0 0 CMYA5 202333 broad.mit.edu 37 5 79027402 79027402 + Silent SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr5:79027402T>C ENST00000446378.2 + 2 2845 c.2814T>C c.(2812-2814)gaT>gaC p.D938D NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 938 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CAGAAGAAGATCAAGAAGACA 0.413000 48 39 0 0 0.000781405 0 0 OR2T12 127064 broad.mit.edu 37 1 248458107 248458107 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:248458107C>T ENST00000317996.1 - 1 773 c.774G>A c.(772-774)atG>atA p.M258I NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ATTTGGGTCTCATATAGGTAA 0.483000 50 98 0 0 0.000781405 0 0 KDM6B 23135 broad.mit.edu 37 17 7752094 7752094 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr17:7752094G>A ENST00000254846.5 + 11 2877 c.2488G>A c.(2488-2490)Ggg>Agg p.G830R KDM6B_ENST00000448097.2_Missense_Mutation_p.G830R NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 830 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CACCCGGCCTGGGCCCTTGCC 0.682000 9 131 0 0 0.000442599 0 0 BPNT1 10380 broad.mit.edu 37 1 220253139 220253139 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:220253139G>C ENST00000469520.2 - 3 499 c.50C>G c.(49-51)tCt>tGt p.S17C BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.S17C|BPNT1_ENST00000354807.3_Missense_Mutation_p.S17C|BPNT1_ENST00000414869.2_Missense_Mutation_p.S17C|BPNT1_ENST00000482136.1_Intron O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 17 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1) 14 GBM - Glioblastoma multiforme(131;0.0558) TTGAGCAATAGAATATGCGGA 0.413000 8 56 0 0 0.000274275 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889583 23889583 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr15:23889583A>G ENST00000532292.1 - 1 1592 c.1498T>C c.(1498-1500)Tcc>Ccc p.S500P NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TCTAAATAGGATGCCACCAAA 0.423000 5 40 0 0 0.000602214 0 0 LEMD3 23592 broad.mit.edu 37 12 65564805 65564805 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:65564805C>G ENST00000308330.2 + 1 1455 c.1429C>G c.(1429-1431)Ctc>Gtc p.L477V LEMD3_ENST00000541171.1_Intron NM_001167614.1|NM_014319.4 NP_001161086.1|NP_055134.2 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 477 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) GTCGATGTTTCTCTTAACTGC 0.478000 23 38 0 0 0.00188189 0 0 NDNF 79625 broad.mit.edu 37 4 121958183 121958183 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr4:121958183A>T ENST00000379692.4 - 4 1469 c.943T>A c.(943-945)Ttt>Att p.F315I NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 315 Fibronectin type-III 1. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 TTGACCACAAATACATCAAAG 0.453000 15 71 0 0 0.00074312 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283873 33283873 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:33283873G>A ENST00000431845.2 - 2 972 c.821C>T c.(820-822)gCa>gTa p.A274V ZBTB22_ENST00000418724.1_Missense_Mutation_p.A274V NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 AGGAACCACTGCCCCCCTCCC 0.607000 12 45 0 0 0.000978159 0 0 ZRANB3 84083 broad.mit.edu 37 2 136111147 136111147 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:136111147C>G ENST00000401392.1 - 4 444 c.232G>C c.(232-234)Gag>Cag p.E78Q ZRANB3_ENST00000536680.1_Missense_Mutation_p.E78Q|ZRANB3_ENST00000264159.6_Missense_Mutation_p.E78Q Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 78 Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) GGCCATTCCTCTTTATAGAAG 0.343000 3 44 0 0 6.4e-05 0 0 WDR64 128025 broad.mit.edu 37 1 241958516 241958516 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:241958516G>C ENST00000366552.2 + 25 3182 c.2975G>C c.(2974-2976)aGa>aCa p.R992T WDR64_ENST00000437684.2_Missense_Mutation_p.R825T NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 992 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CAGATTCGAAGATATCCCTTG 0.428000 28 117 0 0 0.00127121 0 0 AGBL5 60509 broad.mit.edu 37 2 27278036 27278036 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:27278036C>T ENST00000360131.4 + 6 982 c.823C>T c.(823-825)Ccc>Tcc p.P275S AGBL5_ENST00000323064.8_Missense_Mutation_p.P275S NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 275 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTGATGATCCCCGGGCCCA 0.537000 29 189 0 0 0.001512 0 0 EEF1A2 1917 broad.mit.edu 37 20 62122079 62122079 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr20:62122079G>A ENST00000217182.3 - 6 947 c.782C>T c.(781-783)aCg>aTg p.T261M EEF1A2_ENST00000298049.7_Missense_Mutation_p.T261M NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 261 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CACGGGCACCGTGCCAATGCC 0.647000 18 41 0 0 0.000958276 0 0 SYK 6850 broad.mit.edu 37 9 93650902 93650902 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr9:93650902A>G ENST00000375754.4 + 13 1976 c.1828A>G c.(1828-1830)Aca>Gca p.T610A SYK_ENST00000375747.1_Missense_Mutation_p.T587A|SYK_ENST00000375746.1_Missense_Mutation_p.T610A|SYK_ENST00000375751.4_Missense_Mutation_p.T587A NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 610 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TCTGTGCTGGACATACGAGTG 0.463000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 7 18 0 0 8.12818e-05 0 0 FBN3 84467 broad.mit.edu 37 19 8191467 8191467 + Nonsense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr19:8191467C>T ENST00000600128.1 - 20 2853 c.2439G>A c.(2437-2439)tgG>tgA p.W813* FBN3_ENST00000601739.1_Nonsense_Mutation_p.W813*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.W813* Q75N90 FBN3_HUMAN fibrillin 3 813 TB 4. 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 GGATCTTCAGCCAGCAGGTGC 0.677000 6 12 0 0 0.000157383 0 0 ANKRD17 26057 broad.mit.edu 37 4 73956863 73956863 + Missense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr4:73956863T>A ENST00000358602.4 - 29 6598 c.6482A>T c.(6481-6483)cAg>cTg p.Q2161L ANKRD17_ENST00000330838.6_Missense_Mutation_p.Q1910L|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q2048L NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 2161 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CATTGGTGTCTGAGGCATAGG 0.532000 39 170 0 0 0.00170553 0 0 DPP10 57628 broad.mit.edu 37 2 116510763 116510763 + Missense_Mutation SNP A A C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:116510763A>C ENST00000410059.1 + 11 1444 c.964A>C c.(964-966)Act>Cct p.T322P DPP10_ENST00000393147.2_Missense_Mutation_p.T326P|DPP10_ENST00000310323.8_Missense_Mutation_p.T315P|DPP10_ENST00000409163.1_Missense_Mutation_p.T272P NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 322 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 ATACTATATCACTATGGTTAA 0.358000 5 34 0 0 0.00116845 0 0 CFHR4 10877 broad.mit.edu 37 1 196876522 196876522 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:196876522G>A ENST00000367416.2 + 5 827 c.690G>A c.(688-690)ctG>ctA p.L230L CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 AAGTGTATCTGCCATGGTCAA 0.428000 6 61 0 0 0.00116845 0 0 OR4D5 219875 broad.mit.edu 37 11 123811175 123811175 + Silent SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:123811175T>C ENST00000307033.2 + 1 926 c.852T>C c.(850-852)ccT>ccC p.P284P NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TGCTGAATCCTGCCATCTATA 0.502000 22 86 0 0 0.000375601 0 0 DOCK5 80005 broad.mit.edu 37 8 25154152 25154152 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:25154152C>T ENST00000276440.7 + 7 638 c.594C>T c.(592-594)atC>atT p.I198I DOCK5_ENST00000481100.1_Silent_p.I198I NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 198 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) AGGAAAAGATCCAAGAAGAGA 0.448000 8 14 0 0 0.000157383 0 0 WASF1 8936 broad.mit.edu 37 6 110421867 110421867 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:110421867T>C ENST00000392589.1 - 11 2374 c.1538A>G c.(1537-1539)aAa>aGa p.K513R WASF1_ENST00000392586.1_Missense_Mutation_p.K513R|WASF1_ENST00000359451.2_Missense_Mutation_p.K513R|WASF1_ENST00000392587.2_Missense_Mutation_p.K513R|WASF1_ENST00000392588.1_Missense_Mutation_p.K513R NM_003931.2 NP_003922.1 Q92558 WASF1_HUMAN WAS protein family, member 1 513 WH2. actin filament polymerization|cellular component movement actin cytoskeleton actin binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) CTCTTCTACTTTGCGTAGCTG 0.363000 14 27 0 0 0.00074312 0 0 ZNF250 58500 broad.mit.edu 37 8 146107269 146107269 + Silent SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:146107269C>G ENST00000292579.7 - 6 1430 c.1314G>C c.(1312-1314)ctG>ctC p.L438L ZNF250_ENST00000417550.2_Silent_p.L433L|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) GGTGCTGGATCAGGTGTGAGT 0.567000 11 62 0 0 0.00136819 0 0 NXF1 10482 broad.mit.edu 37 11 62569082 62569082 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:62569082C>T ENST00000531709.2 - 7 774 c.661G>A c.(661-663)Gat>Aat p.D221N NXF1_ENST00000294172.2_Missense_Mutation_p.D221N|NXF1_ENST00000532297.1_Missense_Mutation_p.D221N|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000439713.2_Missense_Mutation_p.D221N NM_001081491.1 NP_001074960.1 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 221 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGGAGCCATCGTATCGTTTG 0.507000 18 170 0 0 0.00074312 0 0 GAP43 2596 broad.mit.edu 37 3 115395102 115395102 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr3:115395102C>T ENST00000393780.3 + 3 849 c.381C>T c.(379-381)gcC>gcT p.A127A GAP43_ENST00000305124.6_Silent_p.A91A NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 91 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) CCGAAGCAGCCCCAGCCACTG 0.592000 9 50 0 0 0.00185496 0 0 FOXO1 2308 broad.mit.edu 37 13 41134865 41134865 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:41134865C>T ENST00000379561.5 - 2 1147 c.763G>A c.(763-765)Gca>Aca p.A255T NM_002015.3 NP_002006.2 Q12778 FOXO1_HUMAN forkhead box O1 255 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) TCCATGGATGCAGCTCTTCTC 0.517000 18 149 0 0 0.000566183 0 0 POLR2G 5436 broad.mit.edu 37 11 62532822 62532822 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:62532822C>T ENST00000301788.7 + 5 449 c.344C>T c.(343-345)tCa>tTa p.S115L NM_002696.2 NP_002687.1 P62487 RPB7_HUMAN polymerase (RNA) II (DNA directed) polypeptide G 115 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|protein binding|RNA binding p.S115L(1) lung(3) 3 TCCATCCCTTCAGAGATGGAG 0.458000 28 288 0 0 0.000878237 0 0 OR10H2 26538 broad.mit.edu 37 19 15839701 15839701 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr19:15839701C>T ENST00000305899.3 + 1 868 c.848C>T c.(847-849)aCg>aTg p.T283M NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GCAGTCCTCACGCCCTTCCTC 0.547000 29 119 0 0 0.000339439 0 0 PTPRK 5796 broad.mit.edu 37 6 128404886 128404886 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:128404886G>C ENST00000368227.3 - 9 1915 c.1549C>G c.(1549-1551)Cca>Gca p.P517A PTPRK_ENST00000368215.3_Missense_Mutation_p.P517A|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368210.3_Missense_Mutation_p.P517A|PTPRK_ENST00000368207.3_Missense_Mutation_p.P517A|PTPRK_ENST00000368226.4_Missense_Mutation_p.P517A|PTPRK_ENST00000368213.5_Missense_Mutation_p.P517A|PTPRK_ENST00000532331.1_Missense_Mutation_p.P517A|PTPRK_ENST00000524481.1_5'UTR Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 517 Fibronectin type-III 3. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.P517S(1) PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ATTCCATTTGGATCCAAAGGT 0.368000 23 99 0 0 0.00188189 0 0 PPFIA2 8499 broad.mit.edu 37 12 81777935 81777935 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:81777935A>T ENST00000550584.2 - 8 1146 c.851T>A c.(850-852)aTg>aAg p.M284K PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M266K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.M210K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.M284K|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000333447.7_Missense_Mutation_p.M266K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.M131K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.M185K NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 210 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CATCTGGGCCATTTCATAGTT 0.413000 10 25 0 0 0.000442599 0 0 PRPF4B 8899 broad.mit.edu 37 6 4037761 4037761 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:4037761C>T ENST00000337659.6 + 3 1469 c.1369C>T c.(1369-1371)Cgt>Tgt p.R457C PRPF4B_ENST00000538861.1_Missense_Mutation_p.R443C NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 457 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) CCCACTCAGACGTAGCAGGTC 0.448000 20 41 0 0 0.00188189 0 0 NINL 22981 broad.mit.edu 37 20 25459583 25459583 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr20:25459583T>C ENST00000278886.6 - 16 2250 c.2177A>G c.(2176-2178)cAt>cGt p.H726R NINL_ENST00000422516.1_Missense_Mutation_p.H726R NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 726 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GTGGCTGTGATGCCGCAGGGC 0.582000 33 73 0 0 0.00058488 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212521732 212521732 + Splice_Site SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:212521732A>T ENST00000261461.2 + 7 1340 c.764_splice c.e7-1 p.I256_splice PPP2R5A_ENST00000537030.3_Splice_Site_p.I199_splice NM_006243.3 NP_006234.1 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B', alpha 256 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) TCCCTCCAGTATTATCAATGG 0.368000 28 67 0 0 0.000878237 0 0 EHD1 10938 broad.mit.edu 37 11 64627443 64627443 + Missense_Mutation SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:64627443C>A ENST00000320631.3 - 3 1122 c.868G>T c.(868-870)Gcc>Tcc p.A290S EHD1_ENST00000359393.2_Missense_Mutation_p.A290S NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 290 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding p.A290T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 TTCCTGAGGGCGGCGTTTCGG 0.637000 46 32 3.21987e-24 2.01689e-23 0.000781405 1 0 SCN1A 6323 broad.mit.edu 37 2 166901572 166901572 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:166901572C>G ENST00000423058.2 - 10 1660 c.1643G>C c.(1642-1644)aGg>aCg p.R548T AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.R548T|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R548T|SCN1A_ENST00000375405.3_Missense_Mutation_p.R548T|AC010127.3_ENST00000599041.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 548 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGAGGAGTACCTCTTTTCATA 0.433000 44 82 0 0 0.000509022 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20127041 20127041 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr22:20127041G>A ENST00000334554.7 + 3 408 c.267G>A c.(265-267)ccG>ccA p.P89P ZDHHC8_ENST00000405930.3_Silent_p.P89P|ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Silent_p.P89P NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 89 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) TCCGGGCTCCGCTGTACAAGA 0.607000 61 44 0 0 0.000781405 0 0 DIAPH3 81624 broad.mit.edu 37 13 60413536 60413536 + Missense_Mutation SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:60413536C>A ENST00000400324.4 - 23 3004 c.2784G>T c.(2782-2784)caG>caT p.Q928H DIAPH3_ENST00000377908.2_Missense_Mutation_p.Q917H|DIAPH3_ENST00000400319.1_Missense_Mutation_p.Q858H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.Q928H|DIAPH3_ENST00000400330.1_Missense_Mutation_p.Q928H|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.Q882H NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 928 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GCTGTTGAAGCTGCCTTCCCA 0.383000 16 38 1.15088e-07 6.74085e-07 0.000422831 1 0 DMP1 1758 broad.mit.edu 37 4 88584472 88584472 + Nonstop_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr4:88584472G>C ENST00000339673.6 + 6 1641 c.1542G>C c.(1540-1542)taG>taC p.*514Y RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Nonstop_Mutation_p.*498Y|RP11-742B18.1_ENST00000507894.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 0 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) ACGGCTATTAGCATCAGCTGT 0.373000 32 134 0 0 0.000409698 0 0 CNGA1 1259 broad.mit.edu 37 4 47939078 47939078 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr4:47939078C>T ENST00000402813.3 - 10 1782 c.1640G>A c.(1639-1641)cGc>cAc p.R547H CNGA1_ENST00000544810.1_Missense_Mutation_p.R478H|CNGA1_ENST00000420489.2_Missense_Mutation_p.R478H|CNGA1_ENST00000358519.4_Missense_Mutation_p.R478H|CNGA1_ENST00000514170.1_Missense_Mutation_p.R478H P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 478 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 AGCAAAAATGCGTACCTTTTT 0.378000 22 92 0 0 0.00188189 0 0 PFKFB2 5208 broad.mit.edu 37 1 207236550 207236550 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:207236550T>C ENST00000367080.3 + 5 495 c.371T>C c.(370-372)aTt>aCt p.I124T PFKFB2_ENST00000411990.2_Missense_Mutation_p.I26T|PFKFB2_ENST00000367079.2_Missense_Mutation_p.I124T|PFKFB2_ENST00000545806.1_Missense_Mutation_p.I91T NM_006212.2 NP_006203.2 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 124 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 20 Prostate(682;0.19) AATGGTCAGATTGCGGTAAGC 0.532000 9 98 0 0 0.000274275 0 0 PGM3 5238 broad.mit.edu 37 6 83896760 83896760 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:83896760C>T ENST00000513973.1 - 4 540 c.424G>A c.(424-426)Gat>Aat p.D142N PGM3_ENST00000283977.4_Missense_Mutation_p.D61N|PGM3_ENST00000512866.1_Missense_Mutation_p.D142N|PGM3_ENST00000506587.1_Missense_Mutation_p.D170N NM_001199918.1|NM_015599.2 NP_001186847.1|NP_056414.1 O95394 AGM1_HUMAN phosphoglucomutase 3 142 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 18 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) GTCACACCATCTATTACAGAT 0.353000 20 61 0 0 0.000586117 0 0 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr17:7578275G>A ENST00000420246.2 - 6 706 c.574C>T c.(574-576)Cag>Tag p.Q192* TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 192 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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) ATAAGATGCTGAGGAGGGGCC 0.557000 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 21 0 0 0.000219431 0 0 MYSM1 114803 broad.mit.edu 37 1 59131251 59131251 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:59131251T>C ENST00000472487.1 - 17 2123 c.2084A>G c.(2083-2085)tAt>tGt p.Y695C MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 695 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) ATTTCGATTATAGGGACTAAC 0.333000 9 67 0 0 0.000673444 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33885692 33885692 + Missense_Mutation SNP A A C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr3:33885692A>C ENST00000307296.3 + 11 1825 c.1448A>C c.(1447-1449)gAa>gCa p.E483A PDCD6IP_ENST00000457054.2_Missense_Mutation_p.E488A Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 483 Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 CCATCCAATGAACTGTATAAG 0.343000 4 63 0 0 0.000602214 0 0 STK31 56164 broad.mit.edu 37 7 23825129 23825129 + Silent SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:23825129A>G ENST00000354639.3 + 18 2576 c.2112A>G c.(2110-2112)gaA>gaG p.E704E STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.E704E|STK31_ENST00000355870.3_Silent_p.E727E|STK31_ENST00000433467.2_Silent_p.E727E NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 727 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGAGCTTGGAACGAGATCTTC 0.403000 35 90 0 0 0.000814825 0 0 TRPA1 8989 broad.mit.edu 37 8 72948640 72948640 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:72948640G>A ENST00000262209.4 - 21 2645 c.2438C>T c.(2437-2439)aCg>aTg p.T813M TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 813 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GATGCCCGTCGTGTAGATAAT 0.363000 14 53 0 0 0.00185496 0 0 REPS1 85021 broad.mit.edu 37 6 139266690 139266690 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:139266690T>C ENST00000450536.2 - 3 996 c.422A>G c.(421-423)aAg>aGg p.K141R REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 141 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TACGGATCCCTTTTTCACTTG 0.478000 3 138 0 0 0.000602214 0 0 THSD7A 221981 broad.mit.edu 37 7 11675953 11675953 + Nonsense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:11675953T>A ENST00000423059.3 - 2 1077 c.826A>T c.(826-828)Aga>Tga p.R276* NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 276 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTCCCGCGTCTCCTTGCTTGT 0.537000 HNSCC(18;0.044) 32 95 0 0 0.000409698 0 0 NMT2 9397 broad.mit.edu 37 10 15151773 15151773 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr10:15151773C>G ENST00000378165.4 - 11 1484 c.1404G>C c.(1402-1404)aaG>aaC p.K468N NMT2_ENST00000378150.1_Missense_Mutation_p.K455N|NMT2_ENST00000540259.1_Missense_Mutation_p.K280N|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR|NMT2_ENST00000535341.1_Missense_Mutation_p.K455N NM_004808.2 NP_004799.1 O60551 NMT2_HUMAN N-myristoyltransferase 2 468 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3) 21 CTATACCAAACTTGAGTTTTT 0.328000 14 91 0 0 0.000566183 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361225 105361225 + Nonsense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:105361225C>T ENST00000297581.2 + 2 494 c.445C>T c.(445-447)Cag>Tag p.Q149* DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.Q149* NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 149 osteoclast differentiation cell surface|integral to membrane|plasma membrane TGAGGCAATTCAGTGGATTTA 0.418000 14 84 0 0 0.000219431 0 0 MTOR 2475 broad.mit.edu 37 1 11298657 11298657 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:11298657A>G ENST00000361445.4 - 12 1880 c.1804T>C c.(1804-1806)Ttt>Ctt p.F602L NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 602 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TGGCGAACAAATTGGGTCAGA 0.532000 8 5 0 0 0.000157383 0 0 CSMD3 114788 broad.mit.edu 37 8 113988168 113988168 + Missense_Mutation SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:113988168C>A ENST00000297405.5 - 7 1484 c.1240G>T c.(1240-1242)Ggg>Tgg p.G414W CSMD3_ENST00000352409.3_Missense_Mutation_p.G414W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G374W|CSMD3_ENST00000455883.2_Intron NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 414 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 GGAGAGAGCCCGTCCTTGGAC 0.478000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 117 6.33239e-15 3.83343e-14 0.00152264 1 0 NKX2-4 644524 broad.mit.edu 37 20 21377938 21377938 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr20:21377938C>T ENST00000351817.4 - 1 728 c.100G>A c.(100-102)Gcg>Acg p.A34T NM_033176.1 NP_149416.1 Q9H2Z4 NKX24_HUMAN NK2 homeobox 4 34 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 ccgggtggcgcgccgTCCATG 0.731000 4 7 0 0 0.00024832 0 0 GPR98 84059 broad.mit.edu 37 5 90041015 90041015 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr5:90041015C>G ENST00000405460.2 + 51 10798 c.10702C>G c.(10702-10704)Cta>Gta p.L3568V NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3568 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTAATAGCTCTAGTGGGAGC 0.368000 40 134 0 0 0.00170553 0 0 CT47B1 643311 broad.mit.edu 37 X 120008850 120008850 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chrX:120008850C>G ENST00000371311.3 - 1 929 c.675G>C c.(673-675)gaG>gaC p.E225D NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 225 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 ctgGGGGTTTCTCATCTGCGG 0.701000 7 128 0 0 0.000157383 0 0 PDHA2 5161 broad.mit.edu 37 4 96761919 96761919 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr4:96761919C>T ENST00000295266.4 + 1 681 c.618C>T c.(616-618)ttC>ttT p.F206F NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 206 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CCGAAGCTTTCAATATGGCAG 0.443000 14 49 0 0 0.000219431 0 0 OR5F1 338674 broad.mit.edu 37 11 55761646 55761646 + Silent SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:55761646C>A ENST00000278409.1 - 1 455 c.456G>T c.(454-456)ggG>ggT p.G152G NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) AGTTCAGCAACCCTGCAGCAA 0.507000 11 60 9.70103e-10 5.71917e-09 0.000673444 1 0 ESRRB 2103 broad.mit.edu 37 14 76957942 76957942 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr14:76957942C>T ENST00000380887.2 + 6 1012 c.940C>T c.(940-942)Ctc>Ttc p.L314F ESRRB_ENST00000509242.1_Missense_Mutation_p.L314F|ESRRB_ENST00000556177.1_Missense_Mutation_p.L314F|ESRRB_ENST00000261532.7_Missense_Mutation_p.L314F A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 314 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) GCACTCCCGCCTCGCGGGGCT 0.592000 4 9 0 0 0.000602214 0 0 MAPK4 5596 broad.mit.edu 37 18 48252451 48252451 + Nonsense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr18:48252451C>T ENST00000400384.2 + 5 2009 c.973C>T c.(973-975)Caa>Taa p.Q325* MAPK4_ENST00000540640.1_Nonsense_Mutation_p.Q114*|MAPK4_ENST00000592595.1_Intron NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 325 cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) GCCCACCTCACAACACCCCTT 0.582000 36 31 0 0 0.000692331 0 0 COL4A2 1284 broad.mit.edu 37 13 111102707 111102707 + Silent SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:111102707C>G ENST00000360467.5 + 20 1551 c.1245C>G c.(1243-1245)ccC>ccG p.P415P NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 415 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding p.P415P(1) NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TCGGAGACCCCGGCATCCCTG 0.637000 3 81 0 0 6.4e-05 0 0 SETDB1 9869 broad.mit.edu 37 1 150934615 150934615 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:150934615G>A ENST00000271640.5 + 17 3329 c.3139G>A c.(3139-3141)Gac>Aac p.D1047N SETDB1_ENST00000368969.4_Missense_Mutation_p.D1047N NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 1047 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GGACACTGACGACCGAAACAA 0.438000 73 177 0 0 0.000781405 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 45 0 0 6.4e-05 0 0 PAPPA 5069 broad.mit.edu 37 9 118997917 118997917 + Splice_Site SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr9:118997917G>T ENST00000328252.3 + 7 3101 c.e7+1 PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TCGTAGACATGTAAGTGCATT 0.507000 42 103 5.2432e-18 3.21726e-17 0.000781405 1 0 NID2 22795 broad.mit.edu 37 14 52520462 52520462 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr14:52520462G>T ENST00000216286.5 - 5 1263 c.1264C>A c.(1264-1266)Ccc>Acc p.P422T NID2_ENST00000541773.1_Missense_Mutation_p.P369T NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 422 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TCTGGGTAGGGCTGGATGCTT 0.552000 23 59 1.10513e-12 6.64554e-12 0.000295444 1 0 BYSL 705 broad.mit.edu 37 6 41889501 41889501 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr6:41889501G>C ENST00000230340.4 + 1 576 c.201G>C c.(199-201)gaG>gaC p.E67D NM_004053.3 NP_004044.3 Q13895 BYST_HUMAN bystin-like 67 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1) 8 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGCAACAGGAGGAACTCGAGG 0.677000 OREG0017436 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 26 0 0 0.000308642 0 0 PYGO1 26108 broad.mit.edu 37 15 55838317 55838317 + Silent SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr15:55838317T>A ENST00000302000.6 - 3 1258 c.1164A>T c.(1162-1164)gcA>gcT p.A388A PYGO1_ENST00000563719.1_Silent_p.A388A NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 388 Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) AGCCCCATACTGCAGATGCTT 0.448000 25 60 0 0 0.000375601 0 0 SDHAP1 255812 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 3 98 0 0 0.000602214 0 0 SMG1 23049 broad.mit.edu 37 16 18875116 18875116 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr16:18875116T>C ENST00000446231.2 - 25 3963 c.3551A>G c.(3550-3552)aAt>aGt p.N1184S SMG1_ENST00000389467.3_Missense_Mutation_p.N1184S Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1184 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TCCTAAATAATTTATAACCTC 0.403000 13 36 0 0 0.00074312 0 0 KIZ-AS1 101929591 broad.mit.edu 37 20 21143094 21143094 + RNA SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr20:21143094G>A ENST00000591761.1 - 0 5142 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA AGAATACTGTGAATCTGAAAA 0.468000 8 20 0 0 0.000157383 0 0 SDHAP1 255812 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 3 104 0 0 0.00024832 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723492 58723492 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:58723492C>G ENST00000300079.5 + 7 1044 c.994C>G c.(994-996)Cca>Gca p.P332A GLYATL1_ENST00000317391.4_Missense_Mutation_p.P301A|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 301 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) GAATCTAGTTCCATTTTAGAC 0.418000 3 86 0 0 0.000602214 0 0 WDR53 348793 broad.mit.edu 37 3 196281606 196281606 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr3:196281606T>C ENST00000332629.5 - 4 1120 c.553A>G c.(553-555)Atg>Gtg p.M185V WDR53_ENST00000433160.1_Missense_Mutation_p.M26V|WDR53_ENST00000429115.1_Missense_Mutation_p.M24V NM_182627.1 NP_872433.1 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 185 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 13 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) GGGCCTTCCATTTCTTCTGTT 0.438000 80 288 0 0 0.000781405 0 0 STEAP4 79689 broad.mit.edu 37 7 87913172 87913172 + Nonsense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:87913172G>C ENST00000380079.4 - 2 514 c.413C>G c.(412-414)tCa>tGa p.S138* AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.S138*|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Nonsense_Mutation_p.S138* NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 138 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) AGCCCAGGCTGAGATGGTGTT 0.418000 404 101 0 0 0.000781405 0 0 TSC22D1 8848 broad.mit.edu 37 13 45148997 45148997 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr13:45148997G>A ENST00000458659.2 - 1 1704 c.1214C>T c.(1213-1215)tCg>tTg p.S405L TSC22D1_ENST00000501704.2_Missense_Mutation_p.S405L NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 405 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TCTGAACCTCGAAGTGTTAAC 0.438000 25 83 0 0 0.000720815 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 4 136 0 0 0.00024832 0 0 OR6C1 390321 broad.mit.edu 37 12 55714812 55714812 + Silent SNP T T G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:55714812T>G ENST00000379668.2 + 1 467 c.429T>G c.(427-429)gtT>gtG p.V143V NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 CACTGCTTGTTTTTACTTCTT 0.408000 6 22 0 0 0.00116845 0 0 TXNRD1 7296 broad.mit.edu 37 12 104732985 104732985 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:104732985G>A ENST00000526691.1 + 14 1977 c.1521G>A c.(1519-1521)gcG>gcA p.A507A TXNRD1_ENST00000524698.1_Silent_p.A455A|TXNRD1_ENST00000378070.4_Silent_p.A554A|TXNRD1_ENST00000525566.1_Silent_p.A605A|TXNRD1_ENST00000429002.2_Silent_p.A605A|TXNRD1_ENST00000388854.3_Silent_p.A507A|TXNRD1_ENST00000529546.1_Silent_p.A417A|TXNRD1_ENST00000540716.1_Silent_p.A417A|TXNRD1_ENST00000542918.1_Silent_p.A505A|TXNRD1_ENST00000427956.1_Silent_p.A570A|TXNRD1_ENST00000354940.6_Silent_p.A455A|TXNRD1_ENST00000526950.1_Silent_p.A524A|TXNRD1_ENST00000526390.1_Silent_p.A499A|TXNRD1_ENST00000503506.2_Silent_p.A455A|TXNRD1_ENST00000397736.2_Silent_p.A499A NM_001261445.1|NM_003330.3 NP_001248374.1|NP_003321.3 Q16881 TRXR1_HUMAN thioredoxin reductase 1 605 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 TTGCAGCTGCGCTCAAATGTG 0.433000 9 29 0 0 0.000442599 0 0 MEF2B 100271849 broad.mit.edu 37 19 19260222 19260222 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr19:19260222C>G ENST00000602424.2 - 5 797 c.71G>C c.(70-72)cGg>cCg p.R24P MEF2B_ENST00000410050.1_Missense_Mutation_p.R24P|MEF2B_ENST00000409447.2_Missense_Mutation_p.R24P|MEF2B_ENST00000409224.1_Missense_Mutation_p.R24P|MEF2B_ENST00000424583.2_Missense_Mutation_p.R24P|MEF2B_ENST00000162023.5_Missense_Mutation_p.R24P|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R24P|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R41P|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR NM_005919.3 NP_005910.1 myocyte enhancer factor 2B breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) CCCGAACTTCCGCTTGGTGAA 0.562000 16 54 0 0 0.00074312 0 0 OR52A4P 390053 broad.mit.edu 37 11 5142746 5142746 + RNA SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr11:5142746G>A ENST00000498233.1 - 0 652 breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CAAAACCGGGGATCCCAATAA 0.418000 24 119 0 0 0.000878237 0 0 SCAF11 9169 broad.mit.edu 37 12 46315837 46315837 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:46315837T>C ENST00000465950.1 - 5 4650 c.3441A>G c.(3439-3441)atA>atG p.I1147M SCAF11_ENST00000419565.2_Missense_Mutation_p.I1462M|SCAF11_ENST00000369367.3_Missense_Mutation_p.I1462M|SCAF11_ENST00000550629.1_Intron|SCAF11_ENST00000549162.1_Missense_Mutation_p.I1270M Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1462 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 CATTTCAGCCTATGTTTTTTT 0.378000 3 148 0 0 6.4e-05 0 0 DNM1L 10059 broad.mit.edu 37 12 32886735 32886735 + Silent SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr12:32886735T>C ENST00000452533.2 + 13 1697 c.1533T>C c.(1531-1533)aaT>aaC p.N511N DNM1L_ENST00000381000.4_Silent_p.N524N|DNM1L_ENST00000358214.5_Silent_p.N524N|DNM1L_ENST00000414834.2_Silent_p.N308N|DNM1L_ENST00000266481.6_Silent_p.N511N|DNM1L_ENST00000553257.1_Silent_p.N524N|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000547312.1_Silent_p.N511N|DNM1L_ENST00000549701.1_Silent_p.N511N NM_012062.3|NM_012063.2 NP_036192.2|NP_036193.2 O00429 DNM1L_HUMAN dynamin 1-like 511 B domain.|Interaction with GSK3B. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGAACAATAATATAGAGGTAA 0.303000 53 148 0 0 0.000781405 0 0 ZNF43 7594 broad.mit.edu 37 19 21990434 21990434 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr19:21990434G>A ENST00000594012.1 - 7 2901 c.2387C>T c.(2386-2388)cCt>cTt p.P796L ZNF43_ENST00000354959.4_Missense_Mutation_p.P802L|ZNF43_ENST00000598381.1_Missense_Mutation_p.P796L|ZNF43_ENST00000595461.1_Missense_Mutation_p.P796L NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 802 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) AAAAGTTTGAGGTGTTGTCAA 0.313000 9 43 0 0 0.000274275 0 0 SYTL1 84958 broad.mit.edu 37 1 27677312 27677312 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:27677312G>T ENST00000543823.1 + 10 1495 c.1033G>T c.(1033-1035)Ggc>Tgc p.G345C SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.G333C Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 345 C2 1. exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CGAGCTTCAGGGCCGCGTGCT 0.642000 20 24 2.70639e-06 1.57495e-05 0.000295444 1 0 CDCA2 157313 broad.mit.edu 37 8 25365207 25365207 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:25365207C>G ENST00000330560.3 + 15 3502 c.3025C>G c.(3025-3027)Ctg>Gtg p.L1009V CDCA2_ENST00000380665.3_Missense_Mutation_p.L994V|CDCA2_ENST00000521098.2_3'UTR NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 1009 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AGAGAGCTCTCTGACTGCCTT 0.433000 15 99 0 0 0.000566183 0 0 GBP7 388646 broad.mit.edu 37 1 89616146 89616146 + Missense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:89616146T>A ENST00000294671.2 - 6 876 c.738A>T c.(736-738)ttA>ttT p.L246F NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 246 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) CAACATGGAGTAAGAGTTTTT 0.383000 22 49 0 0 0.000295444 0 0 CDH19 28513 broad.mit.edu 37 18 64172067 64172067 + Silent SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr18:64172067T>A ENST00000262150.2 - 12 2593 c.2301A>T c.(2299-2301)gcA>gcT p.A767A NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 767 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TTGACTGCACTGCAGAACCAA 0.388000 18 19 0 0 0.00188189 0 0 EGFR 1956 broad.mit.edu 37 7 55210124 55210124 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:55210124C>G ENST00000275493.2 + 2 411 c.234C>G c.(232-234)ttC>ttG p.F78L EGFR_ENST00000344576.2_Missense_Mutation_p.F78L|EGFR_ENST00000342916.3_Missense_Mutation_p.F78L|EGFR_ENST00000454757.2_Missense_Mutation_p.F25L|EGFR_ENST00000420316.2_Missense_Mutation_p.F78L|EGFR_ENST00000442591.1_Missense_Mutation_p.F78L|EGFR_ENST00000455089.1_Missense_Mutation_p.F78L NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 78 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATCTTTCCTTCTTAAAGGTTG 0.378000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 12 1031 0 0 0.000274275 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ggaatggaatcgaatcgaatc 0.373000 2 2 0 0 6.4e-05 0 0 FLG 2312 broad.mit.edu 37 1 152286148 152286148 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr1:152286148G>C ENST00000368799.1 - 3 1249 c.1214C>G c.(1213-1215)gCt>gGt p.A405G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 405 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCAGATGAAGCTTGCCCGCG 0.562000 Ichthyosis 140 335 0 0 0.000781405 0 0 GSS 2937 broad.mit.edu 37 20 33524591 33524591 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr20:33524591G>A ENST00000216951.2 - 8 840 c.742C>T c.(742-744)Ctg>Ttg p.L248L GSS_ENST00000451957.2_Silent_p.L137L|GSS_ENST00000541098.1_Silent_p.L120L NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 248 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) TCTTGGTCCAGAGACCCCTTT 0.473000 43 226 0 0 0.000781405 0 0 MAPK4 5596 broad.mit.edu 37 18 48252451 48252451 + Nonsense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr18:48252451C>T ENST00000400384.2 + 5 2009 c.973C>T c.(973-975)Caa>Taa p.Q325* MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Nonsense_Mutation_p.Q114* NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 325 cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) GCCCACCTCACAACACCCCTT 0.582000 36 31 0 0 0.000692331 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862909 10862909 + RNA SNP T T G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr21:10862909T>G ENST00000559480.1 + 0 205 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GTGGATGGGATTGGTGTGCCC 0.542000 11 239 0 0 0.00244969 0 0 COQ10A 93058 broad.mit.edu 37 12 56663287 56663287 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr12:56663287T>C ENST00000308197.5 + 4 779 c.518T>C c.(517-519)aTt>aCt p.I173T COQ10A_ENST00000433805.2_Missense_Mutation_p.I141T|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Missense_Mutation_p.I156T NM_144576.3 NP_653177.3 Q96MF6 CQ10A_HUMAN coenzyme Q10 homolog A (S. cerevisiae) 173 mitochondrial inner membrane cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 8 TTAGAGACTATTTGGCGATTC 0.438000 22 143 0 0 0.00229938 0 0 KCNH7 90134 broad.mit.edu 37 2 163228467 163228467 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr2:163228467G>T ENST00000332142.5 - 16 3562 c.3463C>A c.(3463-3465)Cac>Aac p.H1155N NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 1155 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TGCCGCAGGTGAAGCTCTAAA 0.428000 8 47 1.12685e-05 4.26544e-05 0.000274275 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 63 0 0 6.4e-05 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20127041 20127041 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr22:20127041G>A ENST00000334554.7 + 3 408 c.267G>A c.(265-267)ccG>ccA p.P89P ZDHHC8_ENST00000320602.7_Silent_p.P89P|ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000405930.3_Silent_p.P89P NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 89 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) TCCGGGCTCCGCTGTACAAGA 0.607000 61 44 0 0 0.000781405 0 0 COL4A5 1287 broad.mit.edu 37 X 107924156 107924156 + Nonsense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chrX:107924156G>T ENST00000328300.6 + 46 4301 c.4057G>T c.(4057-4059)Gag>Tag p.E1353* COL4A5_ENST00000361603.2_Nonsense_Mutation_p.E1347* NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1347 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AGCTGGCCCTGAGGGGGAACC 0.448000 Alport syndrome with Diffuse Leiomyomatosis 51 25 1.86277e-20 7.66219e-20 0.000781405 1 0 FGFR4 2264 broad.mit.edu 37 5 176519733 176519733 + Silent SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr5:176519733A>G ENST00000292408.4 + 8 1250 c.1005A>G c.(1003-1005)gcA>gcG p.A335A FGFR4_ENST00000502906.1_Silent_p.A335A|FGFR4_ENST00000393648.2_Silent_p.A335A|FGFR4_ENST00000393637.1_Silent_p.A335A|FGFR4_ENST00000292410.3_Silent_p.A335A NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 335 Ig-like C2-type 3. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CCTGCCTCGCAGGCAATTCCA 0.637000 TSP Lung(9;0.080) 23 31 0 0 0.000720815 0 0 CT47B1 643311 broad.mit.edu 37 X 120008850 120008850 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chrX:120008850C>G ENST00000371311.3 - 1 929 c.675G>C c.(673-675)gaG>gaC p.E225D NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 225 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 ctgGGGGTTTCTCATCTGCGG 0.701000 7 128 0 0 0.000157383 0 0 PZP 5858 broad.mit.edu 37 12 9353588 9353588 + Silent SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr12:9353588G>C ENST00000261336.2 - 6 598 c.570C>G c.(568-570)tcC>tcG p.S190S PZP_ENST00000381997.2_Silent_p.S59S NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 AGAGGGGAAAGGACAACTGAT 0.498000 27 130 0 0 0.00106085 0 0 SYNE2 23224 broad.mit.edu 37 14 64468762 64468762 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr14:64468762A>T ENST00000358025.3 + 29 3979 c.3749A>T c.(3748-3750)cAt>cTt p.H1250L SYNE2_ENST00000344113.4_Missense_Mutation_p.H1250L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.H1250L NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1250 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAGGGATTTCATCTCATTGAT 0.418000 33 81 0 0 0.00178596 0 0 CHST4 10164 broad.mit.edu 37 16 71570812 71570812 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr16:71570812G>A ENST00000338482.5 + 3 575 c.232G>A c.(232-234)Gtg>Atg p.V78M RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.V78M|CHST4_ENST00000572450.1_Missense_Mutation_p.V78M|ZNF19_ENST00000568446.1_Intron Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 78 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 CGCCTGGCACGTGTGGATGAC 0.577000 30 62 0 0 0.00209593 0 0 MTOR 2475 broad.mit.edu 37 1 11298657 11298657 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:11298657A>G ENST00000361445.4 - 12 1880 c.1804T>C c.(1804-1806)Ttt>Ctt p.F602L NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 602 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TGGCGAACAAATTGGGTCAGA 0.532000 8 5 0 0 0.000157383 0 0 LPPR4 9890 broad.mit.edu 37 1 99772515 99772515 + Silent SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:99772515T>C ENST00000370185.3 + 7 2738 c.2241T>C c.(2239-2241)acT>acC p.T747T LPPR4_ENST00000457765.1_Silent_p.T689T|LPPR4_ENST00000370184.1_Silent_p.T589T NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 747 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCGAAAACACTAGAAATATCT 0.473000 23 55 0 0 0.00278032 0 0 PLCB4 5332 broad.mit.edu 37 20 9364994 9364994 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr20:9364994G>A ENST00000378501.2 + 11 1015 c.1000G>A c.(1000-1002)Ggc>Agc p.G334S PLCB4_ENST00000334005.3_Missense_Mutation_p.G334S|PLCB4_ENST00000278655.4_Missense_Mutation_p.G334S|PLCB4_ENST00000414679.2_Missense_Mutation_p.G334S|PLCB4_ENST00000378473.3_Missense_Mutation_p.G334S|PLCB4_ENST00000378493.1_Missense_Mutation_p.G334S|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 334 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTATCTCACTGGCAGACAGTT 0.463000 35 71 0 0 0.000692331 0 0 NBAS 51594 broad.mit.edu 37 2 15415923 15415923 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr2:15415923C>T ENST00000281513.5 - 44 5434 c.5409G>A c.(5407-5409)ctG>ctA p.L1803L NBAS_ENST00000441750.1_Silent_p.L1683L NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1803 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTTCATCTGTCAGCTTTTTGT 0.363000 6 93 0 0 0.00116845 0 0 CFHR4 10877 broad.mit.edu 37 1 196876522 196876522 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:196876522G>A ENST00000367416.2 + 5 827 c.690G>A c.(688-690)ctG>ctA p.L230L CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 AAGTGTATCTGCCATGGTCAA 0.428000 6 61 0 0 0.00116845 0 0 RRAGD 58528 broad.mit.edu 37 6 90097155 90097155 + Nonsense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr6:90097155G>T ENST00000369415.4 - 2 579 c.303C>A c.(301-303)tgC>tgA p.C101* RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.2_Intron NM_021244.4 NP_067067.1 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 101 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity p.C101C(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) CATCTTCCCGGCATATCTTAT 0.428000 98 190 5.01286e-43 2.08982e-42 0.000781405 1 0 ICAM2 3384 broad.mit.edu 37 17 62081229 62081229 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr17:62081229G>T ENST00000412356.1 - 5 778 c.424C>A c.(424-426)Ctg>Atg p.L142M ICAM2_ENST00000418105.1_Missense_Mutation_p.L142M|ICAM2_ENST00000581417.1_5'UTR|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.L142M|ICAM2_ENST00000579687.1_Missense_Mutation_p.L142M|ICAM2_ENST00000578892.1_Missense_Mutation_p.L118M|ICAM2_ENST00000578379.1_Missense_Mutation_p.L41M|ICAM2_ENST00000449662.2_Missense_Mutation_p.L142M NM_001099786.1 NP_001093256.1 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 142 Ig-like C2-type 2. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 AGGCTGTCCAGGGGCTCCACG 0.607000 7 45 0.000157383 0.000588518 0.000157383 1 0 LRP1B 53353 broad.mit.edu 37 2 141299370 141299370 + Silent SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr2:141299370A>T ENST00000389484.3 - 44 8336 c.7365T>A c.(7363-7365)gcT>gcA p.A2455A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2455 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATTGGCAACAGCTATGATTC 0.363000 TSP Lung(27;0.18) 9 137 0 0 0.000442599 0 0 ALKBH8 91801 broad.mit.edu 37 11 107431547 107431547 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr11:107431547C>T ENST00000428149.2 - 2 224 c.73G>A c.(73-75)Gcc>Acc p.A25T ALKBH8_ENST00000389568.3_Missense_Mutation_p.A25T|ALKBH8_ENST00000417449.2_Missense_Mutation_p.A28T|ALKBH8_ENST00000429370.1_Missense_Mutation_p.A25T|ALKBH8_ENST00000530933.1_5'UTR NM_138775.2 NP_620130.2 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 (E. coli) 25 response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide 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|protein binding|RNA binding|tRNA (uracil) methyltransferase activity breast(2)|large_intestine(2)|lung(5) 9 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) GTATGCTTGGCTTTAATCTGT 0.348000 13 29 0 0 0.00185496 0 0 CEACAM18 729767 broad.mit.edu 37 19 51984689 51984689 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr19:51984689T>C ENST00000396477.4 + 3 464 c.443T>C c.(442-444)cTg>cCg p.L148P CEACAM18_ENST00000451626.1_Missense_Mutation_p.L209P NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 209 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GCCAGCTCCCTGGTGGAGAAC 0.507000 27 23 0 0 0.00106085 0 0 XIRP2 129446 broad.mit.edu 37 2 168115072 168115072 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr2:168115072G>T ENST00000409728.1 + 11 2204 c.2115G>T c.(2113-2115)gaG>gaT p.E705D XIRP2_ENST00000409605.1_Missense_Mutation_p.E450D|XIRP2_ENST00000409043.1_Missense_Mutation_p.E672D|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.E672D|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.E705D|XIRP2_ENST00000295237.9_3'UTR NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTGAAAAGGAGAAAAATGAAA 0.348000 5 24 1.23904e-05 4.66151e-05 0.000602214 1 0 C3AR1 719 broad.mit.edu 37 12 8211391 8211391 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr12:8211391C>T ENST00000307637.4 - 2 1594 c.1391G>A c.(1390-1392)cGt>cAt p.R464H NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 464 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) GTGGGTGGAACGTGTGAGCTC 0.473000 34 91 0 0 0.00058488 0 0 LRRC28 123355 broad.mit.edu 37 15 99901641 99901641 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr15:99901641G>A ENST00000301981.3 + 8 1036 c.796G>A c.(796-798)Gag>Aag p.E266K LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.E266K|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.E197K NM_144598.2 NP_653199.2 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 266 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) CATAGGGACGGAGCATGATCA 0.522000 OREG0023509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 63 0 0 0.000781405 0 0 ASMT 438 broad.mit.edu 37 X 1752052 1752052 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chrX:1752052G>C ENST00000381241.3 + 7 855 c.656G>C c.(655-657)gGa>gCa p.G219A ASMT_ENST00000381229.4_Missense_Mutation_p.G191A|ASMT_ENST00000381233.3_Intron|RP13-297E16.3_ENST00000509780.1_RNA NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 191 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGTGGGGCTGGAGCTCTGGCT 0.537000 39 172 0 0 0.00148497 0 0 ZNF479 90827 broad.mit.edu 37 7 57188238 57188238 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr7:57188238C>G ENST00000331162.4 - 5 1154 c.884G>C c.(883-885)aGa>aCa p.R295T NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R295I(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTTGTAGGGTCTCTCTCCAGT 0.473000 6 70 0 0 0.000274275 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834842 27834842 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr6:27834842G>C ENST00000331442.3 - 1 517 c.466C>G c.(466-468)Ccg>Gcg p.P156A NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 156 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 GCCTTCTTCGGAGTCTTCTTC 0.602000 5 231 0 0 0.00116845 0 0 CACNA1B 774 broad.mit.edu 37 9 140911625 140911625 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr9:140911625A>T ENST00000277550.3 + 3 175 c.175A>T c.(175-177)Agc>Tgc p.S59C CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371372.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 766 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGTATCTCGCAGCTCATCTGT 0.473000 13 29 0 0 0.00136819 0 0 SPIDR 23514 broad.mit.edu 37 8 48614380 48614380 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr8:48614380A>G ENST00000297423.4 + 13 2255 c.1871A>G c.(1870-1872)aAg>aGg p.K624R SPIDR_ENST00000517693.1_Missense_Mutation_p.K99R|SPIDR_ENST00000518074.1_Missense_Mutation_p.K564R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.K554R NM_001080394.2 NP_001073863.1 scaffolding protein involved in DNA repair CCCATTTATAAGCTTTACCAG 0.428000 91 170 0 0 0.000781405 0 0 NDN 4692 broad.mit.edu 37 15 23931584 23931584 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr15:23931584A>G ENST00000331837.4 - 1 866 c.781T>C c.(781-783)Ttt>Ctt p.F261L NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 261 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GAGCCCCAAAAGAACTCGTAT 0.572000 Prader-Willi syndrome 5 56 0 0 0.00198382 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122958362 122958362 + Missense_Mutation SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr12:122958362C>A ENST00000543897.1 - 12 3447 c.1092G>T c.(1090-1092)gaG>gaT p.E364D ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E213D|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.E602D|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E364D Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 602 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) GTGATGTCACCTCAGAGTCTG 0.463000 7 250 0.00198382 0.00737359 0.00198382 1 0 OLFM4 10562 broad.mit.edu 37 13 53608558 53608558 + Missense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr13:53608558T>A ENST00000219022.2 + 2 358 c.280T>A c.(280-282)Ttt>Att p.F94I NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 94 cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) AGACACCACCTTTCCCGTGGA 0.443000 10 84 0 0 0.000673444 0 0 HERC2P3 283755 broad.mit.edu 37 15 20649492 20649492 + RNA SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr15:20649492C>G ENST00000428453.1 - 0 2706 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GAGTCGTCCTCTGTGTCCGAA 0.562000 38 137 0 0 0.000781405 0 0 NPC1L1 29881 broad.mit.edu 37 7 44556434 44556434 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr7:44556434G>A ENST00000289547.4 - 17 3523 c.3468C>T c.(3466-3468)ctC>ctT p.L1156L NPC1L1_ENST00000381160.3_Silent_p.L1129L|NPC1L1_ENST00000546276.1_Silent_p.L1083L NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1156 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GGCCCAGCAGGAGGCAGGAGA 0.592000 14 42 0 0 0.000308642 0 0 PRB4 5545 broad.mit.edu 37 12 11461798 11461798 + Missense_Mutation SNP C C T rs77336955 TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr12:11461798C>T ENST00000279575.1 - 3 152 c.119G>A c.(118-120)cGc>cAc p.R40H PRB4_ENST00000535904.1_Missense_Mutation_p.R40H|PRB4_ENST00000445719.2_Missense_Mutation_p.R40H NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 40 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region p.R40P(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 TCCTTGTGGGCGTCGTCCTTC 0.552000 HNSCC(22;0.051) 33 444 0 0 0.000953801 0 0 POM121 9883 broad.mit.edu 37 7 72413634 72413634 + Silent SNP G G A rs139238552 byFrequency TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr7:72413634G>A ENST00000395270.1 + 14 3348 c.2307G>A c.(2305-2307)acG>acA p.T769T POM121_ENST00000446813.1_Silent_p.T769T|POM121_ENST00000358357.3_Silent_p.T769T|POM121_ENST00000257622.4_Silent_p.T769T|POM121_ENST00000434423.2_Silent_p.T1034T NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1034 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) GCGGTGCCACGCACTCGGCGT 0.652000 18 154 0 0 0.00229938 0 0 BYSL 705 broad.mit.edu 37 6 41889501 41889501 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr6:41889501G>C ENST00000230340.4 + 1 576 c.201G>C c.(199-201)gaG>gaC p.E67D NM_004053.3 NP_004044.3 Q13895 BYST_HUMAN bystin-like 67 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1) 8 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGCAACAGGAGGAACTCGAGG 0.677000 OREG0017436 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 26 0 0 0.000308642 0 0 EEF1D 1936 broad.mit.edu 37 8 144671365 144671365 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr8:144671365C>T ENST00000532741.1 - 1 1265 c.1037G>A c.(1036-1038)gGg>gAg p.G346E EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.G296E|EEF1D_ENST00000423316.2_Missense_Mutation_p.G296E|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000531621.1_Intron P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GGGGGCCTCCCCATCGGCCCG 0.716000 4 18 0 0 0.00024832 0 0 CYFIP2 26999 broad.mit.edu 37 5 156741393 156741393 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr5:156741393G>A ENST00000347377.6 + 12 1583 c.1152G>A c.(1150-1152)gaG>gaA p.E384E CYFIP2_ENST00000435847.2_Silent_p.E58E|CYFIP2_ENST00000318218.6_Silent_p.E384E|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Silent_p.E309E|CYFIP2_ENST00000521420.1_Silent_p.E358E|CYFIP2_ENST00000522463.1_Silent_p.E188E|CYFIP2_ENST00000377576.3_Silent_p.E384E NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 384 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGTCAGACGAGGAGTATCGCG 0.567000 22 35 0 0 0.00047179 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26205025 26205025 + Silent SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr6:26205025C>A ENST00000360441.4 + 1 168 c.153C>A c.(151-153)atC>atA p.I51I NM_003545.3 NP_003536.1 P62805 H4_HUMAN histone cluster 1, H4e 51 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 18 all_hematologic(11;0.196) CTGGTCTCATCTACGAGGAGA 0.562000 38 68 6.99958e-10 2.75079e-09 0.00148497 1 0 RIMS2 9699 broad.mit.edu 37 8 104987601 104987601 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr8:104987601C>G ENST00000507740.1 + 13 2406 c.2170C>G c.(2170-2172)Ctt>Gtt p.L724V RIMS2_ENST00000406091.3_Missense_Mutation_p.L932V|RIMS2_ENST00000436393.2_Missense_Mutation_p.L710V|RIMS2_ENST00000262231.10_Missense_Mutation_p.L771V NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 994 PDZ. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGGTCGAGATCTTCAAAGCTC 0.358000 HNSCC(12;0.0054) 8 29 0 0 0.000157383 0 0 APBA1 320 broad.mit.edu 37 9 72131553 72131553 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr9:72131553C>T ENST00000265381.4 - 2 796 c.574G>A c.(574-576)Ggc>Agc p.G192S NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 192 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TCCTGGAGGCCGCCGTAGTCG 0.687000 5 26 0 0 0.000602214 0 0 IFT43 112752 broad.mit.edu 37 14 76549919 76549919 + Nonstop_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr14:76549919G>C ENST00000314067.6 + 9 660 c.626G>C c.(625-627)tGa>tCa p.*209S IFT43_ENST00000238628.6_Nonstop_Mutation_p.*214S NM_001102564.1 NP_001096034.1 Q96FT9 IFT43_HUMAN intraflagellar transport 43 homolog (Chlamydomonas) 0 cilium morphogenesis|intraflagellar retrograde transport endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 AGGCACACCTGAGCCCGTCAC 0.512000 6 57 0 0 0.00116845 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811511 5811511 + Silent SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chrX:5811511A>G ENST00000381095.3 - 6 2425 c.1798T>C c.(1798-1800)Ttg>Ctg p.L600L NLGN4X_ENST00000381092.1_Silent_p.L600L|NLGN4X_ENST00000275857.6_Silent_p.L600L|NLGN4X_ENST00000381093.2_Silent_p.L620L|NLGN4X_ENST00000538097.1_Silent_p.L600L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 600 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 ATCTCGTTCAAGTTGTGCAAA 0.483000 49 38 0 0 0.000781405 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473131 22473131 + RNA SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr15:22473131G>T ENST00000557788.2 - 0 139 ACTGCTGATGGAGCCACCAGA 0.612000 29 153 3.73988e-18 1.52815e-17 0.00106085 1 0 SLITRK1 114798 broad.mit.edu 37 13 84455394 84455394 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr13:84455394A>T ENST00000377084.2 - 1 1134 c.249T>A c.(247-249)aaT>aaA p.N83K NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 83 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AACTAACCGCATTATAAAAGT 0.463000 31 65 0 0 0.0024448 0 0 PRRC2B 84726 broad.mit.edu 37 9 134343088 134343088 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr9:134343088A>G ENST00000357304.4 + 12 1914 c.1859A>G c.(1858-1860)tAt>tGt p.Y620C PRRC2B_ENST00000405995.1_Missense_Mutation_p.Y620C|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.Y620C NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 620 Gln-rich. protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GAGTTCAAGTATCAGAAGTCC 0.557000 20 45 0 0 0.00047179 0 0 PIK3CG 5294 broad.mit.edu 37 7 106513012 106513012 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr7:106513012G>A ENST00000359195.3 + 3 2336 c.2026G>A c.(2026-2028)Gcc>Acc p.A676T PIK3CG_ENST00000440650.2_Missense_Mutation_p.A676T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A676T NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 676 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CCATGATAGCGCCCTTGCCAG 0.393000 78 116 0 0 0.000781405 0 0 SH2D4B 387694 broad.mit.edu 37 10 82363350 82363350 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr10:82363350C>T ENST00000339284.2 + 5 1089 c.659C>T c.(658-660)gCg>gTg p.A220V SH2D4B_ENST00000313455.4_Missense_Mutation_p.A171V|SH2D4B_ENST00000470604.2_Missense_Mutation_p.A219V NM_207372.2 NP_997255.2 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B 219 Glu-rich. endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) CGGTCCAAGGCGGCTGATGAG 0.662000 5 2 0 0 0.000602214 0 0 PHC1 1911 broad.mit.edu 37 12 9092018 9092018 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr12:9092018A>T ENST00000433083.2 + 14 2988 c.2843A>T c.(2842-2844)aAg>aTg p.K948M PHC1_ENST00000544916.1_Missense_Mutation_p.K993M|PHC1_ENST00000536844.1_Missense_Mutation_p.K599M|PHC1_ENST00000543824.1_Missense_Mutation_p.K993M P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 993 SAM. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 CCTGCCCTCAAGATCTGCGCC 0.488000 13 14 0 0 0.00244969 0 0 TMTC3 160418 broad.mit.edu 37 12 88589416 88589416 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr12:88589416A>G ENST00000266712.6 + 14 2955 c.2735A>G c.(2734-2736)aAt>aGt p.N912S NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 913 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 CGTATTTTAAATGGTGAATAA 0.333000 12 50 0 0 0.000978159 0 0 ZNF250 58500 broad.mit.edu 37 8 146107136 146107136 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr8:146107136C>G ENST00000292579.7 - 6 1563 c.1447G>C c.(1447-1449)Gaa>Caa p.E483Q ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.E478Q NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) TTGCCACATTCTGTGCACTGG 0.552000 7 41 0 0 0.000157383 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 4 64 0 0 0.00116845 0 0 COL22A1 169044 broad.mit.edu 37 8 139601580 139601580 + Silent SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr8:139601580G>A ENST00000303045.6 - 65 5243 c.4797C>T c.(4795-4797)ccC>ccT p.P1599P COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.P1579P NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1599 Collagen-like 16.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTGGGGGACCGGGAGGTCCTG 0.622000 HNSCC(7;0.00092) 7 36 0 0 0.000442599 0 0 ROS1 6098 broad.mit.edu 37 6 117724426 117724426 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr6:117724426C>T ENST00000368508.3 - 6 651 c.453G>A c.(451-453)ccG>ccA p.P151P ROS1_ENST00000368507.3_Silent_p.P160P|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 151 Fibronectin type-III 1. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CCACATAGGACGGTCTGGACA 0.473000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 11 26 0 0 0.000978159 0 0 PTPN21 11099 broad.mit.edu 37 14 88945598 88945598 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr14:88945598C>G ENST00000556564.1 - 13 2461 c.2177G>C c.(2176-2178)cGg>cCg p.R726P PTPN21_ENST00000328736.3_Missense_Mutation_p.R726P NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 726 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AGGAGGCGCCCGGGCCCCGCT 0.701000 3 20 0 0 6.4e-05 0 0 CMYA5 202333 broad.mit.edu 37 5 79027402 79027402 + Silent SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr5:79027402T>C ENST00000446378.2 + 2 2845 c.2814T>C c.(2812-2814)gaT>gaC p.D938D NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 938 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CAGAAGAAGATCAAGAAGACA 0.413000 48 39 0 0 0.000781405 0 0 OR2T12 127064 broad.mit.edu 37 1 248458107 248458107 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:248458107C>T ENST00000317996.1 - 1 773 c.774G>A c.(772-774)atG>atA p.M258I NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ATTTGGGTCTCATATAGGTAA 0.483000 50 98 0 0 0.000781405 0 0 KDM6B 23135 broad.mit.edu 37 17 7752094 7752094 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr17:7752094G>A ENST00000254846.5 + 11 2877 c.2488G>A c.(2488-2490)Ggg>Agg p.G830R KDM6B_ENST00000448097.2_Missense_Mutation_p.G830R NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 830 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CACCCGGCCTGGGCCCTTGCC 0.682000 9 131 0 0 0.000442599 0 0 BPNT1 10380 broad.mit.edu 37 1 220253139 220253139 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:220253139G>C ENST00000469520.2 - 3 499 c.50C>G c.(49-51)tCt>tGt p.S17C BPNT1_ENST00000354807.3_Missense_Mutation_p.S17C|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.S17C|BPNT1_ENST00000414869.2_Missense_Mutation_p.S17C O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 17 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1) 14 GBM - Glioblastoma multiforme(131;0.0558) TTGAGCAATAGAATATGCGGA 0.413000 8 56 0 0 0.000274275 0 0 LEMD3 23592 broad.mit.edu 37 12 65564805 65564805 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr12:65564805C>G ENST00000308330.2 + 1 1455 c.1429C>G c.(1429-1431)Ctc>Gtc p.L477V LEMD3_ENST00000541171.1_Intron NM_001167614.1|NM_014319.4 NP_001161086.1|NP_055134.2 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 477 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) GTCGATGTTTCTCTTAACTGC 0.478000 23 38 0 0 0.00188189 0 0 NDNF 79625 broad.mit.edu 37 4 121958183 121958183 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr4:121958183A>T ENST00000379692.4 - 4 1469 c.943T>A c.(943-945)Ttt>Att p.F315I NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 315 Fibronectin type-III 1. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 TTGACCACAAATACATCAAAG 0.453000 15 71 0 0 0.00074312 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283873 33283873 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr6:33283873G>A ENST00000431845.2 - 2 972 c.821C>T c.(820-822)gCa>gTa p.A274V ZBTB22_ENST00000418724.1_Missense_Mutation_p.A274V NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 AGGAACCACTGCCCCCCTCCC 0.607000 12 45 0 0 0.000978159 0 0 ZRANB3 84083 broad.mit.edu 37 2 136111147 136111147 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr2:136111147C>G ENST00000401392.1 - 4 444 c.232G>C c.(232-234)Gag>Cag p.E78Q ZRANB3_ENST00000536680.1_Missense_Mutation_p.E78Q|ZRANB3_ENST00000264159.6_Missense_Mutation_p.E78Q Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 78 Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) GGCCATTCCTCTTTATAGAAG 0.343000 3 44 0 0 6.4e-05 0 0 WDR64 128025 broad.mit.edu 37 1 241958516 241958516 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:241958516G>C ENST00000366552.2 + 25 3182 c.2975G>C c.(2974-2976)aGa>aCa p.R992T WDR64_ENST00000437684.2_Missense_Mutation_p.R825T NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 992 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CAGATTCGAAGATATCCCTTG 0.428000 28 117 0 0 0.00127121 0 0 EEF1A2 1917 broad.mit.edu 37 20 62122079 62122079 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr20:62122079G>A ENST00000217182.3 - 6 947 c.782C>T c.(781-783)aCg>aTg p.T261M EEF1A2_ENST00000298049.7_Missense_Mutation_p.T261M NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 261 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CACGGGCACCGTGCCAATGCC 0.647000 18 41 0 0 0.000958276 0 0 SYK 6850 broad.mit.edu 37 9 93650902 93650902 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr9:93650902A>G ENST00000375754.4 + 13 1976 c.1828A>G c.(1828-1830)Aca>Gca p.T610A SYK_ENST00000375751.4_Missense_Mutation_p.T587A|SYK_ENST00000375746.1_Missense_Mutation_p.T610A|SYK_ENST00000375747.1_Missense_Mutation_p.T587A NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 610 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TCTGTGCTGGACATACGAGTG 0.463000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 7 18 0 0 0.00198382 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889583 23889583 + Missense_Mutation SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr15:23889583A>G ENST00000532292.1 - 1 1592 c.1498T>C c.(1498-1500)Tcc>Ccc p.S500P NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TCTAAATAGGATGCCACCAAA 0.423000 5 40 0 0 0.000602214 0 0 FBN3 84467 broad.mit.edu 37 19 8191467 8191467 + Nonsense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr19:8191467C>T ENST00000600128.1 - 20 2853 c.2439G>A c.(2437-2439)tgG>tgA p.W813* FBN3_ENST00000601739.1_Nonsense_Mutation_p.W813*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.W813* Q75N90 FBN3_HUMAN fibrillin 3 813 TB 4. 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 GGATCTTCAGCCAGCAGGTGC 0.677000 6 12 0 0 0.000157383 0 0 ANKRD17 26057 broad.mit.edu 37 4 73956863 73956863 + Missense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr4:73956863T>A ENST00000358602.4 - 29 6598 c.6482A>T c.(6481-6483)cAg>cTg p.Q2161L ANKRD17_ENST00000330838.6_Missense_Mutation_p.Q1910L|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q2048L NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 2161 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CATTGGTGTCTGAGGCATAGG 0.532000 39 170 0 0 0.00170553 0 0 CT47B1 643311 broad.mit.edu 37 X 120008849 120008849 + Nonsense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chrX:120008849T>A ENST00000371311.3 - 1 930 c.676A>T c.(676-678)Aaa>Taa p.K226* NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 226 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 tctgGGGGTTTCTCATCTGCG 0.706000 6 136 0 0 0.00198382 0 0 DPP10 57628 broad.mit.edu 37 2 116510763 116510763 + Missense_Mutation SNP A A C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr2:116510763A>C ENST00000410059.1 + 11 1444 c.964A>C c.(964-966)Act>Cct p.T322P DPP10_ENST00000310323.8_Missense_Mutation_p.T315P|DPP10_ENST00000393147.2_Missense_Mutation_p.T326P|DPP10_ENST00000409163.1_Missense_Mutation_p.T272P NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 322 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 ATACTATATCACTATGGTTAA 0.358000 5 34 0 0 0.00116845 0 0 OR4D5 219875 broad.mit.edu 37 11 123811175 123811175 + Silent SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr11:123811175T>C ENST00000307033.2 + 1 926 c.852T>C c.(850-852)ccT>ccC p.P284P NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TGCTGAATCCTGCCATCTATA 0.502000 22 86 0 0 0.00278032 0 0 WASF1 8936 broad.mit.edu 37 6 110421867 110421867 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr6:110421867T>C ENST00000392589.1 - 11 2374 c.1538A>G c.(1537-1539)aAa>aGa p.K513R WASF1_ENST00000392588.1_Missense_Mutation_p.K513R|WASF1_ENST00000392587.2_Missense_Mutation_p.K513R|WASF1_ENST00000359451.2_Missense_Mutation_p.K513R|WASF1_ENST00000392586.1_Missense_Mutation_p.K513R NM_003931.2 NP_003922.1 Q92558 WASF1_HUMAN WAS protein family, member 1 513 WH2. actin filament polymerization|cellular component movement actin cytoskeleton actin binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) CTCTTCTACTTTGCGTAGCTG 0.363000 14 27 0 0 0.00074312 0 0 ZNF250 58500 broad.mit.edu 37 8 146107269 146107269 + Silent SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr8:146107269C>G ENST00000292579.7 - 6 1430 c.1314G>C c.(1312-1314)ctG>ctC p.L438L ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Silent_p.L433L NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) GGTGCTGGATCAGGTGTGAGT 0.567000 11 62 0 0 0.00136819 0 0 NXF1 10482 broad.mit.edu 37 11 62569082 62569082 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr11:62569082C>T ENST00000531709.2 - 7 774 c.661G>A c.(661-663)Gat>Aat p.D221N NXF1_ENST00000294172.2_Missense_Mutation_p.D221N|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000532297.1_Missense_Mutation_p.D221N|NXF1_ENST00000439713.2_Missense_Mutation_p.D221N NM_001081491.1 NP_001074960.1 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 221 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGGAGCCATCGTATCGTTTG 0.507000 18 170 0 0 0.00074312 0 0 GAP43 2596 broad.mit.edu 37 3 115395102 115395102 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr3:115395102C>T ENST00000393780.3 + 3 849 c.381C>T c.(379-381)gcC>gcT p.A127A GAP43_ENST00000305124.6_Silent_p.A91A NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 91 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) CCGAAGCAGCCCCAGCCACTG 0.592000 9 50 0 0 0.00185496 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 6 13 0 0 0.00198382 0 0 FOXO1 2308 broad.mit.edu 37 13 41134865 41134865 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr13:41134865C>T ENST00000379561.5 - 2 1147 c.763G>A c.(763-765)Gca>Aca p.A255T NM_002015.3 NP_002006.2 Q12778 FOXO1_HUMAN forkhead box O1 255 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) TCCATGGATGCAGCTCTTCTC 0.517000 18 149 0 0 0.000566183 0 0 POLR2G 5436 broad.mit.edu 37 11 62532822 62532822 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr11:62532822C>T ENST00000301788.7 + 5 449 c.344C>T c.(343-345)tCa>tTa p.S115L NM_002696.2 NP_002687.1 P62487 RPB7_HUMAN polymerase (RNA) II (DNA directed) polypeptide G 115 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|protein binding|RNA binding p.S115L(1) lung(3) 3 TCCATCCCTTCAGAGATGGAG 0.458000 28 288 0 0 0.000878237 0 0 NR1H2 7376 broad.mit.edu 37 19 50881485 50881485 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr19:50881485C>T ENST00000253727.5 + 5 496 c.261C>T c.(259-261)tgC>tgT p.C87C NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Silent_p.C87C|NR1H2_ENST00000598168.1_Silent_p.C87C|NR1H2_ENST00000593926.1_Silent_p.C87C|NR1H2_ENST00000542413.1_5'UTR NM_007121.5 NP_009052.3 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 87 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) ACGAGCTTTGCCGTGTCTGTG 0.637000 5 161 0 0 0.000602214 0 0 OR10H2 26538 broad.mit.edu 37 19 15839701 15839701 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr19:15839701C>T ENST00000305899.3 + 1 868 c.848C>T c.(847-849)aCg>aTg p.T283M NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GCAGTCCTCACGCCCTTCCTC 0.547000 29 119 0 0 0.00209593 0 0 PTPRK 5796 broad.mit.edu 37 6 128404886 128404886 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr6:128404886G>C ENST00000368227.3 - 9 1915 c.1549C>G c.(1549-1551)Cca>Gca p.P517A PTPRK_ENST00000368215.3_Missense_Mutation_p.P517A|PTPRK_ENST00000368210.3_Missense_Mutation_p.P517A|PTPRK_ENST00000368213.5_Missense_Mutation_p.P517A|PTPRK_ENST00000532331.1_Missense_Mutation_p.P517A|PTPRK_ENST00000368226.4_Missense_Mutation_p.P517A|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368207.3_Missense_Mutation_p.P517A|PTPRK_ENST00000524481.1_5'UTR Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 517 Fibronectin type-III 3. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.P517S(1) PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ATTCCATTTGGATCCAAAGGT 0.368000 23 99 0 0 0.00188189 0 0 OR2T6 254879 broad.mit.edu 37 1 248551197 248551197 + Silent SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:248551197C>A ENST00000355728.2 + 1 288 c.288C>A c.(286-288)gcC>gcA p.A96A NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A96E(1)|p.A96A(1) endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTTTCATCGCCTGCACTGCTC 0.532000 30 75 3.65163e-15 1.47258e-14 0.00106085 1 0 PPFIA2 8499 broad.mit.edu 37 12 81777935 81777935 + Missense_Mutation SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr12:81777935A>T ENST00000550584.2 - 8 1146 c.851T>A c.(850-852)aTg>aAg p.M284K RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000548586.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.M185K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.M284K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M266K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.M131K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.M266K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000407050.4_Missense_Mutation_p.M210K NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 210 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CATCTGGGCCATTTCATAGTT 0.413000 10 25 0 0 0.000442599 0 0 PRPF4B 8899 broad.mit.edu 37 6 4037761 4037761 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr6:4037761C>T ENST00000337659.6 + 3 1469 c.1369C>T c.(1369-1371)Cgt>Tgt p.R457C PRPF4B_ENST00000538861.1_Missense_Mutation_p.R443C NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 457 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) CCCACTCAGACGTAGCAGGTC 0.448000 20 41 0 0 0.00188189 0 0 NINL 22981 broad.mit.edu 37 20 25459583 25459583 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr20:25459583T>C ENST00000278886.6 - 16 2250 c.2177A>G c.(2176-2178)cAt>cGt p.H726R NINL_ENST00000422516.1_Missense_Mutation_p.H726R NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 726 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GTGGCTGTGATGCCGCAGGGC 0.582000 33 73 0 0 0.00058488 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212521732 212521732 + Splice_Site SNP A A T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:212521732A>T ENST00000261461.2 + 7 1340 c.764_splice c.e7-1 p.I256_splice PPP2R5A_ENST00000537030.3_Splice_Site_p.I199_splice NM_006243.3 NP_006234.1 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B', alpha 256 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) TCCCTCCAGTATTATCAATGG 0.368000 28 67 0 0 0.000878237 0 0 EHD1 10938 broad.mit.edu 37 11 64627443 64627443 + Missense_Mutation SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr11:64627443C>A ENST00000320631.3 - 3 1122 c.868G>T c.(868-870)Gcc>Tcc p.A290S EHD1_ENST00000359393.2_Missense_Mutation_p.A290S NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 290 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding p.A290T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 TTCCTGAGGGCGGCGTTTCGG 0.637000 46 32 3.21987e-24 1.33333e-23 0.000781405 1 0 SCN1A 6323 broad.mit.edu 37 2 166901572 166901572 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr2:166901572C>G ENST00000423058.2 - 10 1660 c.1643G>C c.(1642-1644)aGg>aCg p.R548T SCN1A_ENST00000303395.4_Missense_Mutation_p.R548T|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R548T|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R548T|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 548 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGAGGAGTACCTCTTTTCATA 0.433000 44 82 0 0 0.0025221 0 0 DIAPH3 81624 broad.mit.edu 37 13 60413536 60413536 + Missense_Mutation SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr13:60413536C>A ENST00000400324.4 - 23 3004 c.2784G>T c.(2782-2784)caG>caT p.Q928H DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.Q858H|DIAPH3_ENST00000400320.1_Missense_Mutation_p.Q882H|DIAPH3_ENST00000400330.1_Missense_Mutation_p.Q928H|DIAPH3_ENST00000377908.2_Missense_Mutation_p.Q917H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.Q928H NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 928 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GCTGTTGAAGCTGCCTTCCCA 0.383000 16 38 1.15088e-07 4.46598e-07 0.000422831 1 0 DMP1 1758 broad.mit.edu 37 4 88584472 88584472 + Nonstop_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr4:88584472G>C ENST00000339673.6 + 6 1641 c.1542G>C c.(1540-1542)taG>taC p.*514Y RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Nonstop_Mutation_p.*498Y NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 0 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) ACGGCTATTAGCATCAGCTGT 0.373000 32 134 0 0 0.0024448 0 0 DOCK5 80005 broad.mit.edu 37 8 25154152 25154152 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr8:25154152C>T ENST00000276440.7 + 7 638 c.594C>T c.(592-594)atC>atT p.I198I DOCK5_ENST00000481100.1_Silent_p.I198I NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 198 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) AGGAAAAGATCCAAGAAGAGA 0.448000 8 14 0 0 0.000157383 0 0 PFKFB2 5208 broad.mit.edu 37 1 207236550 207236550 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:207236550T>C ENST00000367080.3 + 5 495 c.371T>C c.(370-372)aTt>aCt p.I124T PFKFB2_ENST00000367079.2_Missense_Mutation_p.I124T|PFKFB2_ENST00000411990.2_Missense_Mutation_p.I26T|PFKFB2_ENST00000545806.1_Missense_Mutation_p.I91T NM_006212.2 NP_006203.2 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 124 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 20 Prostate(682;0.19) AATGGTCAGATTGCGGTAAGC 0.532000 9 98 0 0 0.000274275 0 0 PGM3 5238 broad.mit.edu 37 6 83896760 83896760 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr6:83896760C>T ENST00000513973.1 - 4 540 c.424G>A c.(424-426)Gat>Aat p.D142N PGM3_ENST00000512866.1_Missense_Mutation_p.D142N|PGM3_ENST00000506587.1_Missense_Mutation_p.D170N|PGM3_ENST00000283977.4_Missense_Mutation_p.D61N NM_001199918.1|NM_015599.2 NP_001186847.1|NP_056414.1 O95394 AGM1_HUMAN phosphoglucomutase 3 142 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 18 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) GTCACACCATCTATTACAGAT 0.353000 20 61 0 0 0.000586117 0 0 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr17:7578275G>A ENST00000420246.2 - 6 706 c.574C>T c.(574-576)Cag>Tag p.Q192* TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 192 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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) ATAAGATGCTGAGGAGGGGCC 0.557000 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 21 0 0 0.00244969 0 0 MYSM1 114803 broad.mit.edu 37 1 59131251 59131251 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:59131251T>C ENST00000472487.1 - 17 2123 c.2084A>G c.(2083-2085)tAt>tGt p.Y695C MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 695 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) ATTTCGATTATAGGGACTAAC 0.333000 9 67 0 0 0.000673444 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33885692 33885692 + Missense_Mutation SNP A A C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr3:33885692A>C ENST00000307296.3 + 11 1825 c.1448A>C c.(1447-1449)gAa>gCa p.E483A PDCD6IP_ENST00000457054.2_Missense_Mutation_p.E488A Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 483 Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 CCATCCAATGAACTGTATAAG 0.343000 4 63 0 0 0.000602214 0 0 STK31 56164 broad.mit.edu 37 7 23825129 23825129 + Silent SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr7:23825129A>G ENST00000354639.3 + 18 2576 c.2112A>G c.(2110-2112)gaA>gaG p.E704E STK31_ENST00000433467.2_Silent_p.E727E|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.E704E|STK31_ENST00000355870.3_Silent_p.E727E NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 727 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGAGCTTGGAACGAGATCTTC 0.403000 35 90 0 0 0.000814825 0 0 TRPA1 8989 broad.mit.edu 37 8 72948640 72948640 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr8:72948640G>A ENST00000262209.4 - 21 2645 c.2438C>T c.(2437-2439)aCg>aTg p.T813M RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 813 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GATGCCCGTCGTGTAGATAAT 0.363000 14 53 0 0 0.00185496 0 0 REPS1 85021 broad.mit.edu 37 6 139266690 139266690 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr6:139266690T>C ENST00000450536.2 - 3 996 c.422A>G c.(421-423)aAg>aGg p.K141R REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 141 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TACGGATCCCTTTTTCACTTG 0.478000 3 138 0 0 0.000602214 0 0 THSD7A 221981 broad.mit.edu 37 7 11675953 11675953 + Nonsense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr7:11675953T>A ENST00000423059.3 - 2 1077 c.826A>T c.(826-828)Aga>Tga p.R276* NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 276 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTCCCGCGTCTCCTTGCTTGT 0.537000 HNSCC(18;0.044) 32 95 0 0 0.0024448 0 0 NMT2 9397 broad.mit.edu 37 10 15151773 15151773 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr10:15151773C>G ENST00000378165.4 - 11 1484 c.1404G>C c.(1402-1404)aaG>aaC p.K468N NMT2_ENST00000378150.1_Missense_Mutation_p.K455N|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.K455N|NMT2_ENST00000540259.1_Missense_Mutation_p.K280N|NMT2_ENST00000466201.1_5'UTR NM_004808.2 NP_004799.1 O60551 NMT2_HUMAN N-myristoyltransferase 2 468 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3) 21 CTATACCAAACTTGAGTTTTT 0.328000 14 91 0 0 0.000566183 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361225 105361225 + Nonsense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr8:105361225C>T ENST00000297581.2 + 2 494 c.445C>T c.(445-447)Cag>Tag p.Q149* DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.Q149*|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 149 osteoclast differentiation cell surface|integral to membrane|plasma membrane TGAGGCAATTCAGTGGATTTA 0.418000 14 84 0 0 0.00244969 0 0 CSMD3 114788 broad.mit.edu 37 8 113988168 113988168 + Missense_Mutation SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr8:113988168C>A ENST00000297405.5 - 7 1484 c.1240G>T c.(1240-1242)Ggg>Tgg p.G414W CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.G414W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G374W NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 414 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 GGAGAGAGCCCGTCCTTGGAC 0.478000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 117 6.33239e-15 2.53707e-14 0.00152264 1 0 NKX2-4 644524 broad.mit.edu 37 20 21377938 21377938 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr20:21377938C>T ENST00000351817.4 - 1 728 c.100G>A c.(100-102)Gcg>Acg p.A34T NM_033176.1 NP_149416.1 Q9H2Z4 NKX24_HUMAN NK2 homeobox 4 34 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 ccgggtggcgcgccgTCCATG 0.731000 4 7 0 0 0.00024832 0 0 AGBL5 60509 broad.mit.edu 37 2 27278036 27278036 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr2:27278036C>T ENST00000360131.4 + 6 982 c.823C>T c.(823-825)Ccc>Tcc p.P275S AGBL5_ENST00000323064.8_Missense_Mutation_p.P275S NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 275 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTGATGATCCCCGGGCCCA 0.537000 29 189 0 0 0.001512 0 0 FAM47B 170062 broad.mit.edu 37 X 34961338 34961338 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chrX:34961338C>T ENST00000329357.5 + 1 426 c.390C>T c.(388-390)ccC>ccT p.P130P NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 130 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCAAGCATCCCTTGGCCATGT 0.557000 40 22 0 0 0.00148497 0 0 GPR98 84059 broad.mit.edu 37 5 90041015 90041015 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr5:90041015C>G ENST00000405460.2 + 51 10798 c.10702C>G c.(10702-10704)Cta>Gta p.L3568V NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3568 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTAATAGCTCTAGTGGGAGC 0.368000 40 134 0 0 0.00170553 0 0 PDHA2 5161 broad.mit.edu 37 4 96761919 96761919 + Silent SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr4:96761919C>T ENST00000295266.4 + 1 681 c.618C>T c.(616-618)ttC>ttT p.F206F NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 206 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CCGAAGCTTTCAATATGGCAG 0.443000 14 49 0 0 0.00244969 0 0 OR5F1 338674 broad.mit.edu 37 11 55761646 55761646 + Silent SNP C C A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr11:55761646C>A ENST00000278409.1 - 1 455 c.456G>T c.(454-456)ggG>ggT p.G152G NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) AGTTCAGCAACCCTGCAGCAA 0.507000 11 60 9.70103e-10 3.78831e-09 0.000673444 1 0 COL4A2 1284 broad.mit.edu 37 13 111102707 111102707 + Silent SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr13:111102707C>G ENST00000360467.5 + 20 1551 c.1245C>G c.(1243-1245)ccC>ccG p.P415P NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 415 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding p.P415P(1) NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TCGGAGACCCCGGCATCCCTG 0.637000 3 81 0 0 6.4e-05 0 0 SETDB1 9869 broad.mit.edu 37 1 150934615 150934615 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:150934615G>A ENST00000271640.5 + 17 3329 c.3139G>A c.(3139-3141)Gac>Aac p.D1047N SETDB1_ENST00000368969.4_Missense_Mutation_p.D1047N NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 1047 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GGACACTGACGACCGAAACAA 0.438000 73 177 0 0 0.000781405 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 45 0 0 6.4e-05 0 0 PAPPA 5069 broad.mit.edu 37 9 118997917 118997917 + Splice_Site SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr9:118997917G>T ENST00000328252.3 + 7 3101 c.e7+1 PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TCGTAGACATGTAAGTGCATT 0.507000 42 103 5.2432e-18 2.12833e-17 0.000781405 1 0 NID2 22795 broad.mit.edu 37 14 52520462 52520462 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr14:52520462G>T ENST00000216286.5 - 5 1263 c.1264C>A c.(1264-1266)Ccc>Acc p.P422T NID2_ENST00000541773.1_Missense_Mutation_p.P369T NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 422 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TCTGGGTAGGGCTGGATGCTT 0.552000 23 59 1.10513e-12 4.39914e-12 0.00229938 1 0 CNGA1 1259 broad.mit.edu 37 4 47939078 47939078 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr4:47939078C>T ENST00000402813.3 - 10 1782 c.1640G>A c.(1639-1641)cGc>cAc p.R547H CNGA1_ENST00000514170.1_Missense_Mutation_p.R478H|CNGA1_ENST00000544810.1_Missense_Mutation_p.R478H|CNGA1_ENST00000358519.4_Missense_Mutation_p.R478H|CNGA1_ENST00000420489.2_Missense_Mutation_p.R478H P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 478 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 AGCAAAAATGCGTACCTTTTT 0.378000 22 92 0 0 0.00188189 0 0 PYGO1 26108 broad.mit.edu 37 15 55838317 55838317 + Silent SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr15:55838317T>A ENST00000302000.6 - 3 1258 c.1164A>T c.(1162-1164)gcA>gcT p.A388A PYGO1_ENST00000563719.1_Silent_p.A388A NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 388 Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) AGCCCCATACTGCAGATGCTT 0.448000 25 60 0 0 0.00278032 0 0 SMG1 23049 broad.mit.edu 37 16 18875116 18875116 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr16:18875116T>C ENST00000446231.2 - 25 3963 c.3551A>G c.(3550-3552)aAt>aGt p.N1184S SMG1_ENST00000389467.3_Missense_Mutation_p.N1184S Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1184 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TCCTAAATAATTTATAACCTC 0.403000 13 36 0 0 0.00074312 0 0 KIZ-AS1 101929591 broad.mit.edu 37 20 21143094 21143094 + RNA SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr20:21143094G>A ENST00000591761.1 - 0 5142 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA AGAATACTGTGAATCTGAAAA 0.468000 8 20 0 0 0.000157383 0 0 SACS 26278 broad.mit.edu 37 13 23910945 23910945 + Missense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr13:23910945T>A ENST00000382298.3 - 10 7658 c.7070A>T c.(7069-7071)gAa>gTa p.E2357V SACS_ENST00000402364.1_Missense_Mutation_p.E1607V|SACS_ENST00000382292.3_Missense_Mutation_p.E2357V NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2357 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AGAAACCTTTTCTGAGTCAAC 0.333000 25 50 0 0 0.000720815 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723492 58723492 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr11:58723492C>G ENST00000300079.5 + 7 1044 c.994C>G c.(994-996)Cca>Gca p.P332A GLYATL1_ENST00000317391.4_Missense_Mutation_p.P301A|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 301 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) GAATCTAGTTCCATTTTAGAC 0.418000 3 86 0 0 0.000602214 0 0 WDR53 348793 broad.mit.edu 37 3 196281606 196281606 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr3:196281606T>C ENST00000332629.5 - 4 1120 c.553A>G c.(553-555)Atg>Gtg p.M185V WDR53_ENST00000433160.1_Missense_Mutation_p.M26V|WDR53_ENST00000429115.1_Missense_Mutation_p.M24V NM_182627.1 NP_872433.1 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 185 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 13 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) GGGCCTTCCATTTCTTCTGTT 0.438000 80 288 0 0 0.000781405 0 0 TSC22D1 8848 broad.mit.edu 37 13 45148997 45148997 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr13:45148997G>A ENST00000458659.2 - 1 1704 c.1214C>T c.(1213-1215)tCg>tTg p.S405L TSC22D1_ENST00000501704.2_Missense_Mutation_p.S405L NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 405 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TCTGAACCTCGAAGTGTTAAC 0.438000 25 83 0 0 0.000720815 0 0 OR1A2 26189 broad.mit.edu 37 17 3101177 3101177 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr17:3101177G>A ENST00000381951.1 + 1 365 c.365G>A c.(364-366)cGa>cAa p.R122Q NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 GCATACGATCGAGCTGTGGCC 0.483000 32 60 0 0 0.00209593 0 0 OR6C1 390321 broad.mit.edu 37 12 55714812 55714812 + Silent SNP T T G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr12:55714812T>G ENST00000379668.2 + 1 467 c.429T>G c.(427-429)gtT>gtG p.V143V NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 CACTGCTTGTTTTTACTTCTT 0.408000 6 22 0 0 0.00116845 0 0 BEND5 79656 broad.mit.edu 37 1 49202034 49202034 + Missense_Mutation SNP C C T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:49202034C>T ENST00000371833.3 - 5 1071 c.985G>A c.(985-987)Gca>Aca p.A329T AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 329 BEN. large_intestine(5)|lung(2)|skin(1) 8 ATCATAACTGCCAAGTTCTTC 0.483000 30 144 0 0 0.00283554 0 0 MEF2B 100271849 broad.mit.edu 37 19 19260222 19260222 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr19:19260222C>G ENST00000602424.2 - 5 797 c.71G>C c.(70-72)cGg>cCg p.R24P MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R41P|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000410050.1_Missense_Mutation_p.R24P|MEF2B_ENST00000409224.1_Missense_Mutation_p.R24P|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R24P|MEF2B_ENST00000409447.2_Missense_Mutation_p.R24P|MEF2B_ENST00000162023.5_Missense_Mutation_p.R24P|MEF2B_ENST00000424583.2_Missense_Mutation_p.R24P NM_005919.3 NP_005910.1 myocyte enhancer factor 2B breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) CCCGAACTTCCGCTTGGTGAA 0.562000 16 54 0 0 0.00074312 0 0 OR52A4P 390053 broad.mit.edu 37 11 5142746 5142746 + RNA SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr11:5142746G>A ENST00000498233.1 - 0 652 breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CAAAACCGGGGATCCCAATAA 0.418000 24 119 0 0 0.000878237 0 0 SCAF11 9169 broad.mit.edu 37 12 46315837 46315837 + Missense_Mutation SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr12:46315837T>C ENST00000465950.1 - 5 4650 c.3441A>G c.(3439-3441)atA>atG p.I1147M SCAF11_ENST00000369367.3_Missense_Mutation_p.I1462M|SCAF11_ENST00000419565.2_Missense_Mutation_p.I1462M|SCAF11_ENST00000549162.1_Missense_Mutation_p.I1270M|SCAF11_ENST00000550629.1_Intron Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1462 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 CATTTCAGCCTATGTTTTTTT 0.378000 3 148 0 0 6.4e-05 0 0 DNM1L 10059 broad.mit.edu 37 12 32886735 32886735 + Silent SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr12:32886735T>C ENST00000452533.2 + 13 1697 c.1533T>C c.(1531-1533)aaT>aaC p.N511N DNM1L_ENST00000547312.1_Silent_p.N511N|DNM1L_ENST00000414834.2_Silent_p.N308N|DNM1L_ENST00000358214.5_Silent_p.N524N|DNM1L_ENST00000549701.1_Silent_p.N511N|DNM1L_ENST00000553257.1_Silent_p.N524N|DNM1L_ENST00000266481.6_Silent_p.N511N|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Silent_p.N524N NM_012062.3|NM_012063.2 NP_036192.2|NP_036193.2 O00429 DNM1L_HUMAN dynamin 1-like 511 B domain.|Interaction with GSK3B. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGAACAATAATATAGAGGTAA 0.303000 53 148 0 0 0.000781405 0 0 ZNF43 7594 broad.mit.edu 37 19 21990434 21990434 + Missense_Mutation SNP G G A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr19:21990434G>A ENST00000594012.1 - 7 2901 c.2387C>T c.(2386-2388)cCt>cTt p.P796L ZNF43_ENST00000354959.4_Missense_Mutation_p.P802L|ZNF43_ENST00000598381.1_Missense_Mutation_p.P796L|ZNF43_ENST00000595461.1_Missense_Mutation_p.P796L NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 802 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) AAAAGTTTGAGGTGTTGTCAA 0.313000 9 43 0 0 0.000274275 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 58 0 0 6.4e-05 0 0 SYTL1 84958 broad.mit.edu 37 1 27677312 27677312 + Missense_Mutation SNP G G T TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:27677312G>T ENST00000543823.1 + 10 1495 c.1033G>T c.(1033-1035)Ggc>Tgc p.G345C SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.G333C Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 345 C2 1. exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CGAGCTTCAGGGCCGCGTGCT 0.642000 20 24 2.70639e-06 1.04365e-05 0.00229938 1 0 CDCA2 157313 broad.mit.edu 37 8 25365207 25365207 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr8:25365207C>G ENST00000330560.3 + 15 3502 c.3025C>G c.(3025-3027)Ctg>Gtg p.L1009V CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.L994V NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 1009 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AGAGAGCTCTCTGACTGCCTT 0.433000 15 99 0 0 0.000566183 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 62 0 0 6.4e-05 0 0 GBP7 388646 broad.mit.edu 37 1 89616146 89616146 + Missense_Mutation SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:89616146T>A ENST00000294671.2 - 6 876 c.738A>T c.(736-738)ttA>ttT p.L246F NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 246 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) CAACATGGAGTAAGAGTTTTT 0.383000 22 49 0 0 0.00229938 0 0 STEAP4 79689 broad.mit.edu 37 7 87913172 87913172 + Nonsense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr7:87913172G>C ENST00000380079.4 - 2 514 c.413C>G c.(412-414)tCa>tGa p.S138* AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Nonsense_Mutation_p.S138*|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.S138*|AC003991.3_ENST00000447758.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 138 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) AGCCCAGGCTGAGATGGTGTT 0.418000 404 101 0 0 0.000781405 0 0 CDH19 28513 broad.mit.edu 37 18 64172067 64172067 + Silent SNP T T A TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr18:64172067T>A ENST00000262150.2 - 12 2593 c.2301A>T c.(2299-2301)gcA>gcT p.A767A NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 767 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TTGACTGCACTGCAGAACCAA 0.388000 18 19 0 0 0.00188189 0 0 EGFR 1956 broad.mit.edu 37 7 55210124 55210124 + Missense_Mutation SNP C C G TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr7:55210124C>G ENST00000275493.2 + 2 411 c.234C>G c.(232-234)ttC>ttG p.F78L EGFR_ENST00000455089.1_Missense_Mutation_p.F78L|EGFR_ENST00000420316.2_Missense_Mutation_p.F78L|EGFR_ENST00000454757.2_Missense_Mutation_p.F25L|EGFR_ENST00000342916.3_Missense_Mutation_p.F78L|EGFR_ENST00000442591.1_Missense_Mutation_p.F78L|EGFR_ENST00000344576.2_Missense_Mutation_p.F78L NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 78 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATCTTTCCTTCTTAAAGGTTG 0.378000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 12 1031 0 0 0.000274275 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 5 7 0 0 0.00198382 0 0 FLG 2312 broad.mit.edu 37 1 152286148 152286148 + Missense_Mutation SNP G G C TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr1:152286148G>C ENST00000368799.1 - 3 1249 c.1214C>G c.(1213-1215)gCt>gGt p.A405G FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 405 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCAGATGAAGCTTGCCCGCG 0.562000 Ichthyosis 140 335 0 0 0.000781405 0 0 HEATR5B 54497 broad.mit.edu 37 2 37234297 37234298 + In_Frame_Ins INS - - AACCAG TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr2:37234297_37234298insAACCAG ENST00000233099.5 - 29 4767_4768 c.4672_4673insCTGGTT c.(4672-4674)aca>CTGGTTaca p.1557_1558insLV HEATR5B_ENST00000354531.2_In_Frame_Ins_p.1557_1558insLV NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1557 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) ACGTTTTTGTAAACCAGATATT 0.431 15 110 --- --- --- --- NRCAM 4897 broad.mit.edu 37 7 107820812 107820813 + Frame_Shift_Ins INS - - T rs139634064 TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr7:107820812_107820813insT ENST00000379028.3 - 25 3175_3176 c.2705_2706insA c.(2704-2706)aatfs p.N902fs NRCAM_ENST00000413765.2_Frame_Shift_Ins_p.N883fs|NRCAM_ENST00000379022.4_Frame_Shift_Ins_p.N902fs|NRCAM_ENST00000379024.4_Frame_Shift_Ins_p.N883fs|NRCAM_ENST00000351718.4_Frame_Shift_Ins_p.N886fs|NRCAM_ENST00000425651.2_Frame_Shift_Ins_p.N902fs Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 902 Fibronectin type-III 3. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 AGGTGAGGATCTTTTTCTCAAT 0.470 17 124 --- --- --- --- LRP12 29967 broad.mit.edu 37 8 105521276 105521276 + Frame_Shift_Del DEL G G - TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chr8:105521276delG ENST00000276654.5 - 3 271 c.163delC c.(163-165)gafs p.R55fs LRP12_ENST00000424843.2_Frame_Shift_Del_p.R36fs NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 55 CUB 1. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding p.R55G(1) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTGGTGCTCGTATTTGCTCT 0.408 16 103 --- --- --- --- NKAP 79576 broad.mit.edu 37 X 119077333 119077338 + In_Frame_Del DEL CGCGAC CGCGAC - TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 dfa4a23b-1955-4187-a694-d6e89adb396b g.chrX:119077333_119077338delCGCGAC ENST00000371410.3 - 1 397_402 c.231_236delGTCGCG c.(229-237)cgt>cg p.RSR77del NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 77 Ser-rich. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 CTCTCTAGAACGCGACCGCGAGCGTG 0.660 13 9 --- --- --- --- HEATR5B 54497 broad.mit.edu 37 2 37234297 37234298 + In_Frame_Ins INS - - AACCAG TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr2:37234297_37234298insAACCAG ENST00000233099.5 - 29 4767_4768 c.4672_4673insCTGGTT c.(4672-4674)aca>CTGGTTaca p.1557_1558insLV HEATR5B_ENST00000354531.2_In_Frame_Ins_p.1557_1558insLV NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1557 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) ACGTTTTTGTAAACCAGATATT 0.431 15 110 --- --- --- --- LOC101243545 101243545 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 3 5 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 5 11 --- --- --- --- NRCAM 4897 broad.mit.edu 37 7 107820812 107820813 + Frame_Shift_Ins INS - - T rs139634064 TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr7:107820812_107820813insT ENST00000379028.3 - 25 3175_3176 c.2705_2706insA c.(2704-2706)aatfs p.N902fs NRCAM_ENST00000351718.4_Frame_Shift_Ins_p.N886fs|NRCAM_ENST00000425651.2_Frame_Shift_Ins_p.N902fs|NRCAM_ENST00000413765.2_Frame_Shift_Ins_p.N883fs|NRCAM_ENST00000379022.4_Frame_Shift_Ins_p.N902fs|NRCAM_ENST00000379024.4_Frame_Shift_Ins_p.N883fs Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 902 Fibronectin type-III 3. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 AGGTGAGGATCTTTTTCTCAAT 0.470 17 124 --- --- --- --- LRP12 29967 broad.mit.edu 37 8 105521276 105521276 + Frame_Shift_Del DEL G G - TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chr8:105521276delG ENST00000276654.5 - 3 271 c.163delC c.(163-165)gafs p.R55fs LRP12_ENST00000424843.2_Frame_Shift_Del_p.R36fs NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 55 CUB 1. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding p.R55G(1) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTGGTGCTCGTATTTGCTCT 0.408 16 103 --- --- --- --- NKAP 79576 broad.mit.edu 37 X 119077333 119077338 + In_Frame_Del DEL CGCGAC CGCGAC - TCGA-CV-6933-01A-11D-1912-08 TCGA-CV-6933-11A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ef4b02e-4d34-4d58-aa2d-65a7f73982d5 6107e303-4ebb-4f5e-a281-c3eebba0966b g.chrX:119077333_119077338delCGCGAC ENST00000371410.3 - 1 397_402 c.231_236delGTCGCG c.(229-237)cgt>cg p.RSR77del NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 77 Ser-rich. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 CTCTCTAGAACGCGACCGCGAGCGTG 0.660 13 9 --- --- --- ---