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 LRP1B 53353 broad.mit.edu 37 2 141473613 141473613 + Silent SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:141473613A>G ENST00000389484.3 - 37 6923 c.5952T>C c.(5950-5952)ggT>ggC p.G1984G NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1984 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) AACGGAAAGAACCATTGAGTC 0.348000 TSP Lung(27;0.18) 19 76 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274170 39274170 + Missense_Mutation SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:39274170G>T ENST00000391413.2 - 1 436 c.398C>A c.(397-399)aCc>aAc p.T133N NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 133 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gtggcagcaggtgggctggca 0.672000 5 49 0.217242 0.217683 1 1 0 CHURC1 91612 broad.mit.edu 37 14 65392796 65392796 + Nonsense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:65392796C>T ENST00000607599.1 + 3 382 c.328C>T c.(328-330)Cag>Tag p.Q110* CHURC1_ENST00000549115.1_Nonsense_Mutation_p.Q109*|CHURC1-FNTB_ENST00000447296.2_Nonsense_Mutation_p.Q82*|CHURC1_ENST00000548752.2_Intron|CHURC1_ENST00000552002.2_Nonsense_Mutation_p.Q82*|CHURC1_ENST00000359118.2_Nonsense_Mutation_p.Q83*|CHURC1-FNTB_ENST00000542227.1_Intron NM_001204063.1|NM_145165.3 NP_001190992.1|NP_660148.3 churchill domain containing 1 breast(1)|pancreas(1) 2 all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976) GGATGAATTTCAGGTAAATAT 0.313000 5 105 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47697612 47697612 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr16:47697612G>A ENST00000455779.1 + 25 2467 c.2282G>A c.(2281-2283)aGa>aAa p.R761K PHKB_ENST00000566044.1_Missense_Mutation_p.R761K|PHKB_ENST00000299167.8_Missense_Mutation_p.R768K|PHKB_ENST00000323584.5_Missense_Mutation_p.R768K Q93100 KPBB_HUMAN phosphorylase kinase, beta 768 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) CACATTGAGAGAGTCTATAGA 0.318000 9 80 0 0 1 0 0 CHCHD1 118487 broad.mit.edu 37 10 75542900 75542900 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:75542900G>C ENST00000372833.5 + 3 325 c.312G>C c.(310-312)ttG>ttC p.L104F CHCHD1_ENST00000372837.3_3'UTR NM_203298.2 NP_976043.1 Q96BP2 CHCH1_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 1 104 nucleus breast(1) 1 Prostate(51;0.0112) CAAATAAATTGAATAAGTTGT 0.378000 20 40 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31500306 31500306 + Nonsense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr16:31500306C>A ENST00000330498.3 + 11 1405 c.1386C>A c.(1384-1386)taC>taA p.Y462* NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 462 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 TCTCTAGCTACCTGGCACCGC 0.667000 17 33 2.5808e-16 2.87791e-16 1 1 0 KSR2 283455 broad.mit.edu 37 12 118020146 118020146 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:118020146C>A ENST00000425217.1 - 6 1157 c.1103G>T c.(1102-1104)cGc>cTc p.R368L KSR2_ENST00000339824.5_Missense_Mutation_p.R397L|KSR2_ENST00000302438.5_Missense_Mutation_p.R94L|KSR2_ENST00000545002.1_5'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 397 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity p.R429L(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGGGGACCAGCGTGGCACTGA 0.577000 27 97 3.90053e-15 4.31065e-15 1 1 0 CPSF7 79869 broad.mit.edu 37 11 61196668 61196668 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:61196668C>T ENST00000340437.4 - 2 249 c.169G>A c.(169-171)Gag>Aag p.E57K CPSF7_ENST00000439958.3_Missense_Mutation_p.E14K|CPSF7_ENST00000541963.1_Missense_Mutation_p.E14K|CPSF7_ENST00000448745.1_Missense_Mutation_p.E14K|CPSF7_ENST00000394888.4_Missense_Mutation_p.E14K NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 14 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding p.E14Q(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 TTGAACTCCTCGTCAGCATAT 0.488000 5 119 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178834277 178834277 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:178834277G>A ENST00000234816.2 - 3 1082 c.635C>T c.(634-636)tCt>tTt p.S212F RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.S212F NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 212 extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 AAGTGGGGGAGACACATGGGT 0.468000 16 111 0 0 1 0 0 DSCR3 10311 broad.mit.edu 37 21 38600577 38600577 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr21:38600577G>A ENST00000309117.6 - 6 842 c.605C>T c.(604-606)tCg>tTg p.S202L DSCR3_ENST00000398998.1_Missense_Mutation_p.S154L|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000288304.5_Silent_p.L159L|DSCR3_ENST00000399001.1_Missense_Mutation_p.S77L|DSCR3_ENST00000539844.1_Missense_Mutation_p.S125L|DSCR3_ENST00000476950.1_Missense_Mutation_p.S175L NM_006052.1 NP_006043.1 O14972 DSCR3_HUMAN Down syndrome critical region gene 3 202 vacuolar transport nucleus|retromer complex endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 GGCGGCTTCCGAGCTCTCCAC 0.602000 8 49 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43155769 43155769 + RNA SNP T T C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:43155769T>C ENST00000522175.2 + 0 697 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GTTTGGAAGGTATAGTTATTT 0.299000 15 56 0 0 1 0 0 ELAC2 60528 broad.mit.edu 37 17 12909106 12909106 + Silent SNP G G C rs138869157 TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:12909106G>C ENST00000338034.4 - 10 1073 c.834C>G c.(832-834)gtC>gtG p.V278V ELAC2_ENST00000395962.2_Silent_p.V259V|ELAC2_ENST00000426905.3_Silent_p.V238V NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 278 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 TCCCGTCCTTGACAGCAGCAA 0.498000 12 77 0 0 1 0 0 ZNF8 7554 broad.mit.edu 37 19 58806451 58806451 + Missense_Mutation SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:58806451A>G ENST00000196548.5 + 4 1408 c.1277A>G c.(1276-1278)gAg>gGg p.E426G AC010642.1_ENST00000591325.1_3'UTR NM_021089.2 NP_066575.2 P17098 ZNF8_HUMAN zinc finger protein 8 426 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) AAGCCCTTTGAGTGCCGCCAG 0.602000 23 104 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54395005 54395005 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:54395005G>A ENST00000263431.3 + 6 889 c.607G>A c.(607-609)Gac>Aac p.D203N PRKCG_ENST00000540413.1_Missense_Mutation_p.D203N|PRKCG_ENST00000542049.1_Missense_Mutation_p.D90N|PRKCG_ENST00000536044.1_Missense_Mutation_p.D203N NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 203 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding p.D203H(1) large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GCTCATCCCAGACCCTCGGAA 0.527000 4 129 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242683097 242683097 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:242683097G>A ENST00000321264.4 + 5 760 c.551G>A c.(550-552)cGg>cAg p.R184Q D2HGDH_ENST00000403782.1_Missense_Mutation_p.R50Q|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R184Q|D2HGDH_ENST00000342518.6_Missense_Mutation_p.R184Q NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 184 FAD-binding PCMH-type. 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GTGGAGGAACGGGACTTCATC 0.612000 12 24 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516722 140516722 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:140516722C>A ENST00000231134.5 + 1 1923 c.1706C>A c.(1705-1707)gCg>gAg p.A569E NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 569 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACGGCTCGGCGCCTTGCACC 0.721000 13 55 1.52009e-12 1.67617e-12 1 1 0 LILRA2 11027 broad.mit.edu 37 19 55086487 55086487 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:55086487G>A ENST00000251377.3 + 5 775 c.642G>A c.(640-642)gaG>gaA p.E214E LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.E214E|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.E202E|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.E214E leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) ATCTCCTGGAGCTCCTGGTCC 0.597000 10 134 0 0 1 0 0 ACADVL 37 broad.mit.edu 37 17 7128306 7128306 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:7128306G>A ENST00000356839.5 + 20 2037 c.1858G>A c.(1858-1860)Gcc>Acc p.A620T ACADVL_ENST00000543245.2_Missense_Mutation_p.A643T|ACADVL_ENST00000350303.5_Missense_Mutation_p.A598T NM_000018.3|NM_001270448.1 NP_000009.1|NP_001257377.1 P49748 ACADV_HUMAN acyl-CoA dehydrogenase, very long chain 620 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1) 21 GGGCATGGCCGCCCTGCAGTC 0.647000 11 42 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14543009 14543009 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr18:14543009G>A ENST00000358970.5 - 1 136 c.137C>T c.(136-138)tCt>tTt p.S46F POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 46 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GTGGTCTCCAGAAGTGCCCAT 0.582000 7 358 0 0 1 0 0 RUNX1 861 broad.mit.edu 37 21 36206728 36206728 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr21:36206728G>C ENST00000344691.4 - 4 2280 c.703C>G c.(703-705)Cag>Gag p.Q235E RUNX1_ENST00000300305.3_Missense_Mutation_p.Q262E|RUNX1_ENST00000358356.5_Missense_Mutation_p.Q235E|RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000437180.1_Missense_Mutation_p.Q262E|RUNX1_ENST00000325074.5_Missense_Mutation_p.Q250E NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 235 Pro/Ser/Thr-rich. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.Q262*(1)|p.F259fs*219(1) breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 CTCTGAGGCTGAGGGTTAAAG 0.652000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 18 69 0 0 1 0 0 AGO3 192669 broad.mit.edu 37 1 36499868 36499868 + Nonsense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:36499868C>G ENST00000373191.4 + 13 2034 c.1685C>G c.(1684-1686)tCa>tGa p.S562* AGO3_ENST00000246314.6_Nonsense_Mutation_p.S328* NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 CAAACTCTGTCAAACTTGTGC 0.353000 5 34 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9515039 9515039 + Missense_Mutation SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:9515039A>G ENST00000281419.3 + 17 2052 c.1712A>G c.(1711-1713)gAt>gGt p.D571G ASAP2_ENST00000315273.4_Missense_Mutation_p.D571G NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 571 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 GATGGTGTGGATCTTACGGAA 0.483000 23 56 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10425596 10425596 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:10425596C>G ENST00000377086.1 + 43 4844 c.4642C>G c.(4642-4644)Cag>Gag p.Q1548E KIF1B_ENST00000377081.1_Missense_Mutation_p.Q1548E|KIF1B_ENST00000263934.6_Missense_Mutation_p.Q1502E O60333 KIF1B_HUMAN kinesin family member 1B 1548 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TATCTCCTCTCAGATCTCAAC 0.552000 19 66 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72050645 72050645 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:72050645G>A ENST00000548100.1 - 2 1248 c.1035C>T c.(1033-1035)ttC>ttT p.F345F ZFC3H1_ENST00000378743.3_Intron|ZFC3H1_ENST00000552037.1_Intron O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 0 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ATTACTAACTGAAATATTTAA 0.318000 14 62 0 0 1 0 0 SLC17A7 57030 broad.mit.edu 37 19 49933929 49933929 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:49933929G>C ENST00000221485.3 - 12 1701 c.1530C>G c.(1528-1530)ttC>ttG p.F510L SLC17A7_ENST00000600601.1_Missense_Mutation_p.F443L|SLC17A7_ENST00000543531.1_Missense_Mutation_p.F498L NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 510 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) CATGGCCAACGAAGCCACACT 0.627000 12 56 0 0 1 0 0 RNF19B 127544 broad.mit.edu 37 1 33402809 33402809 + Missense_Mutation SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:33402809G>T ENST00000373456.7 - 9 1796 c.1797C>A c.(1795-1797)caC>caA p.H599Q RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.H598Q NM_153341.2 NP_699172.2 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 599 integral to membrane ligase activity|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CCAGCTGATAGTGGCTTGGTT 0.483000 16 137 3.45872e-05 3.61228e-05 1 1 0 HDAC10 83933 broad.mit.edu 37 22 50689234 50689234 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr22:50689234C>T ENST00000216271.5 - 2 512 c.160G>A c.(160-162)Gag>Aag p.E54K HDAC10_ENST00000448072.1_Missense_Mutation_p.E54K|HDAC10_ENST00000349505.4_Missense_Mutation_p.E54K|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR NM_001159286.1|NM_032019.5 NP_001152758.1|NP_114408.3 Q969S8 HDA10_HUMAN histone deacetylase 10 54 Histone deacetylase. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific) endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCCGAGGCCTCGCGGGCTGAC 0.706000 3 12 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55904309 55904309 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:55904309C>A ENST00000301529.1 - 1 885 c.886G>T c.(886-888)Gat>Tat p.D296Y NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) ACATTTACATCATTATTCCTC 0.348000 19 39 3.73194e-20 4.17099e-20 1 1 0 SMG6 23293 broad.mit.edu 37 17 2201249 2201249 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:2201249G>C ENST00000544865.1 - 3 2365 c.1855C>G c.(1855-1857)Cag>Gag p.Q619E SMG6_ENST00000263073.5_Missense_Mutation_p.Q650E Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 650 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TCAATCACCTGATAGAAAGCA 0.423000 18 84 0 0 1 0 0 ZNF529 57711 broad.mit.edu 37 19 37038219 37038219 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:37038219C>T ENST00000334116.7 - 6 1536 c.926G>A c.(925-927)aGg>aAg p.R309K ZNF529_ENST00000591340.1_Missense_Mutation_p.R414K NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) AGTATGAATCCTCTGATGTCT 0.383000 20 130 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175375816 175375816 + Missense_Mutation SNP T T G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:175375816T>G ENST00000367674.1 - 3 743 c.35A>C c.(34-36)aAc>aCc p.N12T TNR_ENST00000263525.2_Missense_Mutation_p.N12T NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 12 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AATGAGCATGTTCTTCAGAAC 0.542000 48 100 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76452507 76452507 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:76452507G>A ENST00000388942.3 + 5 730 c.454G>A c.(454-456)Gag>Aag p.E152K NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 152 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 GTTCTTCTCAGAGGTAGGTGG 0.512000 19 116 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113933538 113933538 + Nonsense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:113933538G>C ENST00000348367.4 - 7 676 c.479C>G c.(478-480)tCa>tGa p.S160* GPAM_ENST00000423155.1_Nonsense_Mutation_p.S160*|GPAM_ENST00000369425.1_Nonsense_Mutation_p.S160* Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 160 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) AACGGCTTTTGATTGCTGCTG 0.413000 7 45 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12461186 12461186 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:12461186G>A ENST00000242804.4 - 6 1795 c.1213C>T c.(1213-1215)Cac>Tac p.H405Y ZNF442_ENST00000438182.1_Missense_Mutation_p.H336Y NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TTGCATTTGTGAGGTCCATCT 0.423000 20 137 0 0 1 0 0 SDF4 51150 broad.mit.edu 37 1 1153085 1153085 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:1153085C>T ENST00000263741.7 - 7 1304 c.1012G>A c.(1012-1014)Gcc>Acc p.A338T SDF4_ENST00000360001.6_Intron NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 0 EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity). cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) GCGAGCGGGGCACAGGTCAGC 0.637000 8 77 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644521 169644521 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:169644521C>T ENST00000428432.2 + 6 860 c.471C>T c.(469-471)ctC>ctT p.L157L SAMD7_ENST00000335556.3_Silent_p.L157L NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 157 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GAAGCACCCTCAGAAACCTTC 0.572000 9 118 0 0 1 0 0 HMG20B 10362 broad.mit.edu 37 19 3576258 3576258 + Splice_Site SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:3576258G>A ENST00000333651.6 + 6 547 c.e6-1 NM_006339.2 NP_006330.2 Q9P0W2 HM20B_HUMAN high mobility group 20B blood coagulation|cell cycle|chromatin modification chromosome|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity p.?(1) cervix(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) TCCCCCGCCAGAAGACTCGAG 0.627000 13 62 0 0 1 0 0 LRRC73 221424 broad.mit.edu 37 6 43474984 43474984 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:43474984C>G ENST00000372441.1 - 6 1843 c.943G>C c.(943-945)Gag>Cag p.E315Q NM_001012974.1 NP_001012992.1 Q5JTD7 CF154_HUMAN leucine rich repeat containing 73 315 AGTCACATCTCGGTCTCAGCC 0.557000 OREG0017453 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 33 0 0 1 0 0 TRIM52 84851 broad.mit.edu 37 5 180687775 180687775 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:180687775G>A ENST00000327767.4 - 1 344 c.40C>T c.(40-42)Ctt>Ttt p.L14F TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000511331.1_RNA NM_032765.2 NP_116154.1 Q96A61 TRI52_HUMAN tripartite motif containing 52 14 intracellular zinc ion binding endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.232) TCCTCCTGAAGGGTCTGCATG 0.597000 7 43 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118484405 118484405 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:118484405C>G ENST00000349139.4 + 9 971 c.924C>G c.(922-924)atC>atG p.I308M WDR3_ENST00000369441.3_3'UTR NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 308 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TGTTTTGTATCCTTTCCAAAA 0.303000 6 30 0 0 1 0 0 TRBV7-4 28594 broad.mit.edu 37 7 142176539 142176539 + RNA SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:142176539G>A ENST00000390369.2 - 0 136 TACATGACCCGAAATTGAATC 0.527000 11 54 0 0 1 0 0 HNRNPU 3192 broad.mit.edu 37 1 245021528 245021528 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:245021528C>G ENST00000444376.2 - 7 1456 c.1222G>C c.(1222-1224)Gat>Cat p.D408H HNRNPU_ENST00000283179.9_Missense_Mutation_p.D427H NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 427 B30.2/SPRY. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding p.N405_K417delNGQDLGVAFKISK(1) NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) ACGCCAAGATCTTGTCCATTC 0.393000 11 52 0 0 1 0 0 FABP9 646480 broad.mit.edu 37 8 82373744 82373744 + Missense_Mutation SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:82373744G>T ENST00000379071.2 - 1 70 c.15C>A c.(13-15)ttC>ttA p.F5L RP11-157I4.4_ENST00000524085.2_RNA NM_001080526.1 NP_001073995.1 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 5 lipid binding|transporter activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Epithelial(68;0.186) AGGTTCCCAAGAAGGGCTCAA 0.398000 15 115 0.00400662 0.00409787 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 3 35 0 0 1 0 0 MFN2 9927 broad.mit.edu 37 1 12061511 12061511 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:12061511C>T ENST00000235329.5 + 9 1192 c.870C>T c.(868-870)ggC>ggT p.G290G MFN2_ENST00000444836.1_Silent_p.G290G NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 290 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) ATGAGCTGGGCGTGGTGGATC 0.597000 3 25 0 0 1 0 0 FGF21 26291 broad.mit.edu 37 19 49261419 49261419 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:49261419C>T ENST00000593756.1 + 4 1144 c.572C>T c.(571-573)tCg>tTg p.S191L FGF21_ENST00000222157.3_Missense_Mutation_p.S191L Q9NSA1 FGF21_HUMAN fibroblast growth factor 21 191 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) GTGGGCTCCTCGGACCCTCTG 0.637000 4 25 0 0 1 0 0 AGBL2 79841 broad.mit.edu 37 11 47690425 47690425 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:47690425G>C ENST00000525123.1 - 15 2467 c.2182C>G c.(2182-2184)Ctt>Gtt p.L728V AGBL2_ENST00000357610.3_Missense_Mutation_p.L730V|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.L728V|AGBL2_ENST00000528244.1_Missense_Mutation_p.L690V NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 728 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 TGAACAGGAAGACCATCTGAG 0.388000 6 68 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134049 119134049 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:119134049G>A ENST00000264245.4 + 12 3805 c.3273G>A c.(3271-3273)aaG>aaA p.K1091K NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1091 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 TACAGCTAAAGAGCACAGAGT 0.562000 26 204 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124058634 124058634 + Missense_Mutation SNP T T G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:124058634T>G ENST00000368994.2 + 9 1030 c.779T>G c.(778-780)gTg>gGg p.V260G BTBD16_ENST00000260723.4_Missense_Mutation_p.V259G Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 259 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) CTCCACAAAGTGCTGAAGTCC 0.622000 OREG0020592 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 22 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114298149 114298149 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:114298149C>G ENST00000408937.3 + 12 1744 c.1370C>G c.(1369-1371)tCg>tGg p.S457W FOXP2_ENST00000393494.2_Missense_Mutation_p.S432W|FOXP2_ENST00000393489.3_Missense_Mutation_p.S340W|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.S432W|FOXP2_ENST00000403559.4_Missense_Mutation_p.S449W|FOXP2_ENST00000393498.2_Missense_Mutation_p.S411W|FOXP2_ENST00000393491.3_Intron NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 432 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 GTCACCATGTCGAAGAATATG 0.483000 12 65 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124861477 124861477 + Nonsense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:124861477C>T ENST00000529051.1 + 9 2288 c.2029C>T c.(2029-2031)Cag>Tag p.Q677* CCDC15_ENST00000344762.5_Nonsense_Mutation_p.Q677* Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 677 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CATCAAAAATCAGGTAGAGTA 0.398000 3 7 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64168348 64168348 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:64168348G>C ENST00000395391.1 + 4 3041 c.1666G>C c.(1666-1668)Gaa>Caa p.E556Q ZNF107_ENST00000344930.3_Missense_Mutation_p.E556Q|ZNF107_ENST00000423627.1_Missense_Mutation_p.E556Q Q9UII5 ZN107_HUMAN zinc finger protein 107 556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) CAAATGTGAAGAACATGGCAA 0.353000 10 57 0 0 1 0 0 DENND2D 79961 broad.mit.edu 37 1 111730772 111730772 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:111730772C>G ENST00000357640.4 - 11 1549 c.1320G>C c.(1318-1320)aaG>aaC p.K440N DENND2D_ENST00000369752.5_Missense_Mutation_p.K437N NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 440 breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) GATTCTTGCTCTTCTCGGCTT 0.468000 7 40 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132306116 132306116 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:132306116C>T ENST00000331898.7 - 6 1379 c.801G>A c.(799-801)ctG>ctA p.L267L OPCML_ENST00000374778.4_Silent_p.L226L|OPCML_ENST00000524381.1_Silent_p.L260L|OPCML_ENST00000541867.1_Silent_p.L267L|OPCML_ENST00000529038.1_5'UTR NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 267 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TCATTCCATCCAGACCAGTGG 0.443000 12 52 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42126602 42126602 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr22:42126602G>C ENST00000401548.3 + 9 1097 c.1057G>C c.(1057-1059)Gaa>Caa p.E353Q MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.E93Q NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 353 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 ACTCCTGGTAGAAGAGCCACT 0.488000 8 42 0 0 1 0 0 YTHDC2 64848 broad.mit.edu 37 5 112860722 112860722 + Nonsense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:112860722C>G ENST00000161863.4 + 3 536 c.323C>G c.(322-324)tCa>tGa p.S108* YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.S108* NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 108 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) AAAGATGGATCAGAAACAGCT 0.323000 5 33 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50247582 50247582 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:50247582C>G ENST00000246801.3 - 8 1349 c.1267G>C c.(1267-1269)Gag>Cag p.E423Q TSKS_ENST00000358830.3_Missense_Mutation_p.E223Q NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 423 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CGCCCGAACTCCTCCAGAATG 0.597000 7 47 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 897555 897555 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:897555G>C ENST00000456758.2 + 19 2052 c.2052G>C c.(2050-2052)gtG>gtC p.V684V SUN1_ENST00000413514.2_Silent_p.V293V|SUN1_ENST00000405266.1_Silent_p.V532V|SUN1_ENST00000425407.2_Silent_p.V412V|SUN1_ENST00000401592.1_Silent_p.V495V|SUN1_ENST00000452783.2_Silent_p.V392V|SUN1_ENST00000389574.3_Silent_p.V412V O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 522 SUN. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGCGACACGTGAAGACCGGCT 0.483000 24 243 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99514434 99514434 + Silent SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:99514434C>A ENST00000261037.3 + 5 2069 c.1689C>A c.(1687-1689)ggC>ggA p.G563G COL8A1_ENST00000273342.4_Silent_p.G563G NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 563 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 gacccccaggccctccaggac 0.637000 14 34 0.000151284 0.000156022 1 1 0 SOS2 6655 broad.mit.edu 37 14 50605458 50605458 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:50605458C>G ENST00000216373.5 - 18 3104 c.2830G>C c.(2830-2832)Gat>Cat p.D944H SOS2_ENST00000543680.1_Missense_Mutation_p.D911H NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 944 Ras-GEF. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) TTTAAAAAATCATTATTCCCT 0.249000 4 23 0 0 1 0 0 PCM1 5108 broad.mit.edu 37 8 17810491 17810491 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:17810491C>T ENST00000325083.8 + 9 1523 c.1084C>T c.(1084-1086)Cca>Tca p.P362S PCM1_ENST00000518537.1_Missense_Mutation_p.P401S|PCM1_ENST00000519253.1_Missense_Mutation_p.P362S|PCM1_ENST00000524226.1_Missense_Mutation_p.P362S NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 362 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) TCCAGCTGTTCCAGACAATAG 0.343000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 3 9 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130332600 130332600 + Missense_Mutation SNP T T A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:130332600T>A ENST00000299164.2 + 4 1467 c.1467T>A c.(1465-1467)gaT>gaA p.D489E NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 489 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CCTGGGCCGATGGCACCAGCT 0.627000 7 90 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733114 152733114 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:152733114C>T ENST00000368773.1 + 2 1108 c.1050C>T c.(1048-1050)atC>atT p.I350I KPRP_ENST00000606109.1_Silent_p.I350I NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 350 Pro-rich. cytoplasm p.I350M(2) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTCCCATCAGACGCCGCT 0.652000 7 41 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269842 1269842 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:1269842G>A ENST00000447027.1 + 31 11799 c.11741G>A c.(11740-11742)gGg>gAg p.G3914E RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.G3911E Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3911 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCCGTCCCGGGGACCACCCAC 0.642000 5 73 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116066899 116066899 + Missense_Mutation SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:116066899A>G ENST00000410059.1 + 2 625 c.145A>G c.(145-147)Atc>Gtc p.I49V DPP10_ENST00000310323.8_Missense_Mutation_p.I42V|DPP10_ENST00000393147.2_Missense_Mutation_p.I53V|DPP10_ENST00000409163.1_5'UTR NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 49 Mediates effects on KCND2. 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 ATGCTCACTCATCACTATGTC 0.413000 8 53 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44377562 44377562 + Silent SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:44377562C>G ENST00000587539.1 - 3 803 c.804G>C c.(802-804)gtG>gtC p.V268V ZNF404_ENST00000324394.6_Silent_p.V266V NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) TGTAGGGTTTCACACCATGAT 0.353000 6 37 0 0 1 0 0 GART 2618 broad.mit.edu 37 21 34903824 34903824 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr21:34903824C>T ENST00000381831.3 - 6 831 c.568G>A c.(568-570)Gaa>Aaa p.E190K GART_ENST00000361093.5_Missense_Mutation_p.E190K|GART_ENST00000497313.1_5'UTR|GART_ENST00000381839.3_Missense_Mutation_p.E190K|GART_ENST00000381815.4_Missense_Mutation_p.E190K NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 190 ATP-grasp. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding p.E190*(1) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) AGAAGTTCTTCAATGACAATT 0.353000 20 136 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140301918 140301918 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:140301918C>T ENST00000275884.6 - 2 697 c.280G>A c.(280-282)Gag>Aag p.E94K DENND2A_ENST00000496613.1_Missense_Mutation_p.E94K|DENND2A_ENST00000492720.1_Missense_Mutation_p.E94K|DENND2A_ENST00000537639.1_Missense_Mutation_p.E94K Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 94 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TTCTTAGCCTCTGTGACCTGA 0.572000 20 98 0 0 1 0 0 ACADVL 37 broad.mit.edu 37 17 7124970 7124970 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:7124970G>C ENST00000356839.5 + 7 770 c.591G>C c.(589-591)caG>caC p.Q197H ACADVL_ENST00000543245.2_Missense_Mutation_p.Q220H|ACADVL_ENST00000350303.5_Missense_Mutation_p.Q175H|ACADVL_ENST00000581562.1_Intron NM_000018.3|NM_001270448.1 NP_000009.1|NP_001257377.1 P49748 ACADV_HUMAN acyl-CoA dehydrogenase, very long chain 197 Catalytic. energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1) 21 CAAAGGCCCAGAAAGAAAAAT 0.577000 10 60 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741740 140741740 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:140741740G>A ENST00000522605.1 + 1 2038 c.2038G>A c.(2038-2040)Gag>Aag p.E680K PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACCGCCGGGAGCCCTCTGA 0.597000 13 74 0 0 1 0 0 OLFML1 283298 broad.mit.edu 37 11 7507148 7507148 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:7507148G>C ENST00000329293.3 + 1 436 c.42G>C c.(40-42)ctG>ctC p.L14L OLFML1_ENST00000530135.1_Silent_p.L14L|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_Silent_p.L14L NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 14 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) TGCTGGTTCTGTTCCTTGCAG 0.547000 15 77 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137246 40137246 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:40137246C>G ENST00000278198.2 - 2 2560 c.597G>C c.(595-597)ttG>ttC p.L199F LRRC4C_ENST00000527150.1_Missense_Mutation_p.L199F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.L199F|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L199F Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 199 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TCAAATACCTCAAGTTGGACA 0.428000 14 103 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126408679 126408679 + Silent SNP T T C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:126408679T>C ENST00000394329.3 + 16 13009 c.12996T>C c.(12994-12996)acT>acC p.T4332T FAT4_ENST00000335110.5_Silent_p.T2573T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4332 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCCACCCTACTCAGGACTTCG 0.423000 13 35 0 0 1 0 0 C21orf91 54149 broad.mit.edu 37 21 19169332 19169332 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr21:19169332C>G ENST00000284881.4 - 3 321 c.231G>C c.(229-231)aaG>aaC p.K77N C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400558.3_Missense_Mutation_p.K77N|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Missense_Mutation_p.K77N NM_001100420.1|NM_017447.3 NP_001093890.1|NP_059143.3 Q9NYK6 EURL_HUMAN chromosome 21 open reading frame 91 77 endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) TTTTTGAAAGCTTAGATCGAG 0.358000 13 72 0 0 1 0 0 IGFBP4 3487 broad.mit.edu 37 17 38609380 38609380 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:38609380G>A ENST00000269593.4 + 2 768 c.493G>A c.(493-495)Gat>Aat p.D165N IGFBP4_ENST00000542955.1_Missense_Mutation_p.D65N NM_001552.2 NP_001543.2 P22692 IBP4_HUMAN insulin-like growth factor binding protein 4 165 DNA metabolic process|signal transduction|skeletal system development NS(1)|endometrium(1)|kidney(1)|large_intestine(2) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GCCCCGGGAGGATGCCCGGCC 0.612000 5 28 0 0 1 0 0 RAD23A 5886 broad.mit.edu 37 19 13059952 13059952 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:13059952G>C ENST00000586534.1 + 6 719 c.658G>C c.(658-660)Gag>Cag p.E220Q RAD23A_ENST00000316856.3_Missense_Mutation_p.E220Q|RAD23A_ENST00000541222.1_Missense_Mutation_p.E55Q|RAD23A_ENST00000592268.1_Missense_Mutation_p.E220Q|RAD23A_ENST00000588826.2_3'UTR P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) 220 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 CCAGGTATCGGAGCAGCCGGC 0.612000 Nucleotide excision repair (NER) 3 29 0 0 1 0 0 FAM83H 286077 broad.mit.edu 37 8 144810838 144810838 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:144810838C>G ENST00000388913.3 - 5 918 c.793G>C c.(793-795)Gag>Cag p.E265Q NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 265 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 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) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GAGACCAGCTCTCCTTGGAAC 0.657000 6 47 0 0 1 0 0 FANCC 2176 broad.mit.edu 37 9 97869405 97869405 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr9:97869405G>C ENST00000289081.3 - 14 1730 c.1476C>G c.(1474-1476)ctC>ctG p.L492L FANCC_ENST00000375305.1_Silent_p.L492L NM_000136.2 NP_000127.2 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 492 protein complex assembly cytosol|nucleoplasm protein binding kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) GCAGGAAGTTGAGGAGAAGGT 0.587000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 8 46 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22952004 22952004 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:22952004G>A ENST00000397104.3 - 2 188 c.189C>T c.(187-189)ttC>ttT p.F63F ZNF99_ENST00000596209.1_Silent_p.F42F zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CCTCACCCAGGAAGACCAGGT 0.373000 11 105 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127649076 127649076 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:127649076C>G ENST00000405109.1 + 4 1909 c.1442C>G c.(1441-1443)tCt>tGt p.S481C KBTBD12_ENST00000343941.4_Missense_Mutation_p.S56C|KBTBD12_ENST00000405256.1_Missense_Mutation_p.S481C|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Missense_Mutation_p.S88C Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 481 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 ATGAAGTACTCTAAGTACCGA 0.418000 3 33 0 0 1 0 0 PGBD4 161779 broad.mit.edu 37 15 34395407 34395407 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:34395407G>A ENST00000397766.2 + 1 1134 c.675G>A c.(673-675)aaG>aaA p.K225K NM_152595.4 NP_689808.2 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 225 breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1) 16 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) CATTGCAGAAGATCAAACCTG 0.378000 11 62 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55597234 55597234 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:55597234G>C ENST00000201647.6 + 15 1467 c.1411G>C c.(1411-1413)Gag>Cag p.E471Q EPS8L1_ENST00000586329.1_Missense_Mutation_p.E485Q|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E407Q|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E344Q|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E157Q NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 471 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GCCAGAATCTGAGCCTCAGCT 0.582000 11 71 0 0 1 0 0 HLA-DRB6 3128 broad.mit.edu 37 6 32522722 32522722 + RNA SNP C C A rs114905475 by1000genomes TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:32522722C>A ENST00000411500.1 - 0 484 NR_001298.1 TGGGTCTTTGCAGGATACACA 0.488000 3 17 0.004672 0.00476853 1 1 0 UNC79 57578 broad.mit.edu 37 14 94004426 94004426 + Missense_Mutation SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:94004426A>G ENST00000553484.1 + 12 1368 c.1214A>G c.(1213-1215)aAg>aGg p.K405R UNC79_ENST00000555664.1_Missense_Mutation_p.K405R|UNC79_ENST00000256339.4_Missense_Mutation_p.K228R|UNC79_ENST00000393151.2_Missense_Mutation_p.K405R Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 405 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CGGTACTGCAAGAGGTGCCAC 0.567000 12 61 0 0 1 0 0 PGAP1 80055 broad.mit.edu 37 2 197708800 197708800 + Splice_Site SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:197708800C>T ENST00000354764.3 - 25 2452 c.e25-1 NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 GTTTGGGATTCTATAAAACAA 0.303000 14 17 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31593070 31593070 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:31593070G>A ENST00000376033.2 + 6 820 c.586G>A c.(586-588)Gga>Aga p.G196R PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.G196R NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 196 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GTCTGGGCCCGGACCAAGCCT 0.582000 9 61 0 0 1 0 0 EIF2B4 8890 broad.mit.edu 37 2 27587375 27587375 + Silent SNP G G T rs1058076 TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:27587375G>T ENST00000493344.2 - 12 1839 c.1527C>A c.(1525-1527)gtC>gtA p.V509V EIF2B4_ENST00000445933.2_Silent_p.V487V|EIF2B4_ENST00000451130.2_Silent_p.V508V|EIF2B4_ENST00000347454.4_Silent_p.V488V|AC074117.10_ENST00000412749.1_RNA Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 488 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCACATCATAGACTAGATTCA 0.517000 13 53 4.36969e-10 4.77572e-10 1 1 0 WNT16 51384 broad.mit.edu 37 7 120978954 120978954 + Nonsense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:120978954C>A ENST00000222462.2 + 4 943 c.653C>A c.(652-654)tCa>tAa p.S218* WNT16_ENST00000361301.2_Nonsense_Mutation_p.S208* NM_057168.1 NP_476509.1 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, member 16 218 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) AAGTTGATGTCAGTAGACTGC 0.413000 8 36 2.17888e-05 2.28044e-05 1 1 0 RPLP0 6175 broad.mit.edu 37 12 120636522 120636522 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:120636522C>G ENST00000551150.1 - 5 801 c.486G>C c.(484-486)aaG>aaC p.K162N RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000392514.4_Missense_Mutation_p.K162N|RPLP0_ENST00000546989.1_Intron|RPLP0_ENST00000228306.4_Missense_Mutation_p.K162N P05388 RLA0_HUMAN ribosomal protein, large, P0 162 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGTCTCCAGTCTTGATCAGCT 0.522000 12 69 0 0 1 0 0 TRAPPC4 51399 broad.mit.edu 37 11 118889511 118889511 + Silent SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:118889511G>T ENST00000533632.1 + 1 370 c.6G>T c.(4-6)gcG>gcT p.A2A TRAPPC4_ENST00000434101.2_Silent_p.A2A|TRAPPC4_ENST00000525303.1_Silent_p.A2A|TRAPPC4_ENST00000533058.1_Silent_p.A2A|TRAPPC4_ENST00000359005.4_Silent_p.A2A|TRAPPC4_ENST00000528230.1_Silent_p.A2A NM_016146.4 NP_057230.1 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 2 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) CAGCGATGGCGATTTTTAGTG 0.592000 39 123 7.53189e-24 8.45626e-24 1 1 0 HMMR 3161 broad.mit.edu 37 5 162911099 162911099 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:162911099G>C ENST00000416990.2 + 16 1962 c.1465G>C c.(1465-1467)Gaa>Caa p.E489Q HMMR_ENST00000393915.4_Missense_Mutation_p.E604Q|HMMR_ENST00000358715.3_Missense_Mutation_p.E603Q|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Missense_Mutation_p.E588Q|HMMR_ENST00000432118.2_Missense_Mutation_p.E517Q O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 603 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) TTTTGAAGTAGAAAAACAGGC 0.294000 8 42 0 0 1 0 0 ATP2A3 489 broad.mit.edu 37 17 3844845 3844845 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:3844845C>T ENST00000309890.7 - 13 1799 c.1649G>A c.(1648-1650)cGg>cAg p.R550Q ATP2A3_ENST00000352011.3_Missense_Mutation_p.R550Q|ATP2A3_ENST00000397043.3_Missense_Mutation_p.R550Q|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Missense_Mutation_p.R550Q|ATP2A3_ENST00000397035.3_Missense_Mutation_p.R550Q|ATP2A3_ENST00000397041.3_Missense_Mutation_p.R550Q NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 550 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GCCCCAATCCCGGATCTTTGC 0.667000 16 64 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145659007 145659007 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:145659007G>C ENST00000409379.3 - 22 3552 c.3523C>G c.(3523-3525)Ctg>Gtg p.L1175V NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 1175 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 TGGTGGCTCAGAAAGAAGCTG 0.647000 13 100 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39798523 39798523 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:39798523G>A ENST00000564288.1 + 37 7040 c.6263G>A c.(6262-6264)aGa>aAa p.R2088K MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.R2125K|MACF1_ENST00000289893.4_Missense_Mutation_p.R528K|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.R2093K Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2093 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAAAAAGAGAGAAATCCAAAC 0.378000 7 41 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70338481 70338481 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:70338481G>A ENST00000338508.4 - 29 2400 c.2401C>T c.(2401-2403)Cgg>Tgg p.R801W SHANK2_ENST00000449833.2_Missense_Mutation_p.R205W|SHANK2_ENST00000357171.3_Missense_Mutation_p.R212W|SHANK2_ENST00000449116.2_Missense_Mutation_p.R202W|SHANK2_ENST00000423696.2_Missense_Mutation_p.R421W|SHANK2_ENST00000409530.1_Missense_Mutation_p.R211W|SHANK2_ENST00000409161.1_Missense_Mutation_p.R204W Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 421 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CTGCTGGGCCGCTGCTTGATG 0.652000 7 204 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 14133 14133 + Silent SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chrM:14133A>G ENST00000361567.2 + 1 1797 c.1797A>G c.(1795-1797)ctA>ctG p.L599L P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 599 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) ATCCTAACCCTACTCCTAATC 0.398000 13 2 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183665224 183665224 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:183665224C>T ENST00000334444.6 - 23 3542 c.3302G>A c.(3301-3303)cGg>cAg p.R1101Q ABCC5_ENST00000265586.6_Missense_Mutation_p.R1058Q NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1101 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GAGGTCCAGCCGCACAGCCAG 0.547000 3 44 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76350415 76350415 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr16:76350415G>C ENST00000307431.8 + 3 573 c.188G>C c.(187-189)aGa>aCa p.R63T CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R39T|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R67T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R63T NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 64 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CTGAATAGAAGAGATGGTAAG 0.433000 7 15 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54445537 54445537 + Nonsense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:54445537C>A ENST00000391767.1 + 6 1030 c.818C>A c.(817-819)tCg>tAg p.S273* CACNG7_ENST00000222212.2_Nonsense_Mutation_p.S273* P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 273 GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) ATCTCCACCTCGCCCTGCTGA 0.672000 54 139 1.27862e-28 1.43881e-28 1 1 0 PLCD1 5333 broad.mit.edu 37 3 38051768 38051768 + Splice_Site SNP T T G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:38051768T>G ENST00000463876.1 - 7 1409 c.e7-2 PLCD1_ENST00000334661.4_Splice_Site NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CACAGTGCCCTGCGGGGAGGG 0.617000 11 63 0 0 1 0 0 SHC2 25759 broad.mit.edu 37 19 440874 440874 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:440874G>A ENST00000264554.6 - 2 526 c.527C>T c.(526-528)aCg>aTg p.T176M NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 176 PID. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCACCTGCGTGCGCGTGTT 0.652000 31 108 0 0 1 0 0 TBXA2R 6915 broad.mit.edu 37 19 3600561 3600561 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:3600561C>T ENST00000375190.4 - 2 465 c.72G>A c.(70-72)ctG>ctA p.L24L TBXA2R_ENST00000411851.3_Silent_p.L24L|TBXA2R_ENST00000589966.1_Silent_p.L24L NM_001060.5|NM_201636.2 NP_001051.1|NP_963998.2 P21731 TA2R_HUMAN thromboxane A2 receptor 24 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) GCGAGGCGATCAGCCGTCTCT 0.697000 5 36 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196210645 196210645 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:196210645G>C ENST00000318037.3 - 4 1270 c.676C>G c.(676-678)Cag>Gag p.Q226E NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 226 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) ACTTACTTCTGAATATCTCCA 0.368000 18 124 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121209049 121209049 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:121209049G>A ENST00000264233.5 - 16 2857 c.2729C>T c.(2728-2730)tCa>tTa p.S910L NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 910 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) ATGAGTCAATGAGCATGTACT 0.373000 DNA polymerases (catalytic subunits) 21 98 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109201498 109201498 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:109201498G>A ENST00000326495.5 - 8 735 c.642C>T c.(640-642)atC>atT p.I214I SSH1_ENST00000326470.5_Silent_p.I225I|SSH1_ENST00000551165.1_Silent_p.I214I|SSH1_ENST00000360239.3_5'UTR NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 214 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCTCGGAGCTGATGCAGCTCT 0.602000 11 80 0 0 1 0 0 COQ6 51004 broad.mit.edu 37 14 74420205 74420205 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:74420205G>A ENST00000238709.4 + 2 309 c.65G>A c.(64-66)aGa>aAa p.R22K COQ6_ENST00000394026.4_Silent_p.E52E|COQ6_ENST00000334571.2_Silent_p.E77E|COQ6_ENST00000554920.1_Silent_p.E77E Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase 0 VSWRRWSGA -> AVLAQVVRR (in Ref. 1; AAD27719). ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen p.E77D(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) AAGTACTGGAGAAATTGTCAG 0.393000 5 45 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111500773 111500773 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:111500773G>C ENST00000261486.5 - 23 2251 c.1975C>G c.(1975-1977)Cag>Gag p.Q659E EPB41L4A_ENST00000507810.1_Intron NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 659 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) GTAGATGTCTGAGGTTTTTCT 0.363000 7 47 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61935281 61935281 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr16:61935281C>G ENST00000577390.1 - 3 1303 c.349G>C c.(349-351)Gat>Cat p.D117H CDH8_ENST00000577730.1_Missense_Mutation_p.D117H|CDH8_ENST00000299345.6_Missense_Mutation_p.D117H|CDH8_ENST00000584337.1_Missense_Mutation_p.D117H NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 117 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GCATGGATATCTCCAGTTACA 0.453000 28 73 0 0 1 0 0 NMRK2 27231 broad.mit.edu 37 19 3942109 3942109 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:3942109G>A ENST00000599576.1 + 5 389 c.325G>A c.(325-327)Gga>Aga p.G109R NMRK2_ENST00000593949.1_Silent_p.E182E|NMRK2_ENST00000168977.2_Silent_p.E177E nicotinamide riboside kinase 2 AGTCCCGAGAGGAGCTCTTCC 0.642000 14 71 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17034573 17034573 + RNA SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:17034573C>T ENST00000492551.1 - 0 194 NR_026567.1 CATTCACTCCCCTGCGGAGAC 0.701000 3 8 0 0 1 0 0 SLC45A2 51151 broad.mit.edu 37 5 33984673 33984673 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:33984673C>G ENST00000382102.3 - 1 73 c.16G>C c.(16-18)Ggg>Cgg p.G6R SLC45A2_ENST00000509381.1_Missense_Mutation_p.G6R|SLC45A2_ENST00000296589.4_Missense_Mutation_p.G6R|SLC45A2_ENST00000342059.3_Missense_Mutation_p.G6R|SLC45A2_ENST00000345083.5_Missense_Mutation_p.G6R NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 6 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 CCAGCCTGCCCACTGTTGCTA 0.567000 13 49 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233344363 233344363 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:233344363C>T ENST00000258229.8 - 13 2998 c.2764G>A c.(2764-2766)Gat>Aat p.D922N PCNXL2_ENST00000488780.2_Missense_Mutation_p.D55N|PCNXL2_ENST00000430153.1_Missense_Mutation_p.D221N NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 922 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GCCCCTGTATCAAGAAGCAAA 0.433000 3 34 0 0 1 0 0 HTR7 3363 broad.mit.edu 37 10 92508659 92508659 + Nonsense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:92508659G>C ENST00000371721.3 - 2 1474 c.1232C>G c.(1231-1233)tCa>tGa p.S411* HTR7_ENST00000277874.6_Nonsense_Mutation_p.S411*|HTR7_ENST00000336152.3_Nonsense_Mutation_p.S411*|HTR7_ENST00000371719.2_Nonsense_Mutation_p.S411* P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 411 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) GCCTGCAGCTGAGAGCTTCCG 0.498000 15 115 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 170015858 170015858 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:170015858C>G ENST00000367765.1 - 3 1695 c.194G>C c.(193-195)gGa>gCa p.G65A KIFAP3_ENST00000361580.2_Missense_Mutation_p.G105A|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367767.1_Missense_Mutation_p.G61A|KIFAP3_ENST00000538366.1_5'UTR NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 105 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTACCTTTTCCTGACAATGA 0.348000 14 112 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86954766 86954766 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:86954766G>C ENST00000234701.3 + 9 1621 c.1270G>C c.(1270-1272)Gag>Cag p.E424Q CLCA1_ENST00000394711.1_Missense_Mutation_p.E424Q A8K7I4 CLCA1_HUMAN chloride channel accessory 1 424 VWFA. calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GTGCTTTAACGAGGTCAAACA 0.468000 15 51 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179398781 179398781 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:179398781G>A ENST00000589042.1 - 358 102785 c.102561C>T c.(102559-102561)taC>taT p.Y34187Y TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000591111.1_Silent_p.Y32546Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.Y25122Y|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Silent_p.Y25247Y|TTN_ENST00000342992.6_Silent_p.Y31619Y|TTN_ENST00000342175.6_Silent_p.Y25314Y|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32546 Ser-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCCATCTTCGTAGGTGATTT 0.398000 8 51 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90572878 90572878 + RNA SNP A A T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:90572878A>T ENST00000551025.1 + 0 2887 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) AGAAGAAAATAGGCATATTAG 0.333000 3 17 0 0 1 0 0 SLAMF6 114836 broad.mit.edu 37 1 160456943 160456943 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:160456943C>G ENST00000368059.3 - 7 968 c.899G>C c.(898-900)aGa>aCa p.R300T SLAMF6_ENST00000368057.3_Missense_Mutation_p.R301T|SLAMF6_ENST00000368055.1_Missense_Mutation_p.R190T NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 301 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) ATCATTTTCTCTAGGTGTCCA 0.353000 5 37 0 0 1 0 0 ANAPC4 29945 broad.mit.edu 37 4 25418140 25418140 + Silent SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:25418140C>G ENST00000315368.3 + 27 2137 c.1995C>G c.(1993-1995)ctC>ctG p.L665L ANAPC4_ENST00000510092.1_Silent_p.L666L NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 665 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) GAGATAGACTCTTGGTCCAGC 0.368000 13 55 0 0 1 0 0 LRRC31 79782 broad.mit.edu 37 3 169558081 169558081 + Missense_Mutation SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:169558081G>T ENST00000316428.5 - 9 1405 c.1348C>A c.(1348-1350)Cat>Aat p.H450N LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.H394N NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 450 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TTGGCCAGATGACCCGTCTGT 0.473000 6 82 3.59834e-05 3.75016e-05 1 1 0 KRT74 121391 broad.mit.edu 37 12 52963645 52963645 + Missense_Mutation SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:52963645G>T ENST00000549343.1 - 6 1170 c.1132C>A c.(1132-1134)Cag>Aag p.Q378K KRT74_ENST00000305620.2_Missense_Mutation_p.Q378K Q7RTS7 K2C74_HUMAN keratin 74 378 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) CTGCCCACCTGCTTCTTCACA 0.582000 21 86 7.41877e-09 8.07241e-09 1 1 0 RCOR1 23186 broad.mit.edu 37 14 103188637 103188637 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:103188637G>A ENST00000262241.6 + 11 1529 c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K RCOR1_ENST00000570597.1_Missense_Mutation_p.E432K NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 432 blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 CAACATAGATGAAGTTTTACA 0.428000 5 140 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30339475 30339475 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr21:30339475G>C ENST00000361371.4 - 10 1488 c.1338C>G c.(1336-1338)ctC>ctG p.L446L LTN1_ENST00000389194.2_Silent_p.L492L|LTN1_ENST00000389195.2_Silent_p.L492L NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 446 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 CTGGGTCTTTGAGAACTGCAT 0.388000 15 56 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53561522 53561522 + Silent SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chrX:53561522C>G ENST00000342160.3 - 81 13243 c.12786G>C c.(12784-12786)ctG>ctC p.L4262L HUWE1_ENST00000262854.6_Silent_p.L4262L Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4262 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TGTTGGATTTCAGATCATCGA 0.478000 10 26 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101442128 101442128 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:101442128C>A ENST00000392979.3 + 13 1517 c.1156C>A c.(1156-1158)Ctt>Att p.L386I ANO4_ENST00000550015.1_5'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.L421I NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 421 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GGTAACCCACCTTTTTGACAA 0.353000 HNSCC(74;0.22) 9 86 1.58986e-06 1.69631e-06 1 1 0 CNOT3 4849 broad.mit.edu 37 19 54656227 54656227 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:54656227G>C ENST00000406403.1 + 14 3371 c.1768G>C c.(1768-1770)Gag>Cag p.E590Q CNOT3_ENST00000358389.3_Missense_Mutation_p.E409Q|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E590Q O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 590 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCAGCTGTCAGAGGTGAACAT 0.652000 5 106 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52487605 52487605 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:52487605C>G ENST00000261839.7 - 40 5206 c.5045G>C c.(5044-5046)aGa>aCa p.R1682T RP11-430B1.2_ENST00000560518.1_lincRNA NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1682 Dilute. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TGGAGTCACTCTCTTCTCAAA 0.343000 9 40 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 43 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229690 140229690 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:140229690C>A ENST00000378122.3 + 1 2334 c.1610C>A c.(1609-1611)gCg>gAg p.A537E PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A537E NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGTGAGCGCGCGCGACGCG 0.667000 47 200 3.10996e-30 3.50758e-30 1 1 0 LRRC73 221424 broad.mit.edu 37 6 43474988 43474988 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:43474988C>T ENST00000372441.1 - 6 1839 c.939G>A c.(937-939)gaG>gaA p.E313E NM_001012974.1 NP_001012992.1 Q5JTD7 CF154_HUMAN leucine rich repeat containing 73 313 ACATCTCGGTCTCAGCCAACA 0.552000 OREG0017453 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 35 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578370 7578370 + Splice_Site SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:7578370C>A ENST00000420246.2 - 5 692 c.e5+1 TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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) CAGCTGCTCACCATCGCTATC 0.632000 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) 38 49 2.87052e-16 3.19378e-16 1 1 0 MED16 10025 broad.mit.edu 37 19 877178 877178 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:877178C>T ENST00000312090.6 - 9 1506 c.1356G>A c.(1354-1356)ctG>ctA p.L452L MED16_ENST00000395808.3_Silent_p.L452L|MED16_ENST00000589119.1_Silent_p.L452L|MED16_ENST00000606828.1_Intron|MED16_ENST00000325464.1_Silent_p.L452L|MED16_ENST00000269814.4_Silent_p.L452L Q9Y2X0 MED16_HUMAN mediator complex subunit 16 452 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGCACGCTCAGCTGCCAGA 0.687000 4 17 0 0 1 0 0 ZNHIT1 10467 broad.mit.edu 37 7 100867009 100867009 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:100867009C>T ENST00000305105.2 + 4 857 c.329C>T c.(328-330)tCg>tTg p.S110L ZNHIT1_ENST00000492315.1_3'UTR NM_006349.2 NP_006340.1 O43257 ZNHI1_HUMAN zinc finger, HIT-type containing 1 110 metal ion binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11 Lung NSC(181;0.168)|all_lung(186;0.215) GGACCCCCATCGCGGCCCCAG 0.667000 10 79 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1065456 1065456 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:1065456C>G ENST00000264930.5 - 18 2422 c.2379G>C c.(2377-2379)atG>atC p.M793I NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 793 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CGGGCCAGGCCATGAGCACCG 0.657000 5 89 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284408 152284408 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:152284408G>C ENST00000368799.1 - 3 2989 c.2954C>G c.(2953-2955)cCc>cGc p.P985R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 985 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) ATGGGACCTGGGGTGTCTGGA 0.567000 Ichthyosis 60 392 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57550564 57550564 + Silent SNP G G A rs138294603 TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:57550564G>A ENST00000243077.3 + 10 1888 c.1422G>A c.(1420-1422)agG>agA p.R474R NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 474 EGF-like 3. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCCAGTGAGGAGCCATGCCT 0.627000 7 20 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63538695 63538695 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:63538695C>G ENST00000550760.3 + 4 1447 c.1268C>G c.(1267-1269)cCt>cGt p.P423R NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 GAAGTGAGACCTTACAAATGT 0.398000 11 16 0 0 1 0 0 ZHX3 23051 broad.mit.edu 37 20 39832858 39832858 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr20:39832858G>A ENST00000309060.3 - 4 1114 c.699C>T c.(697-699)atC>atT p.I233I ZHX3_ENST00000432768.2_Silent_p.I233I|ZHX3_ENST00000560361.1_Silent_p.I233I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.I233I|ZHX3_ENST00000544979.2_Silent_p.I233I|ZHX3_ENST00000559234.1_Silent_p.I233I|ZHX3_ENST00000557816.1_Intron Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 233 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) CTGCCCCATTGATGAAGGAAT 0.562000 21 114 0 0 1 0 0 ECSIT 51295 broad.mit.edu 37 19 11624710 11624710 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:11624710G>A ENST00000270517.7 - 3 558 c.423C>T c.(421-423)ttC>ttT p.F141F ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000252440.7_Silent_p.F141F|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_Silent_p.F25F|ECSIT_ENST00000591104.1_Silent_p.F141F NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 141 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 TGCGAGGCCGGAAGACCTCCT 0.592000 23 40 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152614805 152614805 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:152614805G>A ENST00000367255.5 - 95 18531 c.17930C>T c.(17929-17931)aCg>aTg p.T5977M SYNE1_ENST00000448038.1_Missense_Mutation_p.T5906M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5906M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T501M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5977M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T5589M NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5977 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCCATCTTCGTAGAGATGGA 0.507000 HNSCC(10;0.0054) 14 49 0 0 1 0 0 KLC1 3831 broad.mit.edu 37 14 104123904 104123904 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:104123904C>A ENST00000389744.4 + 3 552 c.283C>A c.(283-285)Cac>Aac p.H95N KLC1_ENST00000554280.1_Missense_Mutation_p.H95N|KLC1_ENST00000380038.3_Missense_Mutation_p.H95N|KLC1_ENST00000557575.1_Missense_Mutation_p.H95N|KLC1_ENST00000553286.1_Missense_Mutation_p.H95N|KLC1_ENST00000555836.1_Missense_Mutation_p.H95N|KLC1_ENST00000452929.2_Missense_Mutation_p.H95N|KLC1_ENST00000347839.6_Missense_Mutation_p.H95N|KLC1_ENST00000334553.6_Missense_Mutation_p.H95N|KLC1_ENST00000445352.4_Missense_Mutation_p.H95N|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.H267N|KLC1_ENST00000348520.6_Missense_Mutation_p.H95N|KLC1_ENST00000246489.7_Missense_Mutation_p.H95N|KLC1_ENST00000557450.1_Missense_Mutation_p.H95N Q07866 KLC1_HUMAN kinesin light chain 1 95 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) TTTGTCAAATCACCTGAATGC 0.552000 6 51 8.12818e-05 8.41787e-05 1 1 0 LRRC8E 80131 broad.mit.edu 37 19 7964750 7964750 + Nonsense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:7964750G>A ENST00000539278.1 - 1 3677 c.517C>T c.(517-519)Cag>Tag p.Q173* LRRC8E_ENST00000306708.6_Missense_Mutation_p.C448Y GAGGCCATCTGCGATATCACC 0.657000 4 34 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008255 11008255 + Nonsense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:11008255G>C ENST00000377004.4 - 12 1936 c.1937C>G c.(1936-1938)tCa>tGa p.S646* C1orf127_ENST00000377008.4_Nonsense_Mutation_p.S479* NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 497 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) GCTTGGTTCTGAGGATGAAAG 0.652000 15 75 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940192 144940192 + Silent SNP C C T rs6982684 TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:144940192C>T ENST00000525985.1 - 2 7301 c.7230G>A c.(7228-7230)acG>acA p.T2410T P58107 EPIPL_HUMAN epiplakin 1 2410 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATAGGAGCCCCGTCTCAGGGT 0.577000 6 44 0 0 1 0 0 ANXA13 312 broad.mit.edu 37 8 124693544 124693544 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:124693544G>C ENST00000262219.6 - 12 1077 c.1010C>G c.(1009-1011)tCt>tGt p.S337C ANXA13_ENST00000419625.1_Missense_Mutation_p.S296C NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 296 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) AACCATGTCAGAGAGAGACTT 0.488000 29 270 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1818085 1818085 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr16:1818085G>A ENST00000250894.4 + 29 3693 c.3536G>A c.(3535-3537)cGa>cAa p.R1179Q MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1173Q NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 1179 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 GTCCTGCACCGAGGCCAGCTC 0.677000 14 81 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790076 133790076 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:133790076G>A ENST00000321016.8 - 18 3774 c.3544C>T c.(3544-3546)Cgg>Tgg p.R1182W IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1182W Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1182 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTGGCCTGCCGAGGGCTAGGC 0.716000 4 49 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117392001 117392001 + Nonsense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:117392001C>A ENST00000321322.6 - 6 1238 c.1237G>T c.(1237-1239)Gag>Tag p.E413* DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E143* NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 353 Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGCACCAGCTCCGTGTTGCGA 0.627000 21 59 9.95505e-16 1.10512e-15 1 1 0 SMOX 54498 broad.mit.edu 37 20 4164241 4164241 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr20:4164241C>T ENST00000305958.4 + 6 1695 c.1470C>T c.(1468-1470)agC>agT p.S490S SMOX_ENST00000379460.2_Silent_p.S490S|SMOX_ENST00000339123.6_Silent_p.S437S|SMOX_ENST00000278795.3_Silent_p.S437S|SMOX_ENST00000346595.2_Intron NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 490 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) TGGGCTCCAGCGGGGCGGATG 0.622000 11 63 0 0 1 0 0 DNAJC2 27000 broad.mit.edu 37 7 102953441 102953441 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:102953441C>T ENST00000379263.3 - 16 1994 c.1744G>A c.(1744-1746)Gaa>Aaa p.E582K DNAJC2_ENST00000249270.7_Missense_Mutation_p.E529K|PMPCB_ENST00000420236.2_Intron|PMPCB_ENST00000249269.4_3'UTR NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 582 SANT 2. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 GGCACCGCTTCTGCTATTTTT 0.408000 28 136 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963269 73963269 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chrX:73963269C>G ENST00000373468.1 - 3 1774 c.1123G>C c.(1123-1125)Gag>Cag p.E375Q KIAA2022_ENST00000055682.5_Missense_Mutation_p.E375Q Q5QGS0 K2022_HUMAN KIAA2022 375 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTATCTTCCTCCCCCCAGATG 0.473000 19 57 0 0 1 0 0 ZNF85 7639 broad.mit.edu 37 19 21116874 21116874 + Missense_Mutation SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:21116874G>T ENST00000328178.8 + 2 161 c.48G>T c.(46-48)aaG>aaT p.K16N ZNF85_ENST00000345030.6_Missense_Mutation_p.K16N|ZNF85_ENST00000300540.3_Missense_Mutation_p.K16N|ZNF85_ENST00000596476.1_5'UTR|ZNF85_ENST00000597314.1_Missense_Mutation_p.K16N NM_001256173.1|NM_003429.4 NP_001243102.1|NP_003420.2 Q03923 ZNF85_HUMAN zinc finger protein 85 16 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 TCTCTCTGAAGGAGTGGCAAT 0.433000 28 165 1.77063e-15 1.96119e-15 1 1 0 STK19 8859 broad.mit.edu 37 6 31939957 31939957 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:31939957G>C ENST00000375331.2 + 1 350 c.184G>C c.(184-186)Ggc>Cgc p.G62R DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.G62R|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 62 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCCAATCCGCGGCCGGCGTGG 0.711000 6 42 0 0 1 0 0 PMEL 6490 broad.mit.edu 37 12 56350808 56350808 + Missense_Mutation SNP T T A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:56350808T>A ENST00000548747.1 - 6 1941 c.1279A>T c.(1279-1281)Aca>Tca p.T427S PMEL_ENST00000360714.4_Missense_Mutation_p.T427S|PMEL_ENST00000548493.1_Missense_Mutation_p.T427S|PMEL_ENST00000552882.1_Missense_Mutation_p.T427S|PMEL_ENST00000536427.1_Missense_Mutation_p.T385S|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000449260.2_Missense_Mutation_p.T427S|PMEL_ENST00000550464.1_Missense_Mutation_p.T341S|PMEL_ENST00000539511.1_Missense_Mutation_p.T341S P40967 PMEL_HUMAN premelanosome protein 427 10 X 13 AA approximate tandem repeats, RPT domain. melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCTCTAGCTGTGGtctccacc 0.493000 5 40 0 0 1 0 0 CDCP2 200008 broad.mit.edu 37 1 54607069 54607069 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:54607069G>A ENST00000371330.1 - 3 1312 c.465C>T c.(463-465)gtC>gtT p.V155V RP11-446E24.4_ENST00000525949.1_5'UTR NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 155 CUB 2. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 GACTGGTGAGGACCCCTGACA 0.607000 8 29 0 0 1 0 0 HSPA2 3306 broad.mit.edu 37 14 65008290 65008290 + Silent SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:65008290G>T ENST00000247207.6 + 1 1105 c.723G>T c.(721-723)gtG>gtT p.V241V HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000394709.1_Silent_p.V241V NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 241 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) ACCGCATGGTGAGCCACCTGG 0.647000 5 77 2.0095e-06 2.13942e-06 1 1 0 ACAN 176 broad.mit.edu 37 15 89400509 89400509 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:89400509G>A ENST00000439576.2 + 12 5067 c.4693G>A c.(4693-4695)Gac>Aac p.D1565N ACAN_ENST00000559004.1_Missense_Mutation_p.D1565N|ACAN_ENST00000561243.1_Missense_Mutation_p.D1565N|ACAN_ENST00000352105.7_Missense_Mutation_p.D1565N NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1565 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGTAGGGACTGACCTCAGTGG 0.522000 11 51 0 0 1 0 0 NME8 51314 broad.mit.edu 37 7 37889995 37889995 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:37889995C>G ENST00000199447.4 + 4 421 c.49C>G c.(49-51)Caa>Gaa p.Q17E EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.Q17E NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 17 Thioredoxin. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity CATCAATAATCAAAGCCTGTG 0.488000 25 139 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42058385 42058385 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:42058385C>T ENST00000219905.7 + 24 8286 c.8105C>T c.(8104-8106)tCt>tTt p.S2702F MGA_ENST00000570161.1_Missense_Mutation_p.S2702F|MGA_ENST00000545763.1_Missense_Mutation_p.S2493F|MGA_ENST00000566586.1_Missense_Mutation_p.S2493F|MGA_ENST00000389936.4_Missense_Mutation_p.S2663F NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2663 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GGTAGAATCTCTTCCAGAGGA 0.428000 5 22 0 0 1 0 0 OR4F15 390649 broad.mit.edu 37 15 102358936 102358936 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:102358936C>T ENST00000332238.4 + 1 571 c.547C>T c.(547-549)Cgg>Tgg p.R183W NM_001001674.1 NP_001001674.1 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, member 15 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TGATCTCCCTCGGCTCCTCAG 0.428000 19 132 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84270599 84270599 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:84270599C>T ENST00000428679.2 - 27 3103 c.2510G>A c.(2509-2511)gGa>gAa p.G837E SNAP91_ENST00000520302.1_Missense_Mutation_p.G807E|SNAP91_ENST00000369694.2_Missense_Mutation_p.G837E|SNAP91_ENST00000520213.1_Missense_Mutation_p.G530E|SNAP91_ENST00000521743.1_Missense_Mutation_p.G837E|SNAP91_ENST00000437520.1_Missense_Mutation_p.G530E|SNAP91_ENST00000439399.2_Missense_Mutation_p.G837E|SNAP91_ENST00000521485.1_Missense_Mutation_p.G832E|SNAP91_ENST00000195649.6_Missense_Mutation_p.G832E O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 837 Pro-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding p.G837A(4) breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) AAATCCTGCTCCAGGTTGTCC 0.418000 3 23 0 0 1 0 0 NSUN3 63899 broad.mit.edu 37 3 93803224 93803224 + Silent SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:93803224G>T ENST00000314622.4 + 3 607 c.396G>T c.(394-396)ggG>ggT p.G132G NM_022072.3 NP_071355.1 Q9H649 NSUN3_HUMAN NOP2/Sun domain family, member 3 132 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 TAAGGGATGGGGAGAAGGTTC 0.448000 7 66 1.06961e-07 1.15369e-07 1 1 0 TYW1B 441250 broad.mit.edu 37 7 72178588 72178588 + RNA SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:72178588G>A ENST00000438125.1 - 0 974 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CCTGATTTCCGCAGGAAATTG 0.413000 6 51 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126240528 126240528 + Missense_Mutation SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:126240528G>T ENST00000394329.3 + 1 2975 c.2962G>T c.(2962-2964)Gat>Tat p.D988Y NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 988 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TTATGTCCATGATGTAAATGA 0.428000 14 96 3.27435e-08 3.53945e-08 1 1 0 TET1 80312 broad.mit.edu 37 10 70405188 70405188 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:70405188C>T ENST00000373644.4 + 4 2911 c.2702C>T c.(2701-2703)tCa>tTa p.S901L NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 901 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 ACTCAACTCTCAGAAGCCCCA 0.453000 35 234 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129151307 129151307 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:129151307G>C ENST00000507208.1 - 7 1905 c.1704C>G c.(1702-1704)gtC>gtG p.V568V MBD4_ENST00000393278.2_Intron|MBD4_ENST00000249910.1_Intron|MBD4_ENST00000503197.1_Intron|MBD4_ENST00000429544.2_Intron NM_001276271.1 NP_001263200.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 0 D -> H (in dbSNP:rs2307293). depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 TTGCCTCAGAGACCAAATGTG 0.423000 Base excision repair (BER), DNA glycosylases 12 69 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29455369 29455369 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:29455369G>A ENST00000377127.3 - 1 369 c.311C>T c.(310-312)gCc>gTc p.A104V NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 104 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGATTCGTGGCCCCACAGCA 0.547000 14 33 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57756644 57756644 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:57756644C>G ENST00000371236.2 - 2 322 c.59G>C c.(58-60)aGa>aCa p.R20T DAB1_ENST00000439789.2_Missense_Mutation_p.R20T|DAB1_ENST00000371234.4_Missense_Mutation_p.R20T|DAB1_ENST00000420954.2_Missense_Mutation_p.R20T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Missense_Mutation_p.R20T|DAB1_ENST00000414851.2_Missense_Mutation_p.R20T|DAB1_ENST00000371231.1_Missense_Mutation_p.R20T O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 20 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 ACCTTTCTTTCTGGAGTCTTT 0.398000 8 47 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183201866 183201866 + Silent SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:183201866C>G ENST00000264144.4 + 14 2159 c.2094C>G c.(2092-2094)ctC>ctG p.L698L LAMC2_ENST00000493293.1_Silent_p.L698L NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 698 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 TGGATGACCTCAAGATGACTG 0.552000 5 113 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6141576 6141576 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:6141576C>G ENST00000586696.1 + 2 298 c.22C>G c.(22-24)Caa>Gaa p.Q8E ACSBG2_ENST00000591403.1_Missense_Mutation_p.Q8E|ACSBG2_ENST00000588304.1_5'UTR|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.Q8E Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 8 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCCAAAGACTCAAGAAGGAGC 0.448000 7 46 0 0 1 0 0 DNAJC8 22826 broad.mit.edu 37 1 28559461 28559461 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:28559461C>T ENST00000263697.4 - 1 75 c.49G>A c.(49-51)Gag>Aag p.E17K DNAJC8_ENST00000489277.1_5'UTR NM_014280.2 NP_055095.2 O75937 DNJC8_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 8 17 nuclear mRNA splicing, via spliceosome|protein folding nucleoplasm heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649) AATGCTTCCTCGGTGCTGCCT 0.632000 6 65 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173997312 173997312 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:173997312C>T ENST00000457714.1 + 6 1950 c.1521C>T c.(1519-1521)gaC>gaT p.D507D NLGN1_ENST00000401917.3_Silent_p.D547D|NLGN1_ENST00000361589.4_Silent_p.D507D|NLGN1_ENST00000545397.1_Silent_p.D507D NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 524 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.D507D(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CCCACGGAGACGAGGTTCCCT 0.453000 4 61 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128930293 128930293 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:128930293C>T ENST00000375990.3 + 29 3582 c.3179C>T c.(3178-3180)tCt>tTt p.S1060F UGGT1_ENST00000259253.6_Missense_Mutation_p.S1084F Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 1084 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ATGGTAGAATCTGTCAGAACA 0.358000 10 79 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66205295 66205295 + Missense_Mutation SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:66205295G>T ENST00000503581.1 - 4 546 c.9C>A c.(7-9)gaC>gaA p.D3E EYS_ENST00000393380.2_Missense_Mutation_p.D3E|EYS_ENST00000342421.5_Missense_Mutation_p.D3E|EYS_ENST00000370616.2_Missense_Mutation_p.D3E|EYS_ENST00000370618.3_Missense_Mutation_p.D3E|EYS_ENST00000370621.3_Missense_Mutation_p.D3E NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 3 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CGATTGATTTGTCAGTCATTT 0.373000 48 33 1.00776e-21 1.12887e-21 1 1 0 MLH3 27030 broad.mit.edu 37 14 75514858 75514858 + Missense_Mutation SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:75514858A>G ENST00000355774.2 - 2 1716 c.1501T>C c.(1501-1503)Tgt>Cgt p.C501R MLH3_ENST00000556740.1_Missense_Mutation_p.C501R|MLH3_ENST00000238662.7_Missense_Mutation_p.C501R|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.C501R NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 501 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) CTGGTTCCACACGGATTTTCT 0.368000 Mismatch excision repair (MMR) 11 88 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61542690 61542690 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr20:61542690G>C ENST00000266070.4 - 3 600 c.275C>G c.(274-276)tCc>tGc p.S92C DIDO1_ENST00000370371.4_Missense_Mutation_p.S92C|DIDO1_ENST00000370368.1_Missense_Mutation_p.S92C|DIDO1_ENST00000266071.5_Missense_Mutation_p.S92C|DIDO1_ENST00000354665.4_Missense_Mutation_p.S92C|DIDO1_ENST00000395343.1_Missense_Mutation_p.S92C|DIDO1_ENST00000395335.2_Missense_Mutation_p.S92C|DIDO1_ENST00000370366.1_Missense_Mutation_p.S92C|DIDO1_ENST00000395340.1_Missense_Mutation_p.S92C NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 92 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ATCCTCCAGGGAGACAGGCAT 0.692000 9 38 0 0 1 0 0 MPRIP 23164 broad.mit.edu 37 17 17076067 17076067 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:17076067G>C ENST00000395811.5 + 17 2456 c.2367G>C c.(2365-2367)aaG>aaC p.K789N MPRIP_ENST00000395804.3_Missense_Mutation_p.K789N|MPRIP_ENST00000341712.4_Missense_Mutation_p.K789N|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.K751N NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 789 Interaction with RHOA. cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 AGCTGGAGAAGAGCCAGCGGT 0.652000 20 80 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49443973 49443973 + Nonsense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:49443973G>C ENST00000301067.7 - 11 3397 c.3398C>G c.(3397-3399)tCa>tGa p.S1133* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CTCTGGCTGTGAACCCGGAGC 0.637000 9 23 0 0 1 0 0 HIST1H2BG 8339 broad.mit.edu 37 6 26216705 26216705 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:26216705G>A ENST00000244601.3 - 1 167 c.167C>T c.(166-168)tCa>tTa p.S56L NM_003518.3 NP_003509.1 P62807 H2B1C_HUMAN histone cluster 1, H2bg 56 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(11;0.196) GGCCTTGGATGAGATGCCAGT 0.537000 30 194 0 0 1 0 0 CAMKMT 79823 broad.mit.edu 37 2 44931436 44931436 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:44931436G>C ENST00000378494.3 + 4 435 c.391G>C c.(391-393)Gaa>Caa p.E131Q NM_024766.3 NP_079042.1 Q7Z624 CMKMT_HUMAN calmodulin-lysine N-methyltransferase 131 cytoplasm calmodulin-lysine N-methyltransferase activity breast(2)|large_intestine(3)|lung(5) 10 CTGGCCATCTGAAGAGGTTTT 0.353000 8 73 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50163416 50163416 + RNA SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chrX:50163416C>A ENST00000376025.2 - 0 986 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) AAATTTCTCCCTGTTGGATGG 0.353000 11 35 5.50884e-06 5.82734e-06 1 1 0 GOLGA2 2801 broad.mit.edu 37 9 131027891 131027891 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr9:131027891G>C ENST00000421699.2 - 11 837 c.825C>G c.(823-825)gtC>gtG p.V275V NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 275 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 GCTGCGTGGAGACAGCAGAGA 0.602000 8 36 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092206 30092206 + RNA SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr18:30092206C>A ENST00000567636.1 + 0 581 NR_003558.1 GAATGCCCAGCACGTGGAAGT 0.423000 4 4 0.150653 0.151266 1 1 0 CYP4F12 66002 broad.mit.edu 37 19 15794516 15794516 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:15794516C>G ENST00000550308.1 + 7 1241 c.861C>G c.(859-861)ttC>ttG p.F287L CYP4F12_ENST00000324632.9_Missense_Mutation_p.F287L NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) ATGATTTTTTCAAAGACAAAG 0.507000 19 99 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75936882 75936882 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:75936882G>C ENST00000274364.6 + 17 2345 c.2048G>C c.(2047-2049)aGa>aCa p.R683T IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 683 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TTTGAAGCTAGAAAATCATTT 0.408000 6 34 0 0 1 0 0 TMC4 147798 broad.mit.edu 37 19 54668242 54668242 + Missense_Mutation SNP G G C rs140280199 TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:54668242G>C ENST00000376591.4 - 7 1188 c.1057C>G c.(1057-1059)Ctg>Gtg p.L353V TMC4_ENST00000301187.4_Missense_Mutation_p.L347V NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 353 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) ACCACCAGCAGGTTGAGCAGC 0.672000 28 144 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109155467 109155467 + Missense_Mutation SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:109155467A>G ENST00000261483.4 + 14 3259 c.2207A>G c.(2206-2208)tAt>tGt p.Y736C NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 736 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TATGTCTTGTATAAGAATAAA 0.328000 27 127 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013431 73013431 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:73013431C>A ENST00000308744.6 + 4 1569 c.1471C>A c.(1471-1473)Cat>Aat p.H491N NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.H389N|NPFFR2_ENST00000395999.1_Missense_Mutation_p.H392N NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 491 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity p.H491D(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TCAAAACCCTCATGGGGAAAC 0.378000 98 64 3.53432e-41 3.99532e-41 1 1 0 RAVER1 125950 broad.mit.edu 37 19 10444069 10444069 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:10444069G>A ENST00000293677.6 - 1 247 c.166C>T c.(166-168)Cta>Tta p.L56L NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 39 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) TCTGGATCTAGAGGCGGCAGC 0.667000 6 73 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15116352 15116352 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:15116352C>T ENST00000253699.3 - 14 1905 c.1292G>A c.(1291-1293)cGc>cAc p.R431H ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R431H NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 431 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 AGGGCCCCTGCGGAGAGATGC 0.657000 13 37 0 0 1 0 0 ZNF420 147923 broad.mit.edu 37 19 37618875 37618875 + Missense_Mutation SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:37618875A>G ENST00000337995.3 + 5 1197 c.982A>G c.(982-984)Att>Gtt p.I328V ZNF420_ENST00000304239.7_Missense_Mutation_p.I328V|ZNF585A_ENST00000588723.1_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 328 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACATCAGAAAATTCATAATGG 0.388000 41 70 0 0 1 0 0 SYPL1 6856 broad.mit.edu 37 7 105733542 105733542 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:105733542C>T ENST00000455385.2 - 4 566 c.444G>A c.(442-444)gtG>gtA p.V148V SYPL1_ENST00000470347.1_Silent_p.V148V|SYPL1_ENST00000011473.2_Silent_p.V166V NM_182715.2 NP_874384.1 Q16563 SYPL1_HUMAN synaptophysin-like 1 166 MARVEL. synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 7 CTGAAGTGCTCACCAACCACA 0.343000 9 23 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432443 140432443 + Missense_Mutation SNP A A C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:140432443A>C ENST00000306549.3 + 1 1465 c.1388A>C c.(1387-1389)gAa>gCa p.E463A NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 463 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTGTTCGAGAAAACAACAGT 0.418000 25 83 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4042260 4042260 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr16:4042260C>G ENST00000294016.3 - 5 2632 c.2094G>C c.(2092-2094)gaG>gaC p.E698D ADCY9_ENST00000571889.1_5'UTR NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 698 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 ACCTTCCCTTCTCCTGCAAGA 0.567000 9 76 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193232601 193232601 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:193232601G>C ENST00000342695.4 - 2 442 c.120C>G c.(118-120)atC>atG p.I40M ATP13A4_ENST00000295548.3_Missense_Mutation_p.I40M|ATP13A4_ENST00000392443.3_Missense_Mutation_p.I40M NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 40 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CAAATGAGAAGATGGATCCGG 0.478000 15 97 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102305092 102305092 + RNA SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:102305092A>G ENST00000561463.1 + 0 13138 CATGAACACCATCAGCACAGC 0.632000 3 25 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82785939 82785939 + Translation_Start_Site SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:82785939G>A ENST00000512590.2 + 0 359 VCAN_ENST00000502527.2_Silent_p.P31P|VCAN_ENST00000265077.3_Silent_p.P31P|VCAN_ENST00000342785.4_Silent_p.P31P|VCAN_ENST00000343200.5_Silent_p.P31P|VCAN_ENST00000513984.1_Silent_p.P31P P13611 CSPG2_HUMAN versican cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAAGCCCACCGGTGAGGGGCT 0.408000 12 56 0 0 1 0 0 OR52N5 390075 broad.mit.edu 37 11 5799213 5799213 + Missense_Mutation SNP A A T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:5799213A>T ENST00000317093.2 - 1 684 c.652T>A c.(652-654)Ttt>Att p.F218I TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) CAAATGTCAAACACTCCAATC 0.453000 15 49 0 0 1 0 0 HMG20B 10362 broad.mit.edu 37 19 3576599 3576599 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:3576599G>A ENST00000333651.6 + 7 643 c.568G>A c.(568-570)Gaa>Aaa p.E190K NM_006339.2 NP_006330.2 Q9P0W2 HM20B_HUMAN high mobility group 20B 190 blood coagulation|cell cycle|chromatin modification chromosome|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity cervix(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) CATCTTCACTGAAGAGTTCTT 0.582000 5 46 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22157097 22157097 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:22157097G>C ENST00000397126.4 - 4 887 c.739C>G c.(739-741)Cat>Gat p.H247D ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ATTACCTTATGTTTAGTAAGG 0.353000 10 49 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187177228 187177228 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:187177228C>A ENST00000264690.6 + 13 1759 c.1572C>A c.(1570-1572)ttC>ttA p.F524L KLKB1_ENST00000513864.1_Missense_Mutation_p.F524L NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 524 Peptidase S1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GATGGGGCTTCTCGAAGGAGA 0.388000 13 29 0.0202918 0.0204993 1 1 0 IFT172 26160 broad.mit.edu 37 2 27676309 27676309 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:27676309C>A ENST00000260570.3 - 35 3996 c.3893G>T c.(3892-3894)tGc>tTc p.C1298F NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1298 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TTTGAGGTAGCAGTCCACGGC 0.607000 17 77 1.67942e-08 1.82337e-08 1 1 0 CADM4 199731 broad.mit.edu 37 19 44127506 44127506 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:44127506C>G ENST00000222374.2 - 9 1191 c.1143G>C c.(1141-1143)aaG>aaC p.K381N NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 381 cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) CCTCTTTCCTCTTGTGTCCGT 0.592000 35 130 0 0 1 0 0 CPQ 10404 broad.mit.edu 37 8 98078254 98078254 + Nonsense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:98078254C>A ENST00000220763.5 + 7 1281 c.1071C>A c.(1069-1071)taC>taA p.Y357* CPQ_ENST00000529551.1_3'UTR NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 357 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity TTTCCAACTACAGTCTGGTGA 0.443000 8 63 7.48243e-07 8.01805e-07 1 1 0 PREX2 80243 broad.mit.edu 37 8 69104621 69104621 + Missense_Mutation SNP T T C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:69104621T>C ENST00000288368.4 + 37 4742 c.4465T>C c.(4465-4467)Ttt>Ctt p.F1489L NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1489 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GGTAGCCTCGTTTATCAGATC 0.483000 10 54 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124982286 124982286 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:124982286C>T ENST00000522917.1 + 6 602 c.396C>T c.(394-396)ttC>ttT p.F132F FER1L6_ENST00000399018.1_Silent_p.F132F NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 132 C2 1. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ACTTTGTCTTCGACTTCATTG 0.413000 13 113 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5649944 5649944 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:5649944G>A ENST00000292123.5 + 8 1263 c.1156G>A c.(1156-1158)Gaa>Aaa p.E386K SAFB_ENST00000588852.1_Missense_Mutation_p.E386K|SAFB_ENST00000538656.1_Missense_Mutation_p.E229K|SAFB_ENST00000433404.1_Missense_Mutation_p.E216K|SAFB_ENST00000454510.1_Missense_Mutation_p.E317K|SAFB_ENST00000592224.1_Missense_Mutation_p.E386K|SAFB_ENST00000586934.1_3'UTR NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 386 chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) TAGTTCTCCCGAAGATGACTC 0.498000 7 54 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25479306 25479306 + RNA SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:25479306C>A ENST00000453082.2 + 0 1847 NR_003343.1 CTGACCCTTCCTGACTCCGTG 0.607000 13 70 5.50884e-06 5.82734e-06 1 1 0 MYO1H 283446 broad.mit.edu 37 12 109838970 109838970 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:109838970G>C ENST00000310903.5 + 6 701 c.595G>C c.(595-597)Gag>Cag p.E199Q MYO1H_ENST00000431443.2_Missense_Mutation_p.E199Q B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 AAACGAAGGCGAGCGGAATTT 0.507000 7 33 0 0 1 0 0 CLIP3 25999 broad.mit.edu 37 19 36508835 36508835 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:36508835G>C ENST00000360535.4 - 10 1469 c.1242C>G c.(1240-1242)gcC>gcG p.A414A AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.A414A NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 414 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCTCAGCCTTGGCCCCGTCAC 0.612000 8 71 0 0 1 0 0 B2M 567 broad.mit.edu 37 15 45007842 45007842 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:45007842G>A ENST00000558401.1 + 2 359 c.289G>A c.(289-291)Gag>Aag p.E97K B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.E97K|B2M_ENST00000544417.1_Missense_Mutation_p.E97K NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 97 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.E97K(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TGAAAAAGATGAGTATGCCTG 0.418000 26 80 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93593126 93593126 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:93593126G>A ENST00000394236.3 - 15 2310 c.1994C>T c.(1993-1995)tCa>tTa p.S665L PROS1_ENST00000407433.1_Missense_Mutation_p.S534L NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 665 Laminin G-like 2. S -> L (in PROS1D). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TGATGGACATGAGTGAGCTCT 0.333000 7 44 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220416900 220416900 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:220416900C>T ENST00000404537.1 - 19 5403 c.5347G>A c.(5347-5349)Gag>Aag p.E1783K OBSL1_ENST00000373876.1_Missense_Mutation_p.E1691K|OBSL1_ENST00000265318.4_3'UTR NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1783 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CCGGCGTCCTCGGCGCGCAGC 0.662000 3 14 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891323 44891323 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:44891323G>A ENST00000330997.4 - 4 1148 c.1084C>T c.(1084-1086)Cat>Tat p.H362Y CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.H362Y|ZNF285_ENST00000591679.1_Missense_Mutation_p.H369Y NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 ACTCCCTGATGAATACAAAGA 0.473000 12 52 0 0 1 0 0 MGAT4A 11320 broad.mit.edu 37 2 99256635 99256635 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:99256635G>A ENST00000393487.1 - 11 1390 c.1077C>T c.(1075-1077)ttC>ttT p.F359F MGAT4A_ENST00000409391.1_Silent_p.F359F|MGAT4A_ENST00000414521.2_Silent_p.F231F|MGAT4A_ENST00000264968.2_Silent_p.F359F NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 359 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 CAACATGTTGGAAAAGGGAAG 0.333000 5 41 0 0 1 0 0 RIN2 54453 broad.mit.edu 37 20 19937259 19937259 + Splice_Site SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr20:19937259C>G ENST00000255006.6 + 4 455 c.305_splice c.e4-1 p.S102_splice RIN2_ENST00000440354.2_Splice_Site_p.S53_splice|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 53 SH2. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 TTTCTCCTAGCATGGTAAGAC 0.557000 5 19 0 0 1 0 0 FRMD6 122786 broad.mit.edu 37 14 52188791 52188791 + Silent SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:52188791A>G ENST00000395718.2 + 12 1746 c.1461A>G c.(1459-1461)ggA>ggG p.G487G FRMD6_ENST00000553556.1_Silent_p.G137G|FRMD6_ENST00000356218.4_Silent_p.G487G|FRMD6_ENST00000344768.5_Silent_p.G495G|FRMD6_ENST00000554167.1_Silent_p.G418G NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 495 cytoskeleton|mitochondrion|plasma membrane binding p.G487G(1) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) AGCTGAATGGACACTCTGGTG 0.507000 3 54 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201355802 201355802 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:201355802C>T ENST00000391967.2 - 3 988 c.687G>A c.(685-687)aaG>aaA p.K229K LAD1_ENST00000367313.3_Silent_p.K243K NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 229 8 X SEK repeats. basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 GAACAGACTTCTTCTCTGAGC 0.493000 29 229 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137154323 137154323 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:137154323G>A ENST00000453654.1 - 25 2109 c.1570C>T c.(1570-1572)Ctc>Ttc p.L524F DGKI_ENST00000424189.2_Missense_Mutation_p.L827F|DGKI_ENST00000288490.5_Missense_Mutation_p.L824F|DGKI_ENST00000446122.1_Missense_Mutation_p.L806F O75912 DGKI_HUMAN diacylglycerol kinase, iota 824 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CGAGGAGAGAGCCTCTGTGCT 0.527000 7 34 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93825 93825 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:93825G>C ENST00000447903.2 - 4 606 c.291C>G c.(289-291)atC>atG p.I97M TUBB8_ENST00000309812.4_Missense_Mutation_p.I169M|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 169 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) GCGAGGGCAGGATGCTGAATG 0.577000 7 237 0 0 1 0 0 USP1 7398 broad.mit.edu 37 1 62915974 62915974 + Silent SNP T T A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:62915974T>A ENST00000339950.4 + 9 2495 c.1680T>A c.(1678-1680)ctT>ctA p.L560L USP1_ENST00000371146.1_Silent_p.L560L NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 560 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) TGACACCTCTTAAATTGTCAC 0.388000 34 84 0 0 1 0 0 NR1H3 10062 broad.mit.edu 37 11 47290154 47290154 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:47290154G>C ENST00000467728.1 + 9 2489 c.1251G>C c.(1249-1251)ctG>ctC p.L417L NR1H3_ENST00000405853.3_Silent_p.L357L|NR1H3_ENST00000527949.1_Silent_p.L266L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Silent_p.L312L|NR1H3_ENST00000441012.2_Silent_p.L417L|NR1H3_ENST00000407404.1_Silent_p.L357L|NR1H3_ENST00000395397.3_Silent_p.L372L|NR1H3_ENST00000481889.2_Silent_p.L436L Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 417 Ligand-binding (Potential). apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 TCCGGACCCTGAGCAGCGTCC 0.552000 10 94 0 0 1 0 0 RNF103 7844 broad.mit.edu 37 2 86832164 86832164 + Nonsense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:86832164G>C ENST00000237455.4 - 4 1828 c.860C>G c.(859-861)tCa>tGa p.S287* AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 287 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 AAGTATGTATGATGGCATATT 0.338000 5 60 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23399802 23399802 + Nonsense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:23399802C>G ENST00000400181.4 + 15 1744 c.1640C>G c.(1639-1641)tCa>tGa p.S547* RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Nonsense_Mutation_p.S523*|KDM1A_ENST00000542151.1_Nonsense_Mutation_p.S547* NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 523 Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TATCTCTCATCAAGAGACAGA 0.388000 14 106 0 0 1 0 0 DYNC1LI2 1783 broad.mit.edu 37 16 66776474 66776474 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr16:66776474G>A ENST00000258198.2 - 4 602 c.396C>T c.(394-396)ctC>ctT p.L132L DYNC1LI2_ENST00000443351.2_Intron|DYNC1LI2_ENST00000440564.2_Silent_p.L93L|DYNC1LI2_ENST00000379482.2_Silent_p.L132L NM_006141.2 NP_006132.1 O43237 DC1L2_HUMAN dynein, cytoplasmic 1, light intermediate chain 2 132 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1) 15 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) CAAAAATGACGAGGGTCTCTG 0.453000 18 86 0 0 1 0 0 HOXB8 3218 broad.mit.edu 37 17 46690726 46690726 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:46690726G>C ENST00000239144.4 - 2 804 c.570C>G c.(568-570)gtC>gtG p.V190V HOXB8_ENST00000576562.1_Silent_p.V189V|HOXB7_ENST00000567101.1_Intron NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 190 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 ACCAGATTTTGACCTGTCTCT 0.507000 14 100 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238253245 238253245 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:238253245C>T ENST00000295550.4 - 36 7868 c.7416G>A c.(7414-7416)aaG>aaA p.K2472K COL6A3_ENST00000353578.4_Silent_p.K2266K|COL6A3_ENST00000409809.1_Silent_p.K2266K|COL6A3_ENST00000472056.1_Silent_p.K1865K|COL6A3_ENST00000347401.3_Silent_p.K2271K|COL6A3_ENST00000346358.4_Silent_p.K2272K NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2472 Nonhelical region.|VWFA 11. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGTTCTTAATCTTGTCCAGGA 0.562000 8 73 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256172 140256172 + Missense_Mutation SNP T T G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:140256172T>G ENST00000398631.2 + 1 1115 c.1115T>G c.(1114-1116)aTt>aGt p.I372S PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTGCCCTGATTAGCGTGTCG 0.507000 18 104 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133925338 133925338 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:133925338G>A ENST00000220616.4 + 20 4246 c.4206G>A c.(4204-4206)ctG>ctA p.L1402L TG_ENST00000377869.1_Silent_p.L1402L NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1402 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCACAGATCTGATCCAGAGTG 0.562000 12 57 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25464361 25464361 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:25464361G>A ENST00000376351.3 + 1 371 c.12G>A c.(10-12)atG>atA p.M4I GPR158-AS1_ENST00000449643.1_RNA NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 4 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGGGAGCCATGGCTTACCCCT 0.572000 11 65 0 0 1 0 0 LHFPL1 340596 broad.mit.edu 37 X 111914334 111914334 + Silent SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chrX:111914334C>A ENST00000371968.3 - 2 524 c.285G>T c.(283-285)ctG>ctT p.L95L LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.L95L NM_178175.3 NP_835469.1 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 95 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6) 13 CCACCAGGAGCAGCAGAGCAC 0.582000 9 45 3.09899e-07 3.33529e-07 1 1 0 OR2T27 403239 broad.mit.edu 37 1 248814164 248814164 + Missense_Mutation SNP C C T rs144642254 TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:248814164C>T ENST00000344889.3 - 1 21 c.22G>A c.(22-24)Gtg>Atg p.V8M NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCGGCATACACGGAATAATTG 0.433000 3 42 0 0 1 0 0 MORF4L1 10933 broad.mit.edu 37 15 79183867 79183867 + Nonsense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:79183867C>T ENST00000331268.5 + 8 712 c.508C>T c.(508-510)Cag>Tag p.Q170* MORF4L1_ENST00000426013.2_Nonsense_Mutation_p.Q131*|MORF4L1_ENST00000558746.1_Nonsense_Mutation_p.Q104*|MORF4L1_ENST00000559345.1_Nonsense_Mutation_p.Q43*|MORF4L1_ENST00000558502.1_Nonsense_Mutation_p.Q43*|MORF4L1_ENST00000379535.4_Nonsense_Mutation_p.Q156*|MORF4L1_ENST00000561171.1_Intron NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 170 Interaction with RB1-1.|Sufficient for interaction with SIN3A. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 TGAGACCCCTCAGCCTCCTCG 0.433000 12 54 0 0 1 0 0 BOLA1 51027 broad.mit.edu 37 1 149871895 149871895 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:149871895G>A ENST00000369153.2 + 3 947 c.283G>A c.(283-285)Gag>Aag p.E95K BOLA1_ENST00000369152.5_Missense_Mutation_p.E95K|BOLA1_ENST00000369150.1_Missense_Mutation_p.E95K|BOLA1_ENST00000476344.1_3'UTR Q9Y3E2 BOLA1_HUMAN bolA family member 1 95 extracellular region protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) AGCGCTGGCCGAGGAGCTGGG 0.672000 7 45 0 0 1 0 0 LMNB1 4001 broad.mit.edu 37 5 126171934 126171934 + Missense_Mutation SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:126171934A>G ENST00000261366.5 + 11 2100 c.1739A>G c.(1738-1740)aAt>aGt p.N580S LMNB1_ENST00000460265.1_3'UTR NM_001198557.1|NM_005573.3 NP_001185486.1|NP_005564.1 P20700 LMNB1_HUMAN lamin B1 580 Tail. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) AGAGCATCCAATAGAAGCTGT 0.328000 15 105 0 0 1 0 0 TAF1A 9015 broad.mit.edu 37 1 222750892 222750892 + Nonsense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:222750892C>A ENST00000350027.4 - 5 652 c.499G>T c.(499-501)Gaa>Taa p.E167* TAF1A_ENST00000366890.1_Nonsense_Mutation_p.E53*|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000543857.1_Nonsense_Mutation_p.E167*|TAF1A_ENST00000352967.4_Nonsense_Mutation_p.E167*|TAF1A_ENST00000391882.1_Nonsense_Mutation_p.E53* NM_001201536.1 NP_001188465.1 Q15573 TAF1A_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa 167 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) GACGTATTTTCACCATGTCTC 0.383000 14 95 0.435327 0.435327 1 1 0 APBA3 9546 broad.mit.edu 37 19 3759710 3759710 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:3759710C>G ENST00000316757.3 - 2 753 c.553G>C c.(553-555)Gaa>Caa p.E185Q NM_004886.3 NP_004877.1 O96018 APBA3_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 3 185 intracellular signal transduction|protein transport intracellular|membrane protein binding endometrium(1)|large_intestine(1)|skin(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) GGTGGCTCTTCAGGTGTGACT 0.662000 10 46 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211539656 211539656 + Missense_Mutation SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:211539656G>T ENST00000233072.5 + 35 4328 c.4132G>T c.(4132-4134)Gct>Tct p.A1378S CPS1_ENST00000430249.2_Missense_Mutation_p.A1384S|CPS1_ENST00000451903.2_Missense_Mutation_p.A927S NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1378 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CCTTGGTGTGGCTGAACAATT 0.343000 16 51 9.7654e-05 0.000100923 1 1 0 NRROS 375387 broad.mit.edu 37 3 196388126 196388126 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:196388126C>G ENST00000328557.4 + 3 1815 c.1612C>G c.(1612-1614)Ctc>Gtc p.L538V NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species GTTTGGGAATCTCAGGGACTT 0.567000 29 213 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155507691 155507691 + Missense_Mutation SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:155507691G>T ENST00000302053.3 - 5 968 c.890C>A c.(889-891)tCt>tAt p.S297Y FGA_ENST00000403106.3_Missense_Mutation_p.S297Y NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 297 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AGAGCTCCCAGAGTTCCAGCT 0.572000 13 98 1.49906e-05 1.57561e-05 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152716766 152716766 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:152716766C>G ENST00000367255.5 - 51 8198 c.7597G>C c.(7597-7599)Gaa>Caa p.E2533Q SYNE1_ENST00000448038.1_Missense_Mutation_p.E2540Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2540Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2533Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2572Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2533 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCTTCCATTTCATGGATCCAT 0.338000 HNSCC(10;0.0054) 4 87 0 0 1 0 0 GLB1L2 89944 broad.mit.edu 37 11 134240970 134240970 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:134240970C>T ENST00000535456.2 + 13 1472 c.1284C>T c.(1282-1284)ttC>ttT p.F428F GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Silent_p.F428F|GLB1L2_ENST00000339772.7_Silent_p.F428F NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 428 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) GACAGTCCTTCGGGTACATTC 0.537000 4 77 0 0 1 0 0 QDPR 5860 broad.mit.edu 37 4 17506017 17506017 + Missense_Mutation SNP T T G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:17506017T>G ENST00000281243.5 - 3 459 c.280A>C c.(280-282)Aat>Cat p.N94H QDPR_ENST00000428702.2_Missense_Mutation_p.N63H|QDPR_ENST00000513615.1_Missense_Mutation_p.N94H|QDPR_ENST00000508623.1_Missense_Mutation_p.N94H NM_000320.2 NP_000311.2 P09417 DHPR_HUMAN quinoid dihydropteridine reductase 94 dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 13 NADH(DB00157) GATTTGGCATTGCCCCCGGCC 0.498000 7 40 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50339699 50339699 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr16:50339699C>A ENST00000394697.2 + 14 2031 c.1691C>A c.(1690-1692)tCc>tAc p.S564Y ADCY7_ENST00000566433.2_Missense_Mutation_p.S564Y|ADCY7_ENST00000538642.1_Missense_Mutation_p.S564Y|ADCY7_ENST00000537579.1_Silent_p.L430L|ADCY7_ENST00000254235.3_Missense_Mutation_p.S564Y P51828 ADCY7_HUMAN adenylate cyclase 7 564 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CCCTGCTGCTCCAAGTCCGAT 0.662000 8 67 2.17888e-05 2.28044e-05 1 1 0 CARNS1 57571 broad.mit.edu 37 11 67191138 67191138 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:67191138C>A ENST00000445895.2 + 9 2033 c.1919C>A c.(1918-1920)cCa>cAa p.P640Q CARNS1_ENST00000531040.1_Missense_Mutation_p.P614Q|CARNS1_ENST00000524740.1_3'UTR|CARNS1_ENST00000307823.3_Missense_Mutation_p.P517Q|CARNS1_ENST00000423745.2_Missense_Mutation_p.P517Q A5YM72 CRNS1_HUMAN carnosine synthase 1 517 ATP-grasp. carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7) 11 CACCATGGCCCACCCTGGCCT 0.667000 3 16 0.150653 0.151266 1 1 0 WNT9A 7483 broad.mit.edu 37 1 228113135 228113135 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:228113135G>A ENST00000272164.5 - 2 191 c.181C>T c.(181-183)Cgg>Tgg p.R61W WNT9A_ENST00000497852.1_5'UTR NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 61 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) AGCTTCAGCCGGTCGCAGGCC 0.711000 3 18 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515222 195515222 + Missense_Mutation SNP T T C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:195515222T>C ENST00000463781.3 - 2 3688 c.3229A>G c.(3229-3231)Agc>Ggc p.S1077G MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S1077G NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 944 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGAAAGGCTGGTGACAGGA 0.572000 3 1 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194151043 194151043 + Splice_Site SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:194151043A>G ENST00000439040.1 - 25 3417 c.2624_splice c.e25-1 p.Y876_splice ATP13A3_ENST00000256031.4_Splice_Site_p.Y876_splice Q9H7F0 AT133_HUMAN ATPase type 13A3 876 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CCAACAAAATAACTAAGAAAC 0.264000 13 74 0 0 1 0 0 SLAMF9 89886 broad.mit.edu 37 1 159922313 159922313 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:159922313C>G ENST00000368093.3 - 3 519 c.403G>C c.(403-405)Gag>Cag p.E135Q SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 135 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATCTGGGGCTCTGACAGCCAT 0.512000 22 94 0 0 1 0 0 SFTPB 6439 broad.mit.edu 37 2 85892750 85892750 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:85892750C>T ENST00000393822.3 - 6 696 c.597G>A c.(595-597)gcG>gcA p.A199A SFTPB_ENST00000409383.1_Silent_p.A199A|SFTPB_ENST00000342375.3_Silent_p.A187A|SFTPB_ENST00000519937.2_Silent_p.A187A P07988 PSPB_HUMAN surfactant protein B 187 organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 GCCCAGGCCTCGCCTGGAGGG 0.677000 18 89 0 0 1 0 0 TAS2R4 50832 broad.mit.edu 37 7 141478996 141478996 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:141478996C>T ENST00000247881.2 + 1 755 c.708C>T c.(706-708)ctC>ctT p.L236L SSBP1_ENST00000465582.1_Intron NM_016944.1 NP_058640.1 Q9NYW5 TA2R4_HUMAN taste receptor, type 2, member 4 236 sensory perception of taste cilium membrane taste receptor activity endometrium(1)|large_intestine(4)|lung(2) 7 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) TCTATTTCCTCATCCTCTACA 0.448000 15 80 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640702 57640702 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:57640702G>C ENST00000254181.4 + 4 1113 c.659G>C c.(658-660)aGa>aCa p.R220T USP29_ENST00000598197.1_Missense_Mutation_p.R220T NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 220 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.R220T(1) breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAAAAAGATAGAGATTTGAAA 0.363000 8 53 0 0 1 0 0 DUOXA1 90527 broad.mit.edu 37 15 45413348 45413348 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:45413348C>T ENST00000267803.4 - 6 676 c.277G>A c.(277-279)Gag>Aag p.E93K DUOXA1_ENST00000558996.1_Intron|DUOXA1_ENST00000559014.1_Missense_Mutation_p.E93K|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000558422.1_Intron|DUOXA1_ENST00000560572.1_Missense_Mutation_p.E93K NM_144565.2 NP_653166.2 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 93 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) CTGATCCACTCAGAACTGAAG 0.557000 9 44 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44377448 44377448 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:44377448C>A ENST00000587539.1 - 3 917 c.918G>T c.(916-918)aaG>aaT p.K306N ZNF404_ENST00000324394.6_Missense_Mutation_p.K304N NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) GAACAAAGGCCTTTTCACATT 0.383000 9 48 0.000978159 0.00100669 1 1 0 ACTR1B 10120 broad.mit.edu 37 2 98274969 98274969 + Missense_Mutation SNP T T C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:98274969T>C ENST00000289228.5 - 6 794 c.578A>G c.(577-579)tAc>tGc p.Y193C NM_005735.3 NP_005726.1 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, centractin beta (yeast) 193 centrosome|dynactin complex ATP binding|protein binding endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15 GAGTCGGAGGTAGCGGGAGAC 0.602000 6 53 0 0 1 0 0 PI16 221476 broad.mit.edu 37 6 36922648 36922648 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:36922648G>A ENST00000373674.3 + 1 440 c.112G>A c.(112-114)Gag>Aag p.E38K NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 38 extracellular region|integral to membrane peptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTTGATGGTGGAGCTGCACAA 0.612000 12 57 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46009654 46009654 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:46009654G>C ENST00000296137.2 - 8 1377 c.1172C>G c.(1171-1173)cCt>cGt p.P391R FYCO1_ENST00000535325.1_Missense_Mutation_p.P391R NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 391 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) ACTGGGAATAGGTTCTTGCCG 0.557000 24 158 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196198983 196198983 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:196198983G>A ENST00000318037.3 - 6 2017 c.1423C>T c.(1423-1425)Cac>Tac p.H475Y NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 475 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding p.H475D(1) NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) GCGCGTAAGTGATACTCATCT 0.458000 30 288 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159568119 159568119 + Missense_Mutation SNP T T A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:159568119T>A ENST00000307765.5 + 16 1773 c.1522T>A c.(1522-1524)Ttg>Atg p.L508M RXFP1_ENST00000470033.1_Missense_Mutation_p.L475M|RXFP1_ENST00000343542.5_Missense_Mutation_p.L460M|RXFP1_ENST00000448688.2_Missense_Mutation_p.L403M|RXFP1_ENST00000460056.2_Missense_Mutation_p.L427M NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 508 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) ATTTCTGACATTGGAAAAATA 0.388000 14 35 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134621926 134621926 + Nonstop_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:134621926C>G ENST00000368586.5 - 58 8247 c.8147G>C c.(8146-8148)tGa>tCa p.*2716S TTC40_ENST00000263170.5_Nonstop_Mutation_p.*877S NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 0 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 GTGGAACACTCAAATCAAAAA 0.577000 34 157 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5258057 5258057 + Missense_Mutation SNP T T A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:5258057T>A ENST00000372412.4 - 8 913 c.680A>T c.(679-681)tAc>tTc p.Y227F PTPRS_ENST00000262963.6_Missense_Mutation_p.Y226F|PTPRS_ENST00000592099.1_Missense_Mutation_p.Y217F|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Missense_Mutation_p.Y226F|PTPRS_ENST00000357368.4_Missense_Mutation_p.Y226F|PTPRS_ENST00000353284.2_Missense_Mutation_p.Y217F|PTPRS_ENST00000348075.2_Missense_Mutation_p.Y217F|PTPRS_ENST00000588012.1_Missense_Mutation_p.Y217F Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 226 Ig-like C2-type 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) AGGTGAGGAGTAGCGCACGCC 0.627000 54 70 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796485 62796485 + RNA SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:62796485C>G ENST00000582986.1 - 0 1435 NR_024386.1 GGAAACATTTCAGAGCCTCCA 0.547000 3 34 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113638590 113638590 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:113638590G>C ENST00000361127.4 + 7 1096 c.898G>C c.(898-900)Gaa>Caa p.E300Q NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 300 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) GAATGCTATTGAAAGAATCAG 0.458000 11 54 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143100949 143100949 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:143100949C>T ENST00000316549.6 - 13 1685 c.1477G>A c.(1477-1479)Gtg>Atg p.V493M SLC9A9-AS2_ENST00000490153.1_RNA NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 493 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 TCCAGGTCCACGCCAACTCTG 0.438000 11 162 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81248732 81248732 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr16:81248732G>C ENST00000599697.1 - 3 530 c.531C>G c.(529-531)atC>atG p.I177M PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 177 SUEL-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCTGGACCTGGATGACCTGCC 0.637000 OREG0023964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 12 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677480 37677480 + Missense_Mutation SNP T T A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:37677480T>A ENST00000532828.2 - 5 1210 c.959A>T c.(958-960)cAc>cTc p.H320L ZNF585B_ENST00000531805.1_Missense_Mutation_p.H265L|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CACTCTTGTGTGAACACGTTG 0.388000 72 198 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83437633 83437633 + Splice_Site SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:83437633C>G ENST00000334574.8 - 9 1733 c.1553_splice c.e9+1 p.E518_splice FSD2_ENST00000541889.1_Splice_Site_p.E473_splice A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 518 Fibronectin type-III 2. breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 ATGACTCACTCAGTTACACCC 0.532000 3 16 0 0 1 0 0 CTSV 1515 broad.mit.edu 37 9 99799674 99799674 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr9:99799674C>T ENST00000259470.5 - 4 505 c.256G>A c.(256-258)Gaa>Aaa p.E86K CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Missense_Mutation_p.E86K NM_001333.3 NP_001324.2 cathepsin V CTGAATTCTTCATTGGTCTTC 0.423000 7 87 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179579932 179579932 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:179579932G>A ENST00000589042.1 - 90 26205 c.25981C>T c.(25981-25983)Cac>Tac p.H8661Y TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H8344Y|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.H7417Y|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8344 Ig-like 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTCAAGGTGAACATCAGCT 0.413000 11 101 0 0 1 0 0 CAP2 10486 broad.mit.edu 37 6 17539623 17539623 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:17539623G>C ENST00000229922.2 + 8 1292 c.760G>C c.(760-762)Gag>Cag p.E254Q CAP2_ENST00000378990.2_Missense_Mutation_p.E228Q|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.E190Q|CAP2_ENST00000489374.1_Missense_Mutation_p.E142Q NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 254 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding p.E254K(1) breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) AGGCAAAAAAGAGGAATCTTC 0.517000 22 81 0 0 1 0 0 ISL1 3670 broad.mit.edu 37 5 50685661 50685661 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:50685661C>T ENST00000230658.7 + 4 1245 c.660C>T c.(658-660)ctC>ctT p.L220L ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.L220L NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 220 generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) TGACGGGCCTCAGTCCCCGTG 0.572000 5 52 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55254574 55254574 + Nonsense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:55254574G>A ENST00000337526.6 - 3 904 c.661C>T c.(661-663)Caa>Taa p.Q221* RTN4_ENST00000394611.2_Nonsense_Mutation_p.Q15*|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Nonsense_Mutation_p.Q15*|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000405240.1_Nonsense_Mutation_p.Q15*|RTN4_ENST00000404909.1_Nonsense_Mutation_p.Q15*|RTN4_ENST00000402434.2_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 221 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 AAATCCTCTTGACCAGCCGAA 0.448000 16 70 0 0 1 0 0 GCC1 79571 broad.mit.edu 37 7 127224348 127224348 + Missense_Mutation SNP G G A rs139439757 byFrequency TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:127224348G>A ENST00000321407.2 - 1 1313 c.889C>T c.(889-891)Cgt>Tgt p.R297C GCC1_ENST00000497650.1_Intron NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 297 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TCCACCTCACGGGTCAGCTGC 0.542000 OREG0003809 type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 6 46 0 0 1 0 0 ABCA11P 79963 broad.mit.edu 37 4 419668 419668 + RNA SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:419668G>C ENST00000451020.2 - 0 1370 NR_002451.2 AAGGTAGCCTGAGAGAGGCTG 0.448000 7 22 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124811010 124811010 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:124811010C>G ENST00000423114.2 - 11 1824 c.1825G>C c.(1825-1827)Gat>Cat p.D609H SLC12A8_ENST00000430155.2_Missense_Mutation_p.D381H|SLC12A8_ENST00000469902.1_Missense_Mutation_p.D580H|SLC12A8_ENST00000393469.4_Missense_Mutation_p.D580H|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000465475.1_Intron A0AV02 S12A8_HUMAN solute carrier family 12, member 8 580 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 CTCCAGACATCTTGTTCTTGG 0.418000 9 43 0 0 1 0 0 SCP2 6342 broad.mit.edu 37 1 53493743 53493743 + Splice_Site SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:53493743G>A ENST00000488965.1 + 2 173 c.126_splice c.e2+1 p.E42_splice SCP2_ENST00000430330.2_Splice_Site_p.E39_splice|SCP2_ENST00000528311.1_Splice_Site_p.E365_splice|SCP2_ENST00000408941.3_Splice_Site_p.E42_splice|SCP2_ENST00000407246.2_Splice_Site_p.E422_splice|SCP2_ENST00000435345.2_Splice_Site_p.E42_splice|SCP2_ENST00000371509.4_Splice_Site_p.E402_splice|SCP2_ENST00000371514.3_Splice_Site_p.E446_splice P22307 NLTP_HUMAN sterol carrier protein 2 446 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 AACTTGAAGAGGTAAGATTTA 0.388000 3 18 0 0 1 0 0 KLRG1 10219 broad.mit.edu 37 12 9142258 9142258 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:9142258G>C ENST00000266551.4 + 1 42 c.27G>C c.(25-27)atG>atC p.M9I KLRG1_ENST00000538029.1_Intron|KLRG1_ENST00000356986.3_Missense_Mutation_p.M9I|RP11-259O18.4_ENST00000545706.1_RNA NM_005810.3 NP_005801.3 Q96E93 KLRG1_HUMAN killer cell lectin-like receptor subfamily G, member 1 9 cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response integral to membrane receptor activity|sugar binding breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 8 TTTATTCCATGTTAGAGTTGC 0.413000 7 62 0 0 1 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20055047 20055047 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:20055047C>T ENST00000276390.2 + 1 170 c.130C>T c.(130-132)Cgc>Tgc p.R44C NM_001693.3 NP_001684.2 P21281 VATB2_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 44 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) CTCCCAGCCTCGCCTCAGTGA 0.652000 3 10 0 0 1 0 0 ENOPH1 58478 broad.mit.edu 37 4 83378153 83378153 + Nonsense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:83378153C>G ENST00000273920.3 + 5 876 c.608C>G c.(607-609)tCa>tGa p.S203* ENOPH1_ENST00000509635.1_Nonsense_Mutation_p.S115* NM_021204.3 NP_067027.1 Q9UHY7 ENOPH_HUMAN enolase-phosphatase 1 203 L-methionine salvage from methylthioadenosine cytoplasm|nucleus 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1) 13 ATTGGGTGCTCAACCAACAAC 0.393000 9 58 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 9 45 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107430085 107430085 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:107430085C>G ENST00000340010.5 - 6 803 c.619G>C c.(619-621)Gag>Cag p.E207Q SLC26A3_ENST00000422236.2_Missense_Mutation_p.E172Q NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 207 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 ATGAGGGACTCAGACAGGTAT 0.443000 4 16 0 0 1 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88204527 88204527 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr9:88204527C>T ENST00000357081.3 - 20 2782 c.2638G>A c.(2638-2640)Gaa>Aaa p.E880K AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E840K|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E892K Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 880 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 GACAGGGTTTCACATAACACA 0.353000 8 58 0 0 1 0 0 CCDC41 51134 broad.mit.edu 37 12 94769780 94769780 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:94769780G>A ENST00000397809.5 - 8 1364 c.815C>T c.(814-816)tCa>tTa p.S272L CCDC41_ENST00000397807.2_Missense_Mutation_p.S239L|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Missense_Mutation_p.S272L|CCDC41_ENST00000339839.5_Missense_Mutation_p.S272L NM_016122.2 NP_057206.2 Q9Y592 CCD41_HUMAN coiled-coil domain containing 41 264 breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 TAAATTAGCTGATTGTTTTTC 0.259000 4 42 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26239822 26239822 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr22:26239822C>G ENST00000335473.7 + 18 3579 c.3329C>G c.(3328-3330)tCg>tGg p.S1110W MYO18B_ENST00000536101.1_Missense_Mutation_p.S1110W|MYO18B_ENST00000407587.2_Missense_Mutation_p.S1111W NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1110 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCCAACCTCTCGGCCCTGGAT 0.607000 10 47 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277857 152277857 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:152277857C>T ENST00000368799.1 - 3 9540 c.9505G>A c.(9505-9507)Gaa>Aaa p.E3169K FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3169 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) CCTGATTGTTCCTCATTACGT 0.552000 Ichthyosis 5 411 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145074987 145074987 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:145074987C>T ENST00000369345.4 - 2 521 c.307G>A c.(307-309)Ggc>Agc p.G103S PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCTTCCAGGCCAAAGCAAAGG 0.453000 T PDGFRB MPD 6 38 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39726736 39726736 + Silent SNP C C T rs148846158 byFrequency TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:39726736C>T ENST00000395670.3 - 19 3080 c.2661G>A c.(2659-2661)gcG>gcA p.A887A KIF21A_ENST00000361418.5_Silent_p.A887A|KIF21A_ENST00000541463.2_Silent_p.A851A|KIF21A_ENST00000544797.2_Silent_p.A874A|KIF21A_ENST00000361961.3_Silent_p.A874A Q7Z4S6 KI21A_HUMAN kinesin family member 21A 887 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CCTGGACTCTCGCCACAGGAA 0.488000 8 35 0 0 1 0 0 C1orf56 54964 broad.mit.edu 37 1 151021313 151021313 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:151021313C>T ENST00000368926.5 + 1 1098 c.990C>T c.(988-990)ttC>ttT p.F330F C1orf56_ENST00000465135.1_3'UTR NM_017860.3 NP_060330.2 Q9BUN1 CA056_HUMAN chromosome 1 open reading frame 56 330 extracellular region endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTTCAGTGTTCACAGAGATGC 0.532000 OREG0013793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 67 0 0 1 0 0 LRRC73 221424 broad.mit.edu 37 6 43475308 43475308 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:43475308C>G ENST00000372441.1 - 5 1666 c.766G>C c.(766-768)Gag>Cag p.E256Q NM_001012974.1 NP_001012992.1 Q5JTD7 CF154_HUMAN leucine rich repeat containing 73 256 Poly-Glu. TCCTCTCCCTCAGAGAGGAGG 0.607000 5 53 0 0 1 0 0 MEX3B 84206 broad.mit.edu 37 15 82336770 82336770 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:82336770G>C ENST00000329713.4 - 2 876 c.441C>G c.(439-441)ctC>ctG p.L147L MEX3B_ENST00000558133.1_3'UTR NM_032246.3 NP_115622.2 Q6ZN04 MEX3B_HUMAN mex-3 RNA binding family member B 147 protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1) 19 CCGCGCCGTTGAGTGCCGTGT 0.672000 12 44 0 0 1 0 0 RAC2 5880 broad.mit.edu 37 22 37637671 37637671 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr22:37637671G>C ENST00000249071.6 - 2 184 c.63C>G c.(61-63)atC>atG p.I21M RAC2_ENST00000405484.1_Missense_Mutation_p.I14M|RAC2_ENST00000401529.3_Missense_Mutation_p.I21M|RAC2_ENST00000406508.1_De_novo_Start_InFrame NM_002872.3 NP_002863.1 P15153 RAC2_HUMAN ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 21 axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding p.I21M(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 12 TGGTGTAGCTGATGAGAAGGC 0.617000 15 73 0 0 1 0 0 MSC 9242 broad.mit.edu 37 8 72754970 72754970 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:72754970C>T ENST00000325509.4 - 2 836 c.547G>A c.(547-549)Gtg>Atg p.V183M RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin 183 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) CCCGAGACCACGAATGGCCAT 0.478000 49 337 0 0 1 0 0 MDM2 4193 broad.mit.edu 37 12 69229700 69229700 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:69229700C>A ENST00000462284.1 + 9 1078 c.776C>A c.(775-777)tCt>tAt p.S259Y MDM2_ENST00000348801.2_Missense_Mutation_p.S53Y|MDM2_ENST00000299252.4_Missense_Mutation_p.S83Y|MDM2_ENST00000258149.5_Missense_Mutation_p.S198Y|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Missense_Mutation_p.S58Y|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.S58Y|MDM2_ENST00000356290.4_Missense_Mutation_p.S83Y|MDM2_ENST00000350057.5_Missense_Mutation_p.S228Y|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S204Y|MDM2_ENST00000540827.1_Missense_Mutation_p.S58Y NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 253 ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP (By similarity).|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GAAGTTGAATCTCTCGACTCA 0.358000 A """sarcoma, glioma, colorectal, other""" 25 37 2.79863e-10 3.06546e-10 1 1 0 OXTR 5021 broad.mit.edu 37 3 8794849 8794849 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:8794849G>C ENST00000316793.3 - 4 1608 c.984C>G c.(982-984)atC>atG p.I328M CAV3_ENST00000472766.1_Intron NM_000916.3 NP_000907.2 P30559 OXYR_HUMAN oxytocin receptor 328 female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) ACAGCATGTAGATCCAGGGGT 0.612000 12 46 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50776913 50776913 + Splice_Site SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr20:50776913C>G ENST00000216923.4 - 5 861 c.511_splice c.e5-1 p.G171_splice ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371518.2_Splice_Site_p.G171_splice|ZFP64_ENST00000371515.4_Splice_Site_p.G169_splice|ZFP64_ENST00000361387.2_Splice_Site_p.G171_splice|ZFP64_ENST00000346617.4_Splice_Site_p.G117_splice NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GGGTTTGTCTCCTTCAAACAC 0.458000 4 128 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50758384 50758384 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:50758384C>T ENST00000404971.1 - 12 3787 c.2448G>A c.(2446-2448)gtG>gtA p.V816V NRXN1_ENST00000406859.3_Silent_p.V776V|NRXN1_ENST00000401669.2_Silent_p.V776V|NRXN1_ENST00000405472.3_Silent_p.V768V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.V776V|NRXN1_ENST00000402717.3_Silent_p.V768V NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 776 Laminin G-like 4. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCGTCAGTTTCACACGTCCTG 0.483000 4 34 0 0 1 0 0 PAFAH1B1 5048 broad.mit.edu 37 17 2585085 2585085 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:2585085G>C ENST00000397195.5 + 11 1673 c.1222G>C c.(1222-1224)Gag>Cag p.E408Q PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.E203Q NM_000430.3 NP_000421.1 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 408 Interaction with DCX.|Interaction with NDEL1 (By similarity).|Interaction with dynein and dynactin. acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 AAAAGTGTGGGAGTGCCGTTG 0.448000 7 20 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104198 53104198 + Nonsense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:53104198C>A ENST00000408890.4 + 1 850 c.834C>A c.(832-834)tgC>tgA p.C278* NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 278 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GCGGCAGCTGCAGTAGGGTCT 0.622000 10 71 1.58986e-06 1.69631e-06 1 1 0 NR2C2AP 126382 broad.mit.edu 37 19 19313613 19313613 + Nonsense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:19313613C>T ENST00000331552.6 - 2 479 c.116G>A c.(115-117)tGg>tAg p.W39* NR2C2AP_ENST00000544883.1_Nonsense_Mutation_p.W39*|NR2C2AP_ENST00000590907.2_Intron|NR2C2AP_ENST00000420605.2_Nonsense_Mutation_p.W39*|NR2C2AP_ENST00000538165.2_Nonsense_Mutation_p.W39* NM_176880.4 NP_795361.1 Q86WQ0 NR2CA_HUMAN nuclear receptor 2C2-associated protein 39 cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm breast(1)|cervix(1)|kidney(2)|ovary(1) 5 Epithelial(12;0.00235) GTCTGAGTTCCAACATGTCTC 0.542000 9 49 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45028269 45028269 + RNA SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:45028269G>A ENST00000454753.1 - 0 500 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) TGCCTGGGCTGACTGCAATGG 0.527000 10 64 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137136 40137136 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:40137136G>C ENST00000278198.2 - 2 2670 c.707C>G c.(706-708)cCt>cGt p.P236R LRRC4C_ENST00000527150.1_Missense_Mutation_p.P236R|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P236R|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P236R Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 236 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GAAAGAGCCAGGCCTGATGGC 0.458000 33 63 0 0 1 0 0 DEFB118 117285 broad.mit.edu 37 20 29960737 29960737 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr20:29960737G>C ENST00000253381.2 + 2 169 c.136G>C c.(136-138)Gat>Cat p.D46H NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 46 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AGCAGTGAAAGATACATGCAA 0.453000 10 77 0 0 1 0 0 CPNE8 144402 broad.mit.edu 37 12 39079378 39079378 + Silent SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:39079378C>A ENST00000331366.5 - 16 1281 c.1185G>T c.(1183-1185)ggG>ggT p.G395G CPNE8_ENST00000360449.3_Silent_p.G383G|CPNE8_ENST00000538596.2_Silent_p.G64G NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 395 VWFA. NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) CCTCCATGACCCCCTCAATGC 0.388000 13 73 5.01169e-05 5.20121e-05 1 1 0 USP34 9736 broad.mit.edu 37 2 61546322 61546322 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:61546322G>C ENST00000398571.2 - 22 3230 c.3154C>G c.(3154-3156)Ctt>Gtt p.L1052V NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1052 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TCCAGGAAAAGATGTTTGTAG 0.323000 7 84 0 0 1 0 0 ZNF211 10520 broad.mit.edu 37 19 58152590 58152590 + Nonsense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:58152590C>T ENST00000544273.1 + 5 1099 c.772C>T c.(772-774)Cag>Tag p.Q258* ZNF211_ENST00000254182.7_Nonsense_Mutation_p.Q237*|ZNF211_ENST00000299871.5_Nonsense_Mutation_p.Q311*|ZNF211_ENST00000391703.3_Nonsense_Mutation_p.Q185*|ZNF211_ENST00000347302.3_Nonsense_Mutation_p.Q246*|ZNF211_ENST00000420680.1_Nonsense_Mutation_p.Q250*|ZNF211_ENST00000240731.4_Nonsense_Mutation_p.Q259*|ZNF211_ENST00000541801.1_Nonsense_Mutation_p.Q237* Q13398 ZN211_HUMAN zinc finger protein 211 246 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACACTTGTTCAGGACCAGAG 0.433000 20 97 0 0 1 0 0 ARNT2 9915 broad.mit.edu 37 15 80843596 80843596 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:80843596G>A ENST00000533983.1 + 10 1240 c.901G>A c.(901-903)Gtg>Atg p.V301M ARNT2_ENST00000527771.1_Missense_Mutation_p.V301M|ARNT2_ENST00000303329.4_Missense_Mutation_p.V312M Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 312 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) ATATTGCCTCGTGGCAATTGG 0.438000 22 51 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26513716 26513716 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:26513716G>A ENST00000531191.1 + 14 1599 c.592G>A c.(592-594)Gat>Aat p.D198N CNKSR1_ENST00000374253.5_Missense_Mutation_p.D463N|CNKSR1_ENST00000361530.6_Missense_Mutation_p.D456N Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 463 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) AAGTGGACATGATCAGAAGAA 0.527000 9 26 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11765324 11765324 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:11765324C>A ENST00000381486.2 + 24 4492 c.4192C>A c.(4192-4194)Ccc>Acc p.P1398T GREB1_ENST00000234142.5_Missense_Mutation_p.P1398T|GREB1_ENST00000396123.1_Missense_Mutation_p.P396T NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1398 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GCTTAGCGACCCCTGGCCAGA 0.448000 95 188 1.19196e-48 1.35053e-48 1 1 0 CD68 968 broad.mit.edu 37 17 7484303 7484303 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:7484303C>G ENST00000250092.6 + 5 1061 c.850C>G c.(850-852)Ctt>Gtt p.L284V CD68_ENST00000380498.6_Missense_Mutation_p.L257V NM_001251.2 NP_001242.2 P34810 CD68_HUMAN CD68 molecule 284 endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane endometrium(1)|lung(1)|skin(1) 3 GAGCATCATTCTTTCACCAGC 0.572000 13 84 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90572749 90572749 + RNA SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:90572749A>G ENST00000551025.1 + 0 2758 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TTCAAACAGTAGAACTCACAA 0.368000 19 65 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551779 248551779 + Nonsense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:248551779C>A ENST00000355728.2 + 1 870 c.870C>A c.(868-870)taC>taA p.Y290* NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) CTCTCATCTACAGTCTGAGGA 0.443000 16 51 5.01169e-05 5.20121e-05 1 1 0 EPN1 29924 broad.mit.edu 37 19 56200300 56200300 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:56200300C>G ENST00000411543.2 + 5 1423 c.876C>G c.(874-876)agC>agG p.S292R EPN1_ENST00000270460.6_Missense_Mutation_p.S181R|EPN1_ENST00000085079.7_Missense_Mutation_p.S181R|EPN1_ENST00000591743.1_3'UTR NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 181 8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CGCAGAGCAGCGGGGAGGAGG 0.711000 6 6 0 0 1 0 0 CPEB3 22849 broad.mit.edu 37 10 93952390 93952390 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:93952390G>A ENST00000412050.4 - 3 1097 c.1009C>T c.(1009-1011)Cgg>Tgg p.R337W CPEB3_ENST00000265997.4_Missense_Mutation_p.R337W NM_001178137.1 NP_001171608.1 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding protein 3 337 nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) GGCCTACTCCGGTCCTAAGAA 0.358000 5 28 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62577838 62577838 + Missense_Mutation SNP T T C rs145678786 byFrequency TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:62577838T>C ENST00000389204.4 - 6 735 c.650A>G c.(649-651)aAg>aGg p.K217R ASPH_ENST00000522835.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.K202R|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000541428.1_Intron NM_020164.4 NP_064549.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 0 Glu-rich. muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) GGTATTTCCCTTTGTTAAGTG 0.378000 44 103 0 0 1 0 0 ZGLP1 100125288 broad.mit.edu 37 19 10418965 10418965 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:10418965C>T ENST00000403903.3 - 1 1591 c.393G>A c.(391-393)ctG>ctA p.L131L CTD-2369P2.10_ENST00000452032.2_3'UTR|ZGLP1_ENST00000403352.1_Silent_p.L47L|FDX1L_ENST00000541276.1_3'UTR NM_001103167.1 NP_001096637.1 P0C6A0 ZGLP1_HUMAN zinc finger, GATA-like protein 1 131 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1) 6 GGCAGGGGTTCAGCTGTTTCC 0.637000 9 21 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194151922 194151922 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:194151922C>G ENST00000439040.1 - 23 3246 c.2455G>C c.(2455-2457)Gag>Cag p.E819Q ATP13A3_ENST00000256031.4_Missense_Mutation_p.E819Q Q9H7F0 AT133_HUMAN ATPase type 13A3 819 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TGAAGATCCTCTAAGCTATCA 0.338000 9 114 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6843175 6843175 + Silent SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:6843175C>G ENST00000304076.2 + 21 2038 c.1944C>G c.(1942-1944)ctC>ctG p.L648L VAV1_ENST00000539284.1_Silent_p.L573L|VAV1_ENST00000596764.1_Silent_p.L638L|VAV1_ENST00000599806.1_Silent_p.L615L|VAV1_ENST00000602142.1_Silent_p.L670L NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 670 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CTGTTCATCTCTGGTGAGTAG 0.488000 33 91 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121767715 121767715 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:121767715G>C ENST00000261367.7 + 8 2803 c.1375G>C c.(1375-1377)Gca>Cca p.A459P SNCAIP_ENST00000261368.8_Missense_Mutation_p.A412P|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.A459P|SNCAIP_ENST00000379536.2_Missense_Mutation_p.A352P|SNCAIP_ENST00000379538.3_Missense_Mutation_p.A46P|SNCAIP_ENST00000503116.2_Missense_Mutation_p.A459P|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000504884.2_3'UTR Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 412 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AGAAGCCATTGCAGAACTGAG 0.418000 3 34 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52702585 52702585 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:52702585C>G ENST00000356770.4 - 3 315 c.313G>C c.(313-315)Gag>Cag p.E105Q PBRM1_ENST00000296302.7_Missense_Mutation_p.E105Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.E105Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.E105Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.E105Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.E105Q|PBRM1_ENST00000410007.1_Missense_Mutation_p.E105Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.E105Q Q86U86 PB1_HUMAN polybromo 1 105 Bromo 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCATCATACTCTTCCATTTTT 0.299000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 8 35 0 0 1 0 0 FAM83D 81610 broad.mit.edu 37 20 37580315 37580315 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr20:37580315C>A ENST00000217429.4 + 4 1041 c.1000C>A c.(1000-1002)Cac>Aac p.H334N NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 304 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) ACTCCTGTCTCACTTCCAGAG 0.532000 4 111 0.00909568 0.00920751 1 1 0 ZNF385D 79750 broad.mit.edu 37 3 21792472 21792472 + Translation_Start_Site SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:21792472G>A ENST00000281523.2 - 0 455 ZNF385D_ENST00000494118.1_Intron NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 AGGCTGGCACGTAGAGCAGAG 0.557000 5 25 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66188671 66188671 + Silent SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:66188671A>G ENST00000360689.5 + 8 2741 c.1014A>G c.(1012-1014)ccA>ccG p.P338P FUT8_ENST00000557164.1_Silent_p.P175P|FUT8_ENST00000394586.2_Silent_p.P338P|FUT8_ENST00000358307.2_Silent_p.P209P|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394585.1_Silent_p.P338P NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 338 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TGATCCGCCCACAGCCTTGGC 0.468000 17 75 0 0 1 0 0 ZNF501 115560 broad.mit.edu 37 3 44776052 44776052 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:44776052G>A ENST00000396048.2 + 3 576 c.139G>A c.(139-141)Gag>Aag p.E47K NM_001258280.1|NM_145044.3 NP_001245209.1|NP_659481.2 Q96CX3 ZN501_HUMAN zinc finger protein 501 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579) TCACAGAGGAGAGAAGCCCTA 0.413000 18 32 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6864840 6864840 + Missense_Mutation SNP T T G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:6864840T>G ENST00000307659.5 + 7 3186 c.2731T>G c.(2731-2733)Tat>Gat p.Y911D KIAA0232_ENST00000425103.1_Missense_Mutation_p.Y911D NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 911 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 TGGTGGTGATTATACAACACC 0.448000 14 41 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36263163 36263163 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:36263163G>A ENST00000394571.2 + 5 737 c.737G>A c.(736-738)cGa>cAa p.R246Q PNPLA1_ENST00000312917.5_Missense_Mutation_p.R160Q|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R151Q NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 246 lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 TACTACTACCGAGGGTACGAG 0.582000 9 82 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33875642 33875642 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr20:33875642C>T ENST00000374408.3 - 4 1036 c.940G>A c.(940-942)Gag>Aag p.E314K NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 314 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) AGCGGGTCCTCACCGCCACAG 0.667000 5 10 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201515727 201515727 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:201515727G>C ENST00000374700.2 + 26 3119 c.2878G>C c.(2878-2880)Gat>Cat p.D960H AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 960 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CAAGGAAATTGATCAAACACC 0.433000 11 68 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2613674 2613674 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:2613674G>A ENST00000399634.1 + 8 1186 c.1186G>A c.(1186-1188)Gtt>Att p.V396I CACNA1C_ENST00000399641.1_Missense_Mutation_p.V396I|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V396I|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V396I|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V396I|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000402845.3_Intron NM_001167625.1 NP_001161097.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 396 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ATCCTTTTTCGTTCTAAATCT 0.488000 14 72 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43819433 43819433 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:43819433G>A ENST00000382031.1 + 5 6507 c.6476G>A c.(6475-6477)aGg>aAg p.R2159K MAP1A_ENST00000300231.5_Missense_Mutation_p.R1921K|MAP1A_ENST00000399453.1_Missense_Mutation_p.R1921K P78559 MAP1A_HUMAN microtubule-associated protein 1A 1921 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GAAGAAGGTAGGGCTGAGGCT 0.602000 14 53 0 0 1 0 0 PRRG2 5639 broad.mit.edu 37 19 50093194 50093194 + Missense_Mutation SNP C C G rs139807476 TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:50093194C>G ENST00000246794.5 + 6 644 c.475C>G c.(475-477)Ctg>Gtg p.L159V PRRG2_ENST00000596700.1_3'UTR NM_000951.2 NP_000942.1 O14669 TMG2_HUMAN proline rich Gla (G-carboxyglutamic acid) 2 159 extracellular region|integral to plasma membrane calcium ion binding lung(1)|skin(1)|soft_tissue(1) 3 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121) TTTGAACCCTCTGGGcccacc 0.642000 9 34 0 0 1 0 0 C20orf27 54976 broad.mit.edu 37 20 3736145 3736145 + Missense_Mutation SNP T T C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr20:3736145T>C ENST00000379772.3 - 4 1082 c.272A>G c.(271-273)aAg>aGg p.K91R C20orf27_ENST00000217195.8_Missense_Mutation_p.K116R NM_001258429.1 NP_001245358.1 Q9GZN8 CT027_HUMAN chromosome 20 open reading frame 27 91 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 7 GCTGAGGAGCTTGAGGTGCAG 0.612000 6 23 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516530 195516530 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:195516530G>C ENST00000463781.3 - 2 2380 c.1921C>G c.(1921-1923)Caa>Gaa p.Q641E MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q641E NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 646 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGCGGGGCTTGAGTGTGACCC 0.512000 24 222 0 0 1 0 0 EIF2B4 8890 broad.mit.edu 37 2 27587687 27587687 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:27587687C>A ENST00000493344.2 - 11 1645 c.1333G>T c.(1333-1335)Gcc>Tcc p.A445S EIF2B4_ENST00000445933.2_Missense_Mutation_p.A423S|EIF2B4_ENST00000451130.2_Missense_Mutation_p.A444S|EIF2B4_ENST00000347454.4_Missense_Mutation_p.A424S|AC074117.10_ENST00000412749.1_RNA Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 424 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCAGGGCTAACTGTGCT 0.512000 10 50 3.07112e-06 3.26265e-06 1 1 0 ZNF737 100129842 broad.mit.edu 37 19 20727911 20727911 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:20727911C>G ENST00000427401.4 - 4 1192 c.1098G>C c.(1096-1098)gaG>gaC p.E366D NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 366 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TGTAGGGTTTCTCTCCACTAT 0.403000 8 54 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111766608 111766608 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:111766608C>G ENST00000452346.2 + 7 756 c.753C>G c.(751-753)ttC>ttG p.F251L TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F125L Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 251 CUB 1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CTCAGTACTTCTATGCAGAGC 0.433000 8 36 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103447296 103447296 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:103447296C>T ENST00000361246.2 - 8 1242 c.954G>A c.(952-954)caG>caA p.Q318Q NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 318 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) AGATCAGTCTCTGGATGAGGT 0.488000 21 63 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347739 140347739 + Missense_Mutation SNP A A G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:140347739A>G ENST00000289269.5 + 1 1920 c.1388A>G c.(1387-1389)aAt>aGt p.N463S PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 463 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGACATCAATGACAATCCA 0.517000 25 144 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62298456 62298456 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:62298456C>T ENST00000378024.4 - 5 3707 c.3433G>A c.(3433-3435)Gaa>Aaa p.E1145K AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1145 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ACATCCACTTCTGGGCCCTCG 0.552000 31 176 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39055709 39055709 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:39055709G>C ENST00000355481.4 + 90 12851 c.12720G>C c.(12718-12720)caG>caC p.Q4240H RYR1_ENST00000360985.3_Missense_Mutation_p.Q4240H|RYR1_ENST00000359596.3_Missense_Mutation_p.Q4245H NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4245 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCGAGATGCAGATCGCCGCGC 0.687000 2 2 0 0 1 0 0 MLLT10 8028 broad.mit.edu 37 10 22015240 22015240 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:22015240C>T ENST00000377072.3 + 16 2342 c.1994C>T c.(1993-1995)tCa>tTa p.S665L MLLT10_ENST00000307729.7_Missense_Mutation_p.S649L|MLLT10_ENST00000446906.2_Missense_Mutation_p.S649L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S649L NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 665 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 AGATCAAATTCATCAATGGCA 0.328000 T """MLL, PICALM, CDK6""" AL 20 198 0 0 1 0 0 ASB4 51666 broad.mit.edu 37 7 95157581 95157581 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:95157581G>A ENST00000325885.5 + 3 1015 c.944G>A c.(943-945)gGg>gAg p.G315E ASB4_ENST00000428113.1_Missense_Mutation_p.G315E NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 315 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) TTGAACCATGGGGCTGCCCGA 0.562000 OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 55 0 0 1 0 0 IREB2 3658 broad.mit.edu 37 15 78781045 78781045 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:78781045G>A ENST00000258886.8 + 16 2157 c.2008G>A c.(2008-2010)Gaa>Aaa p.E670K NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 670 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TAGTCGAGAAGAAGTTCATCG 0.328000 16 49 0 0 1 0 0 C14orf79 122616 broad.mit.edu 37 14 105453189 105453189 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:105453189G>C ENST00000547315.1 + 1 1060 c.421G>C c.(421-423)Gag>Cag p.E141Q C14orf79_ENST00000549584.1_3'UTR NM_174891.3 NP_777551.2 Q96F83 CN079_HUMAN chromosome 14 open reading frame 79 141 breast(1)|endometrium(1)|lung(1) 3 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181) CCCACCTTCTGAGGTATTTCT 0.587000 11 66 0 0 1 0 0 UHRF1 29128 broad.mit.edu 37 19 4930834 4930834 + RNA SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:4930834C>G ENST00000592666.1 + 0 1091 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) CCCTGCAGCTCCACGTCCAGG 0.647000 18 95 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30024699 30024699 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:30024699G>A ENST00000346128.6 - 15 2429 c.1955C>T c.(1954-1956)cCa>cTa p.P652L TJP1_ENST00000545208.2_Missense_Mutation_p.P652L|TJP1_ENST00000356107.6_Missense_Mutation_p.P652L|TJP1_ENST00000400011.2_Missense_Mutation_p.P656L NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 652 Guanylate kinase-like. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) ATCAGCTATTGGTCCAAAAAT 0.373000 27 94 0 0 1 0 0 AP5B1 91056 broad.mit.edu 37 11 65545761 65545761 + Missense_Mutation SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:65545761G>T ENST00000532090.2 - 2 2413 c.2203C>A c.(2203-2205)Ccc>Acc p.P735T NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 678 protein binding lung(1) 1 AGCCGTGCGGGGGCCGGGCAT 0.647000 7 51 1.12685e-05 1.18692e-05 1 1 0 CENPE 1062 broad.mit.edu 37 4 104079981 104079981 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:104079981C>T ENST00000265148.3 - 23 2753 c.2664G>A c.(2662-2664)gaG>gaA p.E888E CENPE_ENST00000380026.3_Silent_p.E863E NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 888 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) GCTGTTCCATCTCATTTAGTC 0.363000 10 31 0 0 1 0 0 ABHD14B 84836 broad.mit.edu 37 3 52003451 52003451 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:52003451C>T ENST00000315877.10 - 6 1311 c.618G>A c.(616-618)ggG>ggA p.G206G ABHD14B_ENST00000395008.2_Silent_p.G208G|ABHD14B_ENST00000461108.1_3'UTR|RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000487005.1_5'UTR|ABHD14B_ENST00000361143.5_Silent_p.G208G|ABHD14B_ENST00000483233.1_Silent_p.G208G|ABHD14B_ENST00000525795.1_Silent_p.G208G Q96IU4 ABHEB_HUMAN abhydrolase domain containing 14B 208 cytoplasm|nucleus hydrolase activity large_intestine(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072) TTCACTGGAGCCCCTGCAGGA 0.632000 18 55 0 0 1 0 0 HNRNPU 3192 broad.mit.edu 37 1 245027113 245027113 + Missense_Mutation SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:245027113G>T ENST00000444376.2 - 1 731 c.497C>A c.(496-498)cCg>cAg p.P166Q HNRNPU_ENST00000283179.9_Missense_Mutation_p.P166Q NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 166 Gln-rich. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) CTGCGTCGCCGGCGGTTGAGG 0.711000 4 17 0.00909568 0.00920751 1 1 0 SETDB2 83852 broad.mit.edu 37 13 50065014 50065014 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr13:50065014G>A ENST00000354234.4 + 13 2880 c.1974G>A c.(1972-1974)agG>agA p.R658R SETDB2_ENST00000317257.8_Silent_p.R670R NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 670 SET. cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) CACACAACAGGAATTTTCCAT 0.323000 15 24 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148947825 148947825 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:148947825G>A ENST00000335870.2 + 3 596 c.468G>A c.(466-468)gaG>gaA p.E156E NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 156 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) AGGAATGGGAGAATCTGGAGG 0.488000 20 75 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4304782 4304782 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:4304782G>C ENST00000404826.2 + 45 6547 c.6408G>C c.(6406-6408)gcG>gcC p.A2136A SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.A2116A NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 2136 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ACGAGGACGCGCTGCCCAAGC 0.682000 6 38 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70460923 70460923 + Missense_Mutation SNP T T C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chrX:70460923T>C ENST00000373998.1 - 25 4617 c.3920A>G c.(3919-3921)tAc>tGc p.Y1307C ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.Y1319C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.Y1319C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.Y1321C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.Y1229C NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 1319 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) AGGTTGCAGGTAGAACACATC 0.572000 6 18 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 170024529 170024529 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:170024529G>C ENST00000361580.2 - 2 308 c.81C>G c.(79-81)ctC>ctG p.L27L KIFAP3_ENST00000367765.1_5'UTR|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367767.1_Intron|KIFAP3_ENST00000538366.1_5'UTR NM_014970.3 NP_055785.2 Q92845 KIFA3_HUMAN kinesin-associated protein 3 27 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGTGAACAATGAGTGCTTTTT 0.348000 7 34 0 0 1 0 0 MOB1A 55233 broad.mit.edu 37 2 74386310 74386310 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:74386310G>A ENST00000396049.3 - 5 674 c.481C>T c.(481-483)Cat>Tat p.H161Y MOB1A_ENST00000497054.1_5'UTR NM_018221.3 NP_060691.2 Q9H8S9 MOL1B_HUMAN MOB kinase activator 1A 161 hippo signaling cascade metal ion binding|protein binding TGATAAATATGGGCATAAACC 0.398000 12 62 0 0 1 0 0 MAP4K1 11184 broad.mit.edu 37 19 39090740 39090740 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:39090740C>T ENST00000591517.1 - 21 1613 c.1585G>A c.(1585-1587)Gac>Aac p.D529N MAP4K1_ENST00000589130.1_Missense_Mutation_p.D525N|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D529N|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000423454.2_Missense_Mutation_p.D191N NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 529 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCCTCCTGGTCATTCCGGTTC 0.627000 10 54 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18301781 18301781 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr22:18301781G>C ENST00000441493.2 - 26 3998 c.3646C>G c.(3646-3648)Ctg>Gtg p.L1216V NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1216 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) ACAGCTTTCAGATCCGAGGGG 0.622000 7 34 0 0 1 0 0 SCP2D1 140856 broad.mit.edu 37 20 18794486 18794486 + Silent SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr20:18794486C>G ENST00000377428.2 + 1 117 c.27C>G c.(25-27)ccC>ccG p.P9P C20orf78_ENST00000278779.4_Intron NM_178483.2 NP_848578.1 SCP2 sterol-binding domain containing 1 ACCATCAACCCAAGATCAAAG 0.517000 5 44 0 0 1 0 0 ABRA 137735 broad.mit.edu 37 8 107782176 107782176 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:107782176C>T ENST00000311955.3 - 1 297 c.243G>A c.(241-243)tcG>tcA p.S81S NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 81 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding p.S81S(1) breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GGCGGGGTGGCGACTTTGGGG 0.552000 15 88 0 0 1 0 0 FGD3 89846 broad.mit.edu 37 9 95792158 95792158 + Silent SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr9:95792158C>G ENST00000375482.3 + 15 2056 c.1560C>G c.(1558-1560)ctC>ctG p.L520L FGD3_ENST00000416701.2_Silent_p.L520L|FGD3_ENST00000538555.1_Silent_p.L123L|FGD3_ENST00000337352.6_Silent_p.L520L NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 520 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 CCTTATAGCTCGAGCCCAGAA 0.517000 5 62 0 0 1 0 0 LRCH4 4034 broad.mit.edu 37 7 100173388 100173388 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:100173388G>C ENST00000310300.6 - 17 1846 c.1794C>G c.(1792-1794)ctC>ctG p.L598L LRCH4_ENST00000497245.1_Silent_p.L146L NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 598 CH. nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCCGAGCCTTGAGGGCACTGA 0.577000 30 221 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167653184 167653184 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:167653184G>C ENST00000519204.1 + 23 4955 c.4837G>C c.(4837-4839)Gac>Cac p.D1613H TENM2_ENST00000520394.1_Missense_Mutation_p.D1495H|TENM2_ENST00000518659.1_Missense_Mutation_p.D1734H|TENM2_ENST00000403607.2_Missense_Mutation_p.D1558H|TENM2_ENST00000545108.1_Missense_Mutation_p.D1733H teneurin transmembrane protein 2 TATTACCATTGACATTGAGAA 0.552000 3 24 0 0 1 0 0 LIPI 149998 broad.mit.edu 37 21 15517023 15517023 + Nonsense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr21:15517023G>A ENST00000344577.2 - 9 1304 c.1279C>T c.(1279-1281)Cag>Tag p.Q427* LIPI_ENST00000536861.1_Nonsense_Mutation_p.Q406* NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 406 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTTGAGCTCTGGAAATATGTC 0.308000 9 80 0 0 1 0 0 EIF2B5 8893 broad.mit.edu 37 3 183861984 183861984 + Missense_Mutation SNP A A C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:183861984A>C ENST00000273783.3 + 14 2089 c.1967A>C c.(1966-1968)cAt>cCt p.H656P EIF2B5_ENST00000444495.1_Missense_Mutation_p.H656P NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 656 W2. astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TTCCTAGAGCATGAAGCTCTT 0.502000 70 200 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70952388 70952388 + Missense_Mutation SNP A A T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:70952388A>T ENST00000357250.6 - 29 2061 c.1903T>A c.(1903-1905)Tcc>Acc p.S635T COL9A1_ENST00000320755.7_Missense_Mutation_p.S392T|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.S392T NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 635 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 AGGCCTGGGGATCCCACTGGT 0.353000 7 49 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242253286 242253286 + Nonsense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:242253286C>T ENST00000442594.2 - 11 1714 c.1205G>A c.(1204-1206)tGg>tAg p.W402* PLD5_ENST00000427495.1_Nonsense_Mutation_p.W432*|PLD5_ENST00000536534.1_Nonsense_Mutation_p.W494* NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 494 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CGGTGAATACCAGTCCCTTTC 0.468000 27 198 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95535261 95535261 + Nonsense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:95535261C>A ENST00000343958.4 - 6 2963 c.2740G>T c.(2740-2742)Gag>Tag p.E914* FGD6_ENST00000549499.1_Nonsense_Mutation_p.E914*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.E914* NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 914 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.E914Q(1) breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 ATCCGGTCCTCAATCACTGGT 0.453000 6 69 0.0215528 0.0217287 1 1 0 SAPCD1 401251 broad.mit.edu 37 6 31732230 31732230 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:31732230G>A ENST00000415669.2 + 5 518 c.459G>A c.(457-459)caG>caA p.Q153Q SAPCD1-AS1_ENST00000419679.1_RNA|SAPCD1_ENST00000425424.1_Silent_p.Q123Q|MSH5_ENST00000534153.4_3'UTR|MSH5-SAPCD1_ENST00000493662.2_3'UTR NM_001039651.1 NP_001034740.1 Q5SSQ6 G7D_HUMAN suppressor APC domain containing 1 123 CAAGGCAGCAGAAAGGAGTCA 0.607000 14 46 0 0 1 0 0 C6orf10 10665 broad.mit.edu 37 6 32261774 32261774 + Nonsense_Mutation SNP T T A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:32261774T>A ENST00000375015.4 - 26 873 c.673A>T c.(673-675)Aaa>Taa p.K225* C6orf10_ENST00000375007.4_Nonsense_Mutation_p.K224*|C6orf10_ENST00000442822.2_Nonsense_Mutation_p.K217*|C6orf10_ENST00000533191.1_Nonsense_Mutation_p.K224*|C6orf10_ENST00000447241.2_Nonsense_Mutation_p.K226*|C6orf10_ENST00000527965.1_Nonsense_Mutation_p.K210* Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 226 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 GAACAAGATTTTTTTGCAAGT 0.333000 22 110 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126240524 126240524 + Silent SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:126240524C>A ENST00000394329.3 + 1 2971 c.2958C>A c.(2956-2958)gtC>gtA p.V986V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 986 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAGTTTATGTCCATGATGTAA 0.438000 13 94 9.31168e-06 9.829e-06 1 1 0 HLA-A 3105 broad.mit.edu 37 6 29910797 29910797 + Nonsense_Mutation SNP G G T rs41559912 TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr6:29910797G>T ENST00000396634.1 + 4 678 c.337G>T c.(337-339)Gag>Tag p.E113* HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E113* P30443 1A01_HUMAN major histocompatibility complex, class I, A 113 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CAACCAGAGCGAGGCCGGTGA 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 10 15 1.33834e-09 1.45947e-09 1 1 0 FERMT3 83706 broad.mit.edu 37 11 63978126 63978126 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:63978126G>A ENST00000279227.5 + 3 299 c.204G>A c.(202-204)caG>caA p.Q68Q FERMT3_ENST00000345728.5_Silent_p.Q68Q NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 68 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 GGTGGGAACAGAAGAGGCAGT 0.632000 42 152 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73498195 73498195 + Nonsense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:73498195G>C ENST00000321617.3 - 18 3546 c.2960C>G c.(2959-2961)tCa>tGa p.S987* CASKIN2_ENST00000433559.2_Nonsense_Mutation_p.S905* NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 987 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) AACAGTGTCTGATTCCGTGAG 0.677000 6 29 0 0 1 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111745538 111745538 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr9:111745538C>G ENST00000374595.4 - 6 866 c.787G>C c.(787-789)Gac>Cac p.D263H CTNNAL1_ENST00000325551.4_Missense_Mutation_p.D263H|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D263H Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 263 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) TTCATACGGTCAAATACTCCT 0.333000 14 60 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130963477 130963477 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:130963477C>T ENST00000261655.4 - 3 245 c.82G>A c.(82-84)Gaa>Aaa p.E28K RIMBP2_ENST00000535703.1_5'UTR|RIMBP2_ENST00000536002.1_5'UTR NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 28 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) AGGTCAATTTCCTGCTGCTTG 0.667000 7 44 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3702326 3702326 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:3702326C>T ENST00000382622.3 + 10 1553 c.1163C>T c.(1162-1164)tCt>tTt p.S388F PRMT8_ENST00000452611.2_Missense_Mutation_p.S379F|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 388 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) ACATCTGTATCTAATGACTAC 0.512000 4 29 0 0 1 0 0 MAP9 79884 broad.mit.edu 37 4 156276899 156276899 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:156276899C>G ENST00000311277.4 - 9 1522 c.1259G>C c.(1258-1260)aGa>aCa p.R420T AC097467.2_ENST00000417474.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.R396T|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000593387.1_RNA NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 420 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) GTTATCTGCTCTATCAGGTTC 0.353000 6 25 0 0 1 0 0 IL5RA 3568 broad.mit.edu 37 3 3139829 3139829 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:3139829G>A ENST00000446632.2 - 6 1087 c.513C>T c.(511-513)ctC>ctT p.L171L IL5RA_ENST00000256452.3_Silent_p.L171L|IL5RA_ENST00000456302.1_Silent_p.L171L|IL5RA_ENST00000383846.1_Silent_p.L171L|IL5RA_ENST00000438560.1_Silent_p.L171L|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000430514.2_Silent_p.L171L|IL5RA_ENST00000311981.8_Silent_p.L171L|IL5RA_ENST00000418488.2_Silent_p.L171L NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 171 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) ACCTATAGTAGAGAAAATACT 0.418000 13 50 0 0 1 0 0 TMEM45A 55076 broad.mit.edu 37 3 100275640 100275640 + Missense_Mutation SNP A A T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:100275640A>T ENST00000403410.1 + 5 895 c.275A>T c.(274-276)cAt>cTt p.H92L TMEM45A_ENST00000323523.4_Missense_Mutation_p.H76L|TMEM45A_ENST00000462884.1_3'UTR Q9NWC5 TM45A_HUMAN transmembrane protein 45A 76 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2) 11 GGAGGGCCCCATCTGATGTTA 0.448000 6 20 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 153994063 153994063 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:153994063C>T ENST00000496811.1 - 25 3004 c.2924G>A c.(2923-2925)aGa>aAa p.R975K DHX36_ENST00000544526.1_Missense_Mutation_p.R961K|DHX36_ENST00000308361.6_Missense_Mutation_p.R946K|DHX36_ENST00000329463.5_Missense_Mutation_p.R961K NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 975 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TGCACAGTCTCTGGATTTAGT 0.403000 10 116 0 0 1 0 0 NCAPD2 9918 broad.mit.edu 37 12 6619268 6619268 + Silent SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:6619268C>G ENST00000315579.5 + 4 1030 c.231C>G c.(229-231)ctC>ctG p.L77L NCAPD2_ENST00000545962.1_Intron NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 77 Interactions with SMC2 and SMC4. cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 ATCCTGGCCTCAAAGAAGATA 0.448000 9 68 0 0 1 0 0 CRX 1406 broad.mit.edu 37 19 48343025 48343025 + Missense_Mutation SNP T T G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:48343025T>G ENST00000221996.7 + 4 907 c.701T>G c.(700-702)cTt>cGt p.L234R CRX_ENST00000539067.1_Missense_Mutation_p.L234R|TPRX2P_ENST00000535362.1_Intron NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 234 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) GGCCCGGCTCTTAGCCCCCTC 0.652000 7 159 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40337915 40337915 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:40337915C>G ENST00000310169.2 + 2 275 c.136C>G c.(136-138)Ctt>Gtt p.L46V NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 46 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TTCTAATGCTCTTCGTCCAGT 0.418000 19 84 0 0 1 0 0 BRIP1 83990 broad.mit.edu 37 17 59926549 59926549 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:59926549C>T ENST00000259008.2 - 5 715 c.448G>A c.(448-450)Gaa>Aaa p.E150K BRIP1_ENST00000577598.1_Missense_Mutation_p.E150K NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 150 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TCATCATTTTCATCTCTGTAT 0.343000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 16 75 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:140237249G>C ENST00000307360.5 + 1 1616 c.1616G>C c.(1615-1617)gGg>gCg p.G539A PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.G539A(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687000 5 171 0 0 1 0 0 SLC3A2 6520 broad.mit.edu 37 11 62652990 62652990 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:62652990C>T ENST00000377892.1 + 11 1673 c.1449C>T c.(1447-1449)ctC>ctT p.L483L SLC3A2_ENST00000377891.2_Silent_p.L453L|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377890.2_Silent_p.L452L|SLC3A2_ENST00000535296.1_Silent_p.L421L|SLC3A2_ENST00000338663.7_Silent_p.L351L|SLC3A2_ENST00000377889.2_Silent_p.L390L P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 452 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 TTCTCCGACTCTACCAGCTGA 0.577000 12 240 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1443220 1443220 + Silent SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:1443220G>C ENST00000270349.9 - 2 220 c.93C>G c.(91-93)ctC>ctG p.L31L SLC6A3_ENST00000453492.2_Silent_p.L31L NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 31 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TGACAAGGATGAGCTCCACCT 0.642000 16 59 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64408433 64408433 + Silent SNP A A C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:64408433A>C ENST00000358025.3 + 4 392 c.162A>C c.(160-162)atA>atC p.I54I SYNE2_ENST00000341472.5_Silent_p.I54I|SYNE2_ENST00000356081.3_Silent_p.I54I|SYNE2_ENST00000344113.4_Silent_p.I54I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.I54I NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 54 Actin-binding.|CH 1. 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) CCTCAGTTATATCCGACCTAT 0.378000 9 62 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159847213 159847213 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:159847213G>A ENST00000426543.2 - 9 1284 c.829C>T c.(829-831)Cgg>Tgg p.R277W CCDC19_ENST00000368099.4_Missense_Mutation_p.R362W|CCDC19_ENST00000476696.1_5'UTR Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 362 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TTCTCCCTCCGGATTCTCTCC 0.552000 51 125 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123518199 123518199 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chrX:123518199C>G ENST00000422452.2 - 30 6645 c.6582G>C c.(6580-6582)aaG>aaC p.K2194N TENM1_ENST00000371130.3_Missense_Mutation_p.K2187N|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GACGAGCACTCTTCCCATGGC 0.443000 4 72 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177913762 177913762 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:177913762C>G ENST00000308284.6 - 15 1904 c.1815G>C c.(1813-1815)caG>caC p.Q605H RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 605 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 TTTCCGTCCTCTGGATTGCCT 0.473000 19 110 0 0 1 0 0 ACP2 53 broad.mit.edu 37 11 47261760 47261760 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:47261760G>A ENST00000256997.3 - 11 1295 c.1179C>T c.(1177-1179)ttC>ttT p.F393F ACP2_ENST00000527256.1_Silent_p.F361F|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000537863.1_Silent_p.F206F|ACP2_ENST00000533929.1_Silent_p.F365F|ACP2_ENST00000529444.1_Silent_p.F330F NM_001610.2 NP_001601.1 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal 393 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 CTATGAGGAGGAAGAGGATGG 0.597000 6 38 0 0 1 0 0 PLAU 5328 broad.mit.edu 37 10 75676154 75676154 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:75676154C>T ENST00000446342.1 + 10 1558 c.1076C>T c.(1075-1077)tCa>tTa p.S359L C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.S376L|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.S340L NM_001145031.1 NP_001138503.1 P00749 UROK_HUMAN plasminogen activator, urokinase 376 Peptidase S1. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) CAGGGAGACTCAGGGGGACCC 0.557000 6 10 0 0 1 0 0 C17orf80 55028 broad.mit.edu 37 17 71232843 71232843 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:71232843G>A ENST00000359042.2 + 3 1416 c.1222G>A c.(1222-1224)Gag>Aag p.E408K C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.E408K|C17orf80_ENST00000535032.2_Missense_Mutation_p.E408K|C17orf80_ENST00000268942.8_Missense_Mutation_p.E408K|C17orf80_ENST00000577615.1_Missense_Mutation_p.E408K|C17orf80_ENST00000255557.4_Missense_Mutation_p.E408K|FAM104A_ENST00000583178.1_5'UTR NM_017941.4 NP_060411.2 Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 408 integral to membrane kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) GGAGAGTCCCGAGGGACAGTT 0.473000 12 54 0 0 1 0 0 SIX4 51804 broad.mit.edu 37 14 61190019 61190019 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:61190019C>G ENST00000216513.4 - 1 833 c.774G>C c.(772-774)aaG>aaC p.K258N NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 258 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) GGCCGGTGATCTTGGCCAGGT 0.607000 5 27 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26514792 26514792 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:26514792G>A ENST00000531191.1 + 16 1755 c.748G>A c.(748-750)Gag>Aag p.E250K CNKSR1_ENST00000374253.5_Missense_Mutation_p.E515K|CNKSR1_ENST00000361530.6_Missense_Mutation_p.E508K Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 515 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CCCACCCCGAGAGGAAGGTAG 0.602000 7 43 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886995 123886995 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:123886995G>A ENST00000320891.4 + 1 714 c.714G>A c.(712-714)caG>caA p.Q238Q NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 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;0.0401) GAGCCTTTCAGACCTGTGCCT 0.542000 7 55 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27001327 27001327 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:27001327G>C ENST00000314616.6 + 3 419 c.136G>C c.(136-138)Gat>Cat p.D46H SUPT6H_ENST00000347486.4_Missense_Mutation_p.D46H NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 46 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GGAGAACCTAGATGATCAGGA 0.468000 7 36 0 0 1 0 0 TFRC 7037 broad.mit.edu 37 3 195799003 195799003 + Translation_Start_Site SNP T T C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:195799003T>C ENST00000535031.1 - 0 128 TFRC_ENST00000420415.1_Missense_Mutation_p.Y71C|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000360110.4_Missense_Mutation_p.Y152C|TFRC_ENST00000392396.3_Missense_Mutation_p.Y152C P02786 TFR1_HUMAN transferrin receptor cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) ACGAGGGACATATGAATTTTC 0.328000 T BCL6 NHL 11 84 0 0 1 0 0 TPH1 7166 broad.mit.edu 37 11 18045526 18045526 + Missense_Mutation SNP T T A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:18045526T>A ENST00000250018.2 - 8 1497 c.935A>T c.(934-936)tAc>tTc p.Y312F TPH1_ENST00000341556.2_Missense_Mutation_p.Y312F NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 312 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) AGTGAAAAAGTAGCACTGCAA 0.353000 8 68 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26096140 26096140 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:26096140G>A ENST00000313735.6 - 17 2130 c.1897C>T c.(1897-1899)Cgg>Tgg p.R633W NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 633 Flavodoxin-like. arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GCGCAGAACCGAGGGTACATG 0.607000 10 17 0 0 1 0 0 FAM115A 9747 broad.mit.edu 37 7 143573255 143573255 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:143573255G>A ENST00000479870.1 - 2 655 c.447C>T c.(445-447)ctC>ctT p.L149L FAM115A_ENST00000355951.2_Silent_p.L149L|FAM115A_ENST00000392900.3_Intron NM_001206938.1|NM_001206941.1|NM_014719.2 NP_001193867.1|NP_001193870.1|NP_055534.1 Q9Y4C2 F115A_HUMAN family with sequence similarity 115, member A 149 NS(1)|endometrium(1)|lung(5) 7 Melanoma(164;0.0903) GTCCTCCTATGAGCAAGCCGC 0.512000 22 33 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296674 39296674 + Silent SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:39296674G>A ENST00000345847.4 - 1 65 c.66C>T c.(64-66)cgC>cgT p.R22R NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 22 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 AGCAGCTGGGGCGGCAGCAGG 0.632000 5 95 0 0 1 0 0 MIR124-2HG 100130155 broad.mit.edu 37 8 65291894 65291894 + RNA SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:65291894C>T ENST00000521441.1 + 0 655 GAACCCATCTCTTGCCGCATA 0.517000 4 18 0 0 1 0 0 SKIL 6498 broad.mit.edu 37 3 170078459 170078459 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:170078459G>C ENST00000458537.3 + 1 1049 c.340G>C c.(340-342)Gaa>Caa p.E114Q SKIL_ENST00000426052.2_Missense_Mutation_p.E94Q|SKIL_ENST00000413427.2_Missense_Mutation_p.E114Q|SKIL_ENST00000259119.4_Missense_Mutation_p.E114Q NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 114 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GCATTCCCAAGAAAGCATGTC 0.483000 4 259 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31294357 31294357 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:31294357G>A ENST00000265071.2 + 3 782 c.517G>A c.(517-519)Gat>Aat p.D173N CDH6_ENST00000514738.1_Missense_Mutation_p.D118N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 173 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGAAATGTCTGATGTCGGTGA 0.473000 23 160 0 0 1 0 0 CDCA7L 55536 broad.mit.edu 37 7 21956485 21956485 + Missense_Mutation SNP T T G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr7:21956485T>G ENST00000406877.3 - 2 331 c.52A>C c.(52-54)Aac>Cac p.N18H CDCA7L_ENST00000373934.4_Missense_Mutation_p.N18H|CDCA7L_ENST00000356195.5_5'UTR|CDCA7L_ENST00000465490.1_5'UTR NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 18 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 CTGGGGGCGTTAAAGATGTCA 0.463000 16 135 0 0 1 0 0 ZHX1 11244 broad.mit.edu 37 8 124268174 124268174 + Nonsense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr8:124268174G>A ENST00000395571.3 - 3 630 c.13C>T c.(13-15)Cga>Tga p.R5* ZHX1_ENST00000522655.1_Nonsense_Mutation_p.R5*|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000297857.2_Nonsense_Mutation_p.R5* NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 5 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) GTTGATTTTCGCCTGCTTGCC 0.423000 17 140 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29221896 29221896 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:29221896G>C ENST00000321990.4 + 23 5878 c.5500G>C c.(5500-5502)Gag>Cag p.E1834Q NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1834 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) CATTCCAAAAGAGACTGTGAA 0.284000 9 43 0 0 1 0 0 ZNF432 9668 broad.mit.edu 37 19 52537040 52537040 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:52537040C>G ENST00000594154.1 - 5 2104 c.1892G>C c.(1891-1893)aGa>aCa p.R631T ZNF432_ENST00000221315.5_Missense_Mutation_p.R631T O94892 ZN432_HUMAN zinc finger protein 432 631 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) GAAGGCTTTTCTACATTCACT 0.413000 26 104 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198274541 198274541 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:198274541G>C ENST00000335508.5 - 7 948 c.857C>G c.(856-858)tCc>tGc p.S286C NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 286 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) ACGAGCACTGGAAGTTGCGCC 0.517000 Mis myelodysplastic syndrome 43 261 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33532820 33532820 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:33532820C>T ENST00000228567.3 - 6 1743 c.1447G>A c.(1447-1449)Gaa>Aaa p.E483K SYT10_ENST00000535526.1_Missense_Mutation_p.E302K NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 483 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GCCAGCATTTCATTCCAGTGG 0.463000 10 78 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5768242 5768242 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:5768242C>A ENST00000381624.3 + 18 1684 c.1623C>A c.(1621-1623)ttC>ttA p.F541L CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Missense_Mutation_p.F199L NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 541 integral to membrane ATTACAGCTTCATCATCGAGA 0.498000 17 87 2.35188e-11 2.58759e-11 1 1 0 TNIP3 79931 broad.mit.edu 37 4 122079850 122079850 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr4:122079850C>T ENST00000454328.1 - 5 432 c.205G>A c.(205-207)Gaa>Aaa p.E69K TNIP3_ENST00000507879.1_Missense_Mutation_p.E139K|TNIP3_ENST00000057513.3_Missense_Mutation_p.E69K|TNIP3_ENST00000509841.1_Missense_Mutation_p.E146K Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 69 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 ACCTTTCTTTCATATAACTCT 0.363000 12 47 0 0 1 0 0 DHRS12 79758 broad.mit.edu 37 13 52343425 52343425 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr13:52343425C>T ENST00000218981.1 - 8 675 c.564G>A c.(562-564)gtG>gtA p.V188V DHRS12_ENST00000444610.2_Silent_p.V237V NM_024705.2 NP_078981.1 A0PJE2 DHR12_HUMAN dehydrogenase/reductase (SDR family) member 12 237 binding|oxidoreductase activity cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 7 Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.81e-08) TCGCCTGCCTCACACCTGGGA 0.572000 4 6 0 0 1 0 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121116732 121116732 + RNA SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:121116732C>T ENST00000437515.1 - 0 329 CATCAAAGCCCAGAATGAGTA 0.428000 4 36 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197423875 197423875 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:197423875G>C ENST00000273582.5 - 9 1717 c.1172C>G c.(1171-1173)tCt>tGt p.S391C KIAA0226_ENST00000296343.5_Missense_Mutation_p.S436C|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S436C NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 436 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) GCTTTGACCAGAGTAGGGCAA 0.463000 7 78 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15937124 15937124 + Silent SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:15937124C>G ENST00000504595.1 + 4 1786 c.1305C>G c.(1303-1305)ctC>ctG p.L435L FBXL7_ENST00000510662.1_Silent_p.L388L|FBXL7_ENST00000329673.7_Silent_p.L423L NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 435 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GGCTCAGCCTCAAGTCCTGCG 0.597000 5 53 0 0 1 0 0 IFIH1 64135 broad.mit.edu 37 2 163134157 163134157 + Missense_Mutation SNP C C G rs118172671 by1000genomes TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:163134157C>G ENST00000263642.2 - 10 2207 c.1812G>C c.(1810-1812)ttG>ttC p.L604F NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 604 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 TGTACTTCCTCAAATGTTCTG 0.323000 12 74 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104046477 104046477 + Silent SNP C C T rs73187902 byFrequency TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:104046477C>T ENST00000388887.2 + 12 1605 c.1401C>T c.(1399-1401)agC>agT p.S467S NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 467 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TCTTCAACAGCGATAAGGTAA 0.408000 15 72 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39798699 39798699 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:39798699G>A ENST00000564288.1 + 37 7216 c.6439G>A c.(6439-6441)Gac>Aac p.D2147N MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.D2184N|MACF1_ENST00000289893.4_Missense_Mutation_p.D587N|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.D2152N Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2152 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTTGGTGGTTGACAAAGATGT 0.463000 4 34 0 0 1 0 0 TM9SF3 56889 broad.mit.edu 37 10 98287224 98287224 + Nonsense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:98287224G>C ENST00000371142.4 - 13 1787 c.1571C>G c.(1570-1572)tCa>tGa p.S524* NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 524 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) GATTGCAGTTGATGCAGCAGA 0.333000 5 35 0 0 1 0 0 SUCLA2 8803 broad.mit.edu 37 13 48523152 48523152 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr13:48523152C>T ENST00000378654.3 - 10 1296 c.1240G>A c.(1240-1242)Gat>Aat p.D414N SUCLA2_ENST00000543413.1_Missense_Mutation_p.D356N|SUCLA2_ENST00000544100.1_Missense_Mutation_p.D280N|SUCLA2_ENST00000534875.1_Missense_Mutation_p.D356N NM_003850.2 NP_003841.1 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit 414 succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4) 15 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) TTAGCATCATCGACTCGTGTA 0.338000 35 65 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12186572 12186572 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr19:12186572C>A ENST00000439326.3 + 4 812 c.637C>A c.(637-639)Ctt>Att p.L213I ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 CAGCATATATCTTATACATGA 0.358000 13 25 0.00185496 0.00190114 1 1 0 MAL 4118 broad.mit.edu 37 2 95715329 95715329 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr2:95715329G>A ENST00000309988.4 + 3 374 c.265G>A c.(265-267)Gca>Aca p.A89T MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Missense_Mutation_p.A33T|MAL_ENST00000353004.3_Intron NM_002371.3 NP_002362.1 P21145 MAL_HUMAN mal, T-cell differentiation protein 89 MARVEL. apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2) 10 STAD - Stomach adenocarcinoma(1183;0.18) CCCATAGGACGCAGCCTACCA 0.652000 11 104 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106235831 106235831 + RNA SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr14:106235831C>G ENST00000390551.2 - 0 875 GTCAGGCTGACCTGGTTCTTG 0.632000 33 181 0 0 1 0 0 NRIP1 8204 broad.mit.edu 37 21 16337215 16337215 + Nonsense_Mutation SNP G G C rs143987252 TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr21:16337215G>C ENST00000400202.1 - 3 4011 c.3299C>G c.(3298-3300)tCa>tGa p.S1100* NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S1100*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S1100* P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 1100 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TGTGACCTGTGAGACACTTTC 0.398000 31 142 0 0 1 0 0 RBPJL 11317 broad.mit.edu 37 20 43938283 43938283 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr20:43938283C>T ENST00000343694.3 + 3 280 c.208C>T c.(208-210)Cgg>Tgg p.R70W RBPJL_ENST00000372743.1_Missense_Mutation_p.R70W|RBPJL_ENST00000372741.3_Missense_Mutation_p.R70W NM_014276.2 NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 70 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) ACAGACTGTGCGGATCCTGCA 0.607000 22 28 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838397 16838397 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr11:16838397C>G ENST00000355661.3 - 11 1826 c.1816G>C c.(1816-1818)Gac>Cac p.D606H PLEKHA7_ENST00000531066.1_Missense_Mutation_p.D606H|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D606H Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 606 Interaction with CTNND1. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 AGCGAGATGTCCACACTCCTC 0.662000 5 72 0 0 1 0 0 GLIPR1L2 144321 broad.mit.edu 37 12 75785095 75785095 + Missense_Mutation SNP G G A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr12:75785095G>A ENST00000550916.1 + 1 246 c.199G>A c.(199-201)Gac>Aac p.D67N GLIPR1L2_ENST00000378689.2_Missense_Mutation_p.D67N|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.D67N|GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.D67N|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.D67N NM_001270396.1 NP_001257325.1 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 67 integral to membrane kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 GCTGCGGGGCGACGTCATTCC 0.562000 OREG0021999 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 92 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39838149 39838150 + Splice_Site DEL AG AG - TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:39838149_39838150delAG ENST00000564288.1 + 52 13872 c.e52-1 MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000476350.1_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000289893.4_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000372915.3_Splice_Site|MACF1_ENST00000317713.7_Splice_Site|MACF1_ENST00000545844.1_Splice_Site Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTCTTTAAACAGAGTCTACTAG 0.386 8 63 --- --- --- --- LRP8 7804 broad.mit.edu 37 1 53793508 53793509 + In_Frame_Ins INS - - GCC TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr1:53793508_53793509insGCC ENST00000306052.6 - 1 177_178 c.76_77insGGC c.(76-78)cca>GGCcca p.25_26insG LRP8_ENST00000371454.2_In_Frame_Ins_p.25_26insG|LRP8_ENST00000354412.3_In_Frame_Ins_p.25_26insG|LRP8_ENST00000347547.2_In_Frame_Ins_p.25_26insG NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 25 Q -> R (in dbSNP:rs4926972). cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 AAGATGCTGGagctgcagcagc 0.728 2 4 --- --- --- --- SACM1L 22908 broad.mit.edu 37 3 45785086 45785087 + Frame_Shift_Ins INS - - T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:45785086_45785087insT ENST00000389061.5 + 20 1893_1894 c.1689_1690insT c.(1687-1692)acttttfs p.TF563fs SACM1L_ENST00000541314.1_Frame_Shift_Ins_p.TF502fs|SACM1L_ENST00000418611.1_Frame_Shift_Ins_p.TF460fs NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 563 Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) GCATTGGAACATTTTTTATCAT 0.391 28 114 --- --- --- --- ADIPOQ 9370 broad.mit.edu 37 3 186572338 186572339 + Frame_Shift_Ins INS - - T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:186572338_186572339insT ENST00000412955.2 + 3 721_722 c.580_581insT c.(580-582)ggafs p.G194fs ADIPOQ_ENST00000444204.2_Frame_Shift_Ins_p.G194fs|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Frame_Shift_Ins_p.G194fs Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 194 C1q. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) GGAAAATAATGTGGACCAGGCC 0.515 19 108 --- --- --- --- TP63 8626 broad.mit.edu 37 3 189582134 189582135 + Frame_Shift_Ins INS - - A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr3:189582134_189582135insA ENST00000264731.3 + 5 782_783 c.693_694insA c.(691-696)taaaaafs p.*K231fs TP63_ENST00000320472.5_Frame_Shift_Ins_p.*K231fs|TP63_ENST00000449992.1_Frame_Shift_Ins_p.*K52fs|TP63_ENST00000440651.2_Frame_Shift_Ins_p.*K231fs|TP63_ENST00000437221.1_Frame_Shift_Ins_p.*K137fs|TP63_ENST00000354600.5_Frame_Shift_Ins_p.*K137fs|TP63_ENST00000418709.2_Frame_Shift_Ins_p.*K231fs|TP63_ENST00000382063.4_Frame_Shift_Ins_p.*K146fs|TP63_ENST00000456148.1_Frame_Shift_Ins_p.*K137fs|TP63_ENST00000392460.3_Frame_Shift_Ins_p.*K231fs|TP63_ENST00000392461.3_Frame_Shift_Ins_p.*K137fs|TP63_ENST00000392463.2_Frame_Shift_Ins_p.*K137fs NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 231 anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TGCCTGTCTACAAAAAAGCTGA 0.510 HNSCC(45;0.13) 11 143 --- --- --- --- CTD-2296D1.4 0 broad.mit.edu 37 5 7372660 7372662 + RNA DEL CAT CAT - TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:7372660_7372662delCAT ENST00000513219.1 - 0 202 ccaccaccaccatcaccaccacc 0.601 3 4 --- --- --- --- SLC22A5 6584 broad.mit.edu 37 5 131726594 131726595 + Frame_Shift_Ins INS - - A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr5:131726594_131726595insA ENST00000245407.3 + 7 1486_1487 c.1265_1266insA c.(1264-1266)cgafs p.R422fs SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.R446fs|SLC22A5_ENST00000479605.1_3'UTR NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 422 positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CTGGTACCCCCAGGTAGGGACC 0.515 9 45 --- --- --- --- PITRM1 10531 broad.mit.edu 37 10 3206071 3206074 + Frame_Shift_Del DEL TGTC TGTC - TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr10:3206071_3206074delTGTC ENST00000380989.2 - 7 672_675 c.634_637delGACA c.(634-639)atfs p.DN212fs PITRM1_ENST00000224949.4_Frame_Shift_Del_p.DN212fs|PITRM1_ENST00000451104.2_Frame_Shift_Del_p.DN180fs|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA NM_001242307.1|NM_014889.3 NP_001229236.1|NP_055704.2 E7ES23 E7ES23_HUMAN pitrilysin metallopeptidase 1 180 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 ATCCTCTCATTGTCTGTCTTGAAA 0.412 10 50 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 6 8 --- --- --- --- ZNF750 79755 broad.mit.edu 37 17 80790224 80790225 + Frame_Shift_Ins INS - - CA TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx e91f3779-4ab6-425f-b667-19fbda3f8cca 698fe76b-d251-4cd4-aced-378aeee4c037 g.chr17:80790224_80790225insCA ENST00000269394.3 - 2 939_940 c.106_107insTG c.(106-108)gaafs p.E36fs TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 36 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) ATGTGACTTCTCATTGCAAGTA 0.411 35 59 --- --- --- ---