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 CDK5RAP1 51654 broad.mit.edu 37 20 31962020 31962020 + Splice_Site SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr20:31962020T>G ENST00000357886.4 - 10 1303 c.e10-2 CDK5RAP1_ENST00000477105.1_Splice_Site|CDK5RAP1_ENST00000346416.2_Splice_Site|CDK5RAP1_ENST00000473997.1_Splice_Site|CDK5RAP1_ENST00000339269.5_Splice_Site|CDK5RAP1_ENST00000544843.1_Splice_Site Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity p.?(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 CTGCAGAACCTGATGAAACAG 0.463000 27 155 0 0 0.021523 0 0 MIPOL1 145282 broad.mit.edu 37 14 37838794 37838794 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr14:37838794C>G ENST00000327441.7 + 11 1367 c.901C>G c.(901-903)Ctg>Gtg p.L301V MIPOL1_ENST00000556451.1_Missense_Mutation_p.L270V|MIPOL1_ENST00000539062.2_Missense_Mutation_p.L270V|MIPOL1_ENST00000537471.1_Missense_Mutation_p.L301V|MIPOL1_ENST00000536774.1_Missense_Mutation_p.L120V|MIPOL1_ENST00000396294.2_Missense_Mutation_p.L301V|MIPOL1_ENST00000545536.1_Missense_Mutation_p.L270V NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 301 p.L301V(1)|p.L301>?(1) breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) CATGAGACATCTGACTGCTGA 0.463000 27 52 0 0 0.005443 0 0 KIAA1377 57562 broad.mit.edu 37 11 101833686 101833686 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:101833686A>T ENST00000263468.8 + 6 2190 c.1920A>T c.(1918-1920)gaA>gaT p.E640D KIAA1377_ENST00000537689.1_Missense_Mutation_p.E441D NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 640 protein binding p.E640D(1) breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GCAATATAGAAAACAATGCTG 0.348000 13 78 0 0 0.016723 0 0 CAP2 10486 broad.mit.edu 37 6 17539634 17539634 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:17539634T>C ENST00000229922.2 + 8 1303 c.771T>C c.(769-771)tcT>tcC p.S257S CAP2_ENST00000378990.2_Silent_p.S231S|CAP2_ENST00000489374.1_Silent_p.S145S|CAP2_ENST00000465994.1_Silent_p.S193S|CAP2_ENST00000493172.1_Intron NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 257 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding p.S257S(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) AGGAATCTTCTCCTTCACGCT 0.522000 6 117 0 0 0.001168 0 0 MYOZ2 51778 broad.mit.edu 37 4 120107259 120107259 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:120107259T>C ENST00000307128.5 + 6 912 c.699T>C c.(697-699)aaT>aaC p.N233N NM_016599.4 NP_057683.1 Q9NPC6 MYOZ2_HUMAN myozenin 2 233 protein phosphatase 2B binding p.N233N(1) endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 GGTCCTTTAATAGGACTCCTA 0.393000 22 72 0 0 0.014323 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88257814 88257814 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:88257814T>C ENST00000357081.3 - 13 1374 c.1230A>G c.(1228-1230)caA>caG p.Q410Q AGTPBP1_ENST00000376083.3_Silent_p.Q370Q|AGTPBP1_ENST00000376109.3_Silent_p.Q422Q|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Silent_p.Q248Q Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 410 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 p.Q370Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 GTCCCGGTTCTTGCTGGGGTT 0.294000 19 78 0 0 0.006122 0 0 ADAM23 8745 broad.mit.edu 37 2 207436497 207436497 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:207436497C>A ENST00000264377.3 + 17 1941 c.1613C>A c.(1612-1614)gCt>gAt p.A538D ADAM23_ENST00000374416.1_Missense_Mutation_p.A538D|ADAM23_ENST00000374415.3_Missense_Mutation_p.A538D NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 538 Disintegrin. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.A538D(2) NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TCCAACGGGGCTCACTGCAGC 0.443000 14 124 1.99824e-07 2.09571e-07 0.004990 1 0 VIPR1 7433 broad.mit.edu 37 3 42577695 42577695 + Silent SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:42577695G>T ENST00000433647.1 + 14 1797 c.1173G>T c.(1171-1173)acG>acT p.T391T VIPR1_ENST00000325123.4_Silent_p.T432T|VIPR1_ENST00000543411.1_Silent_p.T384T|VIPR1_ENST00000438259.2_Silent_p.T222T NM_001251882.1 NP_001238811.1 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 432 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity p.T432T(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) CGTGCAGCACGCAGGTTTCCA 0.692000 4 15 0.00909568 0.00926811 0.009096 1 0 NKRF 55922 broad.mit.edu 37 X 118723319 118723319 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chrX:118723319T>C ENST00000371527.1 - 2 2721 c.2069A>G c.(2068-2070)aAt>aGt p.N690S NKRF_ENST00000542113.1_Missense_Mutation_p.N705S|NKRF_ENST00000304449.5_Missense_Mutation_p.N690S|NKRF_ENST00000487600.1_Intron NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 690 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding p.N690S(1)|p.N705S(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 AAGATCTCAATTTGCTTGAGG 0.383000 48 25 0 0 0.014410 0 0 SLC6A16 28968 broad.mit.edu 37 19 49797169 49797169 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:49797169G>A ENST00000454748.3 - 9 1734 c.1533C>T c.(1531-1533)agC>agT p.S511S SLC6A16_ENST00000335875.4_Silent_p.S511S Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 511 integral to membrane|intracellular neurotransmitter:sodium symporter activity p.S511S(1) NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) CTATTGCGCTGCTCAGCCCCA 0.483000 87 176 0 0 0.014410 0 0 ABCA13 154664 broad.mit.edu 37 7 48284188 48284188 + Nonsense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:48284188G>A ENST00000435803.1 + 11 1302 c.1278G>A c.(1276-1278)tgG>tgA p.W426* NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 426 transport integral to membrane ATP binding|ATPase activity p.W426*(1)|p.W371*(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AGCATCTGTGGAAATTGCAAA 0.393000 6 47 0 0 0.001168 0 0 MYOZ2 51778 broad.mit.edu 37 4 120107338 120107338 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:120107338G>C ENST00000307128.5 + 6 991 c.778G>C c.(778-780)Gaa>Caa p.E260Q NM_016599.4 NP_057683.1 Q9NPC6 MYOZ2_HUMAN myozenin 2 260 protein phosphatase 2B binding p.E260Q(1) endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 CACTGTACCAGAATCAGAAGA 0.383000 14 48 0 0 0.020292 0 0 ARID1B 57492 broad.mit.edu 37 6 157521944 157521944 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:157521944C>G ENST00000346085.5 + 18 4217 c.4216C>G c.(4216-4218)Cag>Gag p.Q1406E ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1388E|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1446E|ARID1B_ENST00000350026.5_Missense_Mutation_p.Q1393E NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1393 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.Q1406E(1)|p.Q1388E(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GATGTACAACCAGTATGGAGG 0.632000 20 108 0 0 0.010504 0 0 SCEL 8796 broad.mit.edu 37 13 78178541 78178541 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr13:78178541A>G ENST00000377246.3 + 18 1173 c.1088A>G c.(1087-1089)aAt>aGt p.N363S SCEL-AS1_ENST00000457528.2_RNA|SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000469982.1_Intron|SCEL_ENST00000349847.3_Missense_Mutation_p.N383S|SCEL_ENST00000535157.1_Intron NM_003843.3 NP_003834.3 O95171 SCEL_HUMAN sciellin 383 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding p.N383S(1) breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) ACAAATAAAAATATTACGAGG 0.333000 83 182 0 0 0.014410 0 0 OR51A4 401666 broad.mit.edu 37 11 4967692 4967692 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:4967692A>G ENST00000380373.2 - 1 664 c.639T>C c.(637-639)atT>atC p.I213I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I213I(1) large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGCAATGAGAATAAAGTCTA 0.428000 18 79 0 0 0.021523 0 0 LAMA3 3909 broad.mit.edu 37 18 21437915 21437915 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr18:21437915G>A ENST00000313654.9 + 33 4485 c.4244G>A c.(4243-4245)gGa>gAa p.G1415E LAMA3_ENST00000399516.3_Missense_Mutation_p.G1415E NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1415 Domain III B.|Laminin EGF-like 12. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.G1415E(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTGAGCCAGGAGTGTGTGAC 0.562000 57 71 0 0 0.014410 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43545795 43545795 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:43545795G>C ENST00000430334.3 - 5 1221 c.1088C>G c.(1087-1089)gCa>gGa p.A363G PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A274G NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 363 intracellular signal transduction cytoplasm metal ion binding p.A363G(1) breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) TCCAGAGGCTGCCTGGGCAGG 0.642000 8 43 0 0 0.006214 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835714 12835714 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:12835714C>T ENST00000357726.4 + 2 343 c.316C>T c.(316-318)Cgg>Tgg p.R106W NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 106 p.R106W(1) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTTGGACTTGCGGAATGTGGA 0.512000 51 333 0 0 0.014410 0 0 FSIP1 161835 broad.mit.edu 37 15 39910371 39910371 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr15:39910371T>C ENST00000350221.3 - 11 1473 c.1264A>G c.(1264-1266)Atc>Gtc p.I422V NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 422 p.I422V(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) AGTTTAATGATGGATTTTTGT 0.368000 53 65 0 0 0.014410 0 0 NBEA 26960 broad.mit.edu 37 13 35923273 35923273 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr13:35923273A>G ENST00000540320.1 + 37 6466 c.5932A>G c.(5932-5934)Ata>Gta p.I1978V NBEA_ENST00000379939.2_Missense_Mutation_p.I1975V|NBEA_ENST00000400445.3_Missense_Mutation_p.I1978V|NBEA_ENST00000310336.4_Missense_Mutation_p.I1978V Q8NFP9 NBEA_HUMAN neurobeachin 1978 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding p.I1978V(1) NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GAAGGACCATATAGTCCGTGT 0.348000 10 51 0 0 0.010729 0 0 GPR133 283383 broad.mit.edu 37 12 131487771 131487771 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:131487771C>T ENST00000261654.5 + 10 1627 c.1068C>T c.(1066-1068)acC>acT p.T356T GPR133_ENST00000535015.1_Silent_p.T388T|GPR133_ENST00000376682.4_Silent_p.T42T NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 356 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.T356T(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CTATTGACACCGTCATGGGCC 0.602000 52 167 0 0 0.014410 0 0 PER1 5187 broad.mit.edu 37 17 8046123 8046123 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:8046123C>T ENST00000317276.4 - 20 3340 c.3103G>A c.(3103-3105)Gca>Aca p.A1035T PER1_ENST00000581082.1_Missense_Mutation_p.A1012T NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 1035 Ser-rich. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity p.A1035T(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCGGAAAGTGCGTCCTGATTG 0.647000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 8 26 0 0 0.004482 0 0 CD27 939 broad.mit.edu 37 12 6554304 6554304 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:6554304C>G ENST00000266557.3 + 1 272 c.43C>G c.(43-45)Ctg>Gtg p.L15V CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA NM_001242.4 NP_001233 P26842 CD27_HUMAN CD27 molecule 15 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity p.T14>?(1)|p.L15V(1) kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3) 10 TCTGGGGACCCTGGTGGGGCT 0.632000 10 22 0 0 0.006214 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54745612 54745612 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr8:54745612T>A ENST00000355221.3 - 3 707 c.148A>T c.(148-150)Att>Ttt p.I50F ATP6V1H_ENST00000359530.2_Missense_Mutation_p.I50F|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.I50F|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.I10F NM_213619.2 NP_998784.1 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H 50 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism p.I50F(1) endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) AACCTCTGAATAAACTCACAA 0.368000 79 77 0 0 0.014410 0 0 LST3 0 broad.mit.edu 37 12 21242857 21242857 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:21242857C>T ENST00000540229.1 + 16 2129 c.2064C>T c.(2062-2064)ggC>ggT p.G688G LST3_ENST00000381541.3_Silent_p.G627G|SLCO1B7_ENST00000421593.2_Silent_p.G580G|SLCO1B7_ENST00000554957.1_Silent_p.G627G|SLCO1B3_ENST00000553473.1_Silent_p.G688G|RP11-125O5.2_ENST00000590779.1_Intron p.G580G(1) CCTTCTTCGGCTTGAAGGTAG 0.299000 15 48 0 0 0.003163 0 0 NSD1 64324 broad.mit.edu 37 5 176562709 176562709 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:176562709G>A ENST00000439151.2 + 2 650 c.605G>A c.(604-606)gGt>gAt p.G202D NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.G202D|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 202 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding p.G202D(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TCAGAGAATGGTGTAAAAGTG 0.468000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 58 100 0 0 0.014410 0 0 THSD7B 80731 broad.mit.edu 37 2 137814383 137814383 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:137814383G>A ENST00000409968.1 + 3 711 c.533G>A c.(532-534)cGg>cAg p.R178Q THSD7B_ENST00000272643.3_Missense_Mutation_p.R178Q|THSD7B_ENST00000543459.1_Missense_Mutation_p.R37Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R147Q thrombospondin, type I, domain containing 7B p.R147Q(1)|p.R178Q(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTTGTCCCCGGGATTGTGTA 0.498000 48 324 0 0 0.014410 0 0 CAPZB 832 broad.mit.edu 37 1 19670914 19670914 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:19670914T>C ENST00000401084.2 - 8 802 c.669A>G c.(667-669)aaA>aaG p.K223K CAPZB_ENST00000264202.6_Silent_p.K223K|CAPZB_ENST00000433834.1_Silent_p.K252K|CAPZB_ENST00000375142.1_Silent_p.K223K|CAPZB_ENST00000264203.3_Intron|CAPZB_ENST00000375144.1_Silent_p.K211K NM_001282162.1|NM_004930.3 NP_001269091.1|NP_004921.1 P47756 CAPZB_HUMAN capping protein (actin filament) muscle Z-line, beta 223 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement cytosol|F-actin capping protein complex|WASH complex actin binding p.K223K(1) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) TACTTCTGATTTTATTTTCCA 0.517000 OREG0013171 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 112 0 0 0.012213 0 0 SLC5A8 160728 broad.mit.edu 37 12 101595946 101595946 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:101595946A>T ENST00000536262.2 - 3 1023 c.465T>A c.(463-465)aaT>aaA p.N155K NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 155 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity p.N155K(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATGTACCTTGATTCAAAGCCA 0.388000 29 47 0 0 0.012213 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281971 71281971 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:71281971G>A ENST00000335793.3 - 2 1063 c.669C>T c.(667-669)agC>agT p.S223S CDC42EP4_ENST00000439510.2_Silent_p.S153S|CDC42EP4_ENST00000581014.1_Intron Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 223 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding p.S223S(1) cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) TGTCCATGATGCTGAGGACGT 0.657000 70 103 0 0 0.014410 0 0 ZNF317 57693 broad.mit.edu 37 19 9271247 9271247 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:9271247A>T ENST00000247956.6 + 7 1231 c.926A>T c.(925-927)gAt>gTt p.D309V ZNF317_ENST00000360385.3_Missense_Mutation_p.D277V NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D309V(1)|p.D309>?(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TACAAGTGTGATCAGTGCGGG 0.572000 39 78 0 0 0.009718 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205902 36205902 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:36205902A>C ENST00000392197.2 + 3 692 c.374A>C c.(373-375)aAg>aCg p.K125T ZBTB32_ENST00000262630.3_Missense_Mutation_p.K125T Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 125 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding p.K125T(1) large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCAGGCCTGAAGAAACATCAG 0.577000 20 88 0 0 0.007413 0 0 RERE 473 broad.mit.edu 37 1 8601355 8601355 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:8601355A>C ENST00000337907.3 - 8 1382 c.748T>G c.(748-750)Ttt>Gtt p.F250V RERE_ENST00000400908.2_Missense_Mutation_p.F250V|RERE_ENST00000400907.2_Missense_Mutation_p.F250V NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 250 BAH. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F250V(1) central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ATGTCAGAAAAATGGGAGATG 0.398000 60 64 0 0 0.014410 0 0 CTBP2 1488 broad.mit.edu 37 10 126727575 126727575 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:126727575T>A ENST00000337195.5 - 3 448 c.49A>T c.(49-51)Att>Ttt p.I17F CTBP2_ENST00000531469.1_Missense_Mutation_p.I17F|CTBP2_ENST00000411419.2_Missense_Mutation_p.I17F|CTBP2_ENST00000494626.2_Missense_Mutation_p.I17F|CTBP2_ENST00000476817.1_5'UTR NM_001329.2 NP_001320.1 P56545 CTBP2_HUMAN C-terminal binding protein 2 17 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding p.I17F(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCTTCACAAATTCTGTCCAAT 0.468000 20 96 0 0 0.010504 0 0 TRPS1 7227 broad.mit.edu 37 8 116632282 116632282 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr8:116632282C>T ENST00000395715.3 - 3 620 c.43G>A c.(43-45)Gtc>Atc p.V15I TRPS1_ENST00000519076.1_Missense_Mutation_p.V2I|TRPS1_ENST00000519674.1_Missense_Mutation_p.V2I|TRPS1_ENST00000520276.1_Missense_Mutation_p.V6I|TRPS1_ENST00000220888.5_Missense_Mutation_p.V2I NM_001282902.1|NM_001282903.1|NM_014112.2 NP_001269831.1|NP_001269832.1|NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 2 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V15I(1)|p.V2I(1) autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTTTTCCGGACCATATCTGCA 0.408000 Langer-Giedion syndrome 14 87 0 0 0.020292 0 0 DYSF 8291 broad.mit.edu 37 2 71795448 71795448 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:71795448G>T ENST00000258104.3 + 26 3067 c.2790G>T c.(2788-2790)tgG>tgT p.W930C DYSF_ENST00000410020.3_Missense_Mutation_p.W948C|DYSF_ENST00000409651.1_Missense_Mutation_p.W962C|DYSF_ENST00000413539.2_Missense_Mutation_p.W961C|DYSF_ENST00000409744.1_Missense_Mutation_p.W917C|DYSF_ENST00000409366.1_Missense_Mutation_p.W931C|DYSF_ENST00000429174.2_Missense_Mutation_p.W930C|DYSF_ENST00000394120.2_Missense_Mutation_p.W931C|DYSF_ENST00000409762.1_Missense_Mutation_p.W947C|DYSF_ENST00000410041.1_Missense_Mutation_p.W948C|DYSF_ENST00000409582.3_Missense_Mutation_p.W947C NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 930 W -> C (in LGMD2B; uncetain pathogenicity). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.W948C(1)|p.W930C(1) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CTGGAGATTGGTTCGTGTGTC 0.647000 234 486 2.56588e-125 2.87326e-125 0.014410 1 0 COL6A6 131873 broad.mit.edu 37 3 130292969 130292969 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:130292969C>A ENST00000358511.6 + 7 3178 c.3147C>A c.(3145-3147)caC>caA p.H1049Q COL6A6_ENST00000453409.2_Missense_Mutation_p.H1049Q NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1049 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen p.H1049Q(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 ATACCTATCACCCGGAGTTTC 0.433000 24 56 1.10513e-12 1.17046e-12 0.014323 1 0 ACO2 50 broad.mit.edu 37 22 41865168 41865168 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr22:41865168A>G ENST00000396512.3 + 1 35 c.18A>G c.(16-18)ctA>ctG p.L6L ACO2_ENST00000216254.4_Silent_p.L6L Q99798 ACON_HUMAN aconitase 2, mitochondrial 6 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity p.L6L(1) breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 CCTACAGCCTACTGGTGACTC 0.647000 22 108 0 0 0.018920 0 0 MGAT1 4245 broad.mit.edu 37 5 180219243 180219243 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:180219243G>T ENST00000446023.2 - 3 1479 c.729C>A c.(727-729)gaC>gaA p.D243E MGAT1_ENST00000307826.4_Missense_Mutation_p.D243E|MGAT1_ENST00000427865.2_Missense_Mutation_p.D243E|MGAT1_ENST00000393340.3_Missense_Mutation_p.D243E|MGAT1_ENST00000333055.3_Missense_Mutation_p.D243E NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 243 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding p.D243E(1) endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTTGCCGTTGTCATTCCAGG 0.642000 7 140 8.12818e-05 8.40173e-05 0.001984 1 0 FAM126A 84668 broad.mit.edu 37 7 22985595 22985595 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:22985595T>C ENST00000432176.2 - 11 1411 c.1179A>G c.(1177-1179)gaA>gaG p.E393E FAM126A_ENST00000409923.1_3'UTR NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 393 cytoplasm|membrane signal transducer activity p.E393E(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 TAGTTTCTTTTTCTTTTCCTC 0.418000 113 195 0 0 0.014410 0 0 GPX6 257202 broad.mit.edu 37 6 28474199 28474199 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:28474199A>C ENST00000361902.1 - 3 298 c.249T>G c.(247-249)aaT>aaG p.N83K GPX6_ENST00000474923.1_Missense_Mutation_p.N83K|GPX6_ENST00000483058.1_5'UTR NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 83 response to oxidative stress extracellular region glutathione peroxidase activity p.N83K(1) NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) CCTGTAGTGCATTCAGTTCTG 0.443000 20 119 0 0 0.012319 0 0 CEACAM6 4680 broad.mit.edu 37 19 42260767 42260767 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:42260767G>A ENST00000199764.6 + 2 542 c.324G>A c.(322-324)ctG>ctA p.L108L CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 108 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane p.L108L(1) breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CATCCCTGCTGATCCAGAACG 0.458000 166 382 0 0 0.014410 0 0 HOXB4 3214 broad.mit.edu 37 17 46654171 46654171 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:46654171C>A ENST00000332503.5 - 2 2460 c.669G>T c.(667-669)ttG>ttT p.L223F HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA NM_024015.4 NP_076920.1 P17483 HXB4_HUMAN homeobox B4 223 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L223F(1) central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 TGGTGTTGGGCAACTTGTGGT 0.677000 66 121 9.65139e-37 1.0587e-36 0.014410 1 0 LRP10 26020 broad.mit.edu 37 14 23344694 23344694 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr14:23344694C>T ENST00000359591.4 + 5 1228 c.537C>T c.(535-537)ttC>ttT p.F179F LRP10_ENST00000546834.1_Silent_p.F179F NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 179 endocytosis coated pit|integral to membrane p.F179F(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) CAGACCCCTTCCCTGGCCTGA 0.582000 71 191 0 0 0.014410 0 0 ERCC2 2068 broad.mit.edu 37 19 45856352 45856352 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:45856352C>G ENST00000391945.4 - 19 1897 c.1820G>C c.(1819-1821)gGa>gCa p.G607A ERCC2_ENST00000391944.3_Missense_Mutation_p.G529A NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 607 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding p.G607A(1) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) AAAGTCGATTCCCTCGGACAC 0.642000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 43 109 0 0 0.014410 0 0 SIM1 6492 broad.mit.edu 37 6 100868688 100868688 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:100868688G>C ENST00000369208.3 - 10 1927 c.1145C>G c.(1144-1146)tCc>tGc p.S382C SIM1_ENST00000262901.4_Missense_Mutation_p.S382C P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 382 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.S382C(1)|p.S382*(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGAAGTCCTGGATTTTGACTT 0.473000 47 82 0 0 0.014410 0 0 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:153247289G>C ENST00000281708.4 - 10 2742 c.1513C>G c.(1513-1515)Cgc>Ggc p.R505G FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 21 107 0 0 0.010504 0 0 TPRA1 131601 broad.mit.edu 37 3 127294260 127294260 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:127294260G>A ENST00000355552.3 - 9 1135 c.759C>T c.(757-759)atC>atT p.I253I TPRA1_ENST00000450633.2_Silent_p.I253I|TPRA1_ENST00000489960.1_Silent_p.I253I|TPRA1_ENST00000296210.7_Intron|TPRA1_ENST00000465915.1_5'UTR NM_001136053.1 NP_001129525.1 Q86W33 TPRA1_HUMAN transmembrane protein, adipocyte asscociated 1 253 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity p.I253I(1) endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 GCCCCTCGATGATGTCGAAGC 0.682000 OREG0015772 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 22 0 0 0.003080 0 0 PNPT1 87178 broad.mit.edu 37 2 55895071 55895071 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:55895071T>C ENST00000447944.2 - 12 1085 c.999A>G c.(997-999)ccA>ccG p.P333P NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 333 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding p.P333P(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTATTTCATATGGATCGGCTT 0.274000 22 61 0 0 0.010818 0 0 ACD 65057 broad.mit.edu 37 16 67692470 67692470 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:67692470G>T ENST00000219251.8 - 9 1397 c.1066C>A c.(1066-1068)Ccc>Acc p.P356T ACD_ENST00000393919.4_Missense_Mutation_p.P359T NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 359 Ser-rich. intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding p.P356T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GAGGAACTGGGTGAGGAAGGA 0.617000 23 107 3.28513e-13 3.49655e-13 0.021523 1 0 NUP155 9631 broad.mit.edu 37 5 37293028 37293028 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:37293028T>C ENST00000231498.3 - 34 4193 c.3990A>G c.(3988-3990)ttA>ttG p.L1330L NUP155_ENST00000381843.2_Silent_p.L1271L|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Silent_p.L1266L NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1330 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity p.L1330L(1) endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATCTTATCAATAATACATGTA 0.313000 69 137 0 0 0.014410 0 0 SELP 6403 broad.mit.edu 37 1 169578782 169578782 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:169578782A>G ENST00000263686.6 - 8 1330 c.1293T>C c.(1291-1293)gaT>gaC p.D431D SELP_ENST00000367788.2_Silent_p.D369D|SELP_ENST00000367794.2_Silent_p.D369D|SELP_ENST00000367786.2_Silent_p.D369D|SELP_ENST00000458599.2_Silent_p.D369D|SELP_ENST00000367793.2_Silent_p.D369D|SELP_ENST00000367792.2_Silent_p.D369D|SELP_ENST00000367791.2_Intron NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 431 Sushi 4. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding p.D431D(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GTCCCAAGTTATCACACCGAA 0.488000 42 32 0 0 0.014410 0 0 INSC 387755 broad.mit.edu 37 11 15212291 15212291 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:15212291A>G ENST00000379554.3 + 6 811 c.765A>G c.(763-765)acA>acG p.T255T INSC_ENST00000530161.1_Silent_p.T208T|INSC_ENST00000424273.1_Silent_p.T208T|INSC_ENST00000525218.1_Silent_p.T208T|INSC_ENST00000528567.1_Silent_p.T208T|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Silent_p.T208T NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 255 cell differentiation|nervous system development cytoplasm binding p.T255T(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 TCTACACCACAGAGTCCACCA 0.507000 107 150 0 0 0.014410 0 0 ZDHHC11 79844 broad.mit.edu 37 5 837498 837498 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:837498C>T ENST00000283441.8 - 6 1265 c.882G>A c.(880-882)atG>atA p.M294I ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.M294I NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 294 integral to membrane acyltransferase activity|zinc ion binding p.M294I(2) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) CTCCTTTGTCCATTTGCACGT 0.483000 53 307 0 0 0.014410 0 0 ZNF813 126017 broad.mit.edu 37 19 53994029 53994029 + Silent SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:53994029T>G ENST00000396403.4 + 4 671 c.543T>G c.(541-543)tcT>tcG p.S181S ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S181S(1) large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AAAGAATTTCTTGTAGGCCCA 0.388000 44 248 0 0 0.011902 0 0 TYK2 7297 broad.mit.edu 37 19 10475635 10475635 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:10475635G>A ENST00000525621.1 - 8 1582 c.1101C>T c.(1099-1101)gaC>gaT p.D367D TYK2_ENST00000264818.6_Silent_p.D367D|TYK2_ENST00000529370.1_Silent_p.D367D|TYK2_ENST00000524462.1_Silent_p.D182D NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 367 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.D367D(1) breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CCCGCGGCCTGTCTGCCGGCT 0.617000 21 50 0 0 0.014323 0 0 OR2V2 285659 broad.mit.edu 37 5 180581946 180581946 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:180581946G>C ENST00000328275.1 + 1 4 c.4G>C c.(4-6)Gag>Cag p.E2Q NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E2Q(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGAGCCATGGAGACGTGGGT 0.493000 72 109 0 0 0.014410 0 0 ANKLE2 23141 broad.mit.edu 37 12 133327289 133327289 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:133327289T>C ENST00000539605.1 - 2 7285 c.601A>G c.(601-603)Acg>Gcg p.T201A ANKLE2_ENST00000357997.5_Missense_Mutation_p.T263A|ANKLE2_ENST00000337516.5_Missense_Mutation_p.T263A Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 263 cytoplasm|integral to membrane|nuclear envelope p.T263A(1) NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) GGTAAGGACGTTTTGCTTGGA 0.423000 46 40 0 0 0.014410 0 0 PRDM4 11108 broad.mit.edu 37 12 108140192 108140192 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:108140192A>G ENST00000228437.5 - 6 1595 c.1136T>C c.(1135-1137)cTg>cCg p.L379P RP11-864J10.4_ENST00000546714.1_RNA NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 379 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.L379P(1) biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 GCGGTCACACAGAGTACACCC 0.453000 3 104 0 0 0.014758 0 0 VAC14 55697 broad.mit.edu 37 16 70834774 70834774 + Silent SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:70834774G>T ENST00000261776.5 - 1 290 c.30C>A c.(28-30)ctC>ctA p.L10L NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 10 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity p.L10L(1) breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) TGTTAGGCGTGAGCGGCGCGA 0.667000 13 109 0.00244969 0.00250802 0.020292 1 0 CENPT 80152 broad.mit.edu 37 16 67863976 67863976 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:67863976G>A ENST00000562787.1 - 12 1426 c.878C>T c.(877-879)gCc>gTc p.A293V CENPT_ENST00000440851.2_Missense_Mutation_p.A293V|CENPT_ENST00000219172.3_Missense_Mutation_p.A293V|CENPT_ENST00000564817.1_Missense_Mutation_p.A293V NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 293 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding p.A293V(1) NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) CAGAAACTGGGCTGGTTTCCC 0.567000 32 36 0 0 0.009535 0 0 KAT6A 7994 broad.mit.edu 37 8 41794882 41794882 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr8:41794882T>C ENST00000396930.3 - 17 3787 c.3244A>G c.(3244-3246)Aga>Gga p.R1082G KAT6A_ENST00000406337.1_Missense_Mutation_p.R1082G|KAT6A_ENST00000265713.2_Missense_Mutation_p.R1082G NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1082 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding p.R1082G(1) AAGTATTCTCTAGGGAAAAGT 0.428000 43 59 0 0 0.008740 0 0 POFUT1 23509 broad.mit.edu 37 20 30803206 30803206 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr20:30803206T>C ENST00000375749.3 + 3 443 c.381T>C c.(379-381)ttT>ttC p.F127F POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Silent_p.F127F|POFUT1_ENST00000486717.1_3'UTR NM_015352.1 NP_056167.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 127 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity p.F127F(2) breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CATACTGCTTTGAGGTGGCAG 0.602000 85 180 0 0 0.014410 0 0 KCNA4 3739 broad.mit.edu 37 11 30033503 30033503 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:30033503C>T ENST00000328224.6 - 2 1956 c.723G>A c.(721-723)ctG>ctA p.L241L NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 241 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.L241L(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CTGGCCTCTTCAGGCGGCCTC 0.498000 61 99 0 0 0.014410 0 0 CMTR2 55783 broad.mit.edu 37 16 71319027 71319027 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:71319027A>C ENST00000338099.5 - 3 1133 c.797T>G c.(796-798)cTt>cGt p.L266R CMTR2_ENST00000434935.2_Missense_Mutation_p.L266R cap methyltransferase 2 266 p.L266R(1) ACCGTTTCCAAGAGTGGTCAG 0.398000 29 60 0 0 0.008361 0 0 MYRIP 25924 broad.mit.edu 37 3 40192632 40192632 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:40192632C>T ENST00000302541.6 + 4 768 c.426C>T c.(424-426)taC>taT p.Y142Y MYRIP_ENST00000396217.3_Intron|MYRIP_ENST00000444716.1_Silent_p.Y142Y|MYRIP_ENST00000539167.1_5'UTR|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.Y142Y NM_001284423.1|NM_001284426.1|NM_015460.2 NP_001271352.1|NP_001271355.1|NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 142 intracellular protein transport actin binding|zinc ion binding p.Y142Y(1)|p.Y142*(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) AGAACCTGTACAGGAAGCACC 0.552000 8 24 0 0 0.010729 0 0 ARMC3 219681 broad.mit.edu 37 10 23290965 23290965 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:23290965A>G ENST00000298032.5 + 12 1627 c.1543A>G c.(1543-1545)Aat>Gat p.N515D ARMC3_ENST00000409983.3_Missense_Mutation_p.N515D|ARMC3_ENST00000409049.3_Missense_Mutation_p.N515D|ARMC3_ENST00000376528.4_Missense_Mutation_p.N252D NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 515 binding p.N515D(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GCTGACGGCCAATGAATTATG 0.532000 13 23 0 0 0.020292 0 0 POLR3A 11128 broad.mit.edu 37 10 79769683 79769683 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:79769683G>A ENST00000372371.3 - 13 1846 c.1709C>T c.(1708-1710)tCa>tTa p.S570L NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 570 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding p.S570L(1) breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AACCAGTATTGAAGCAATGAT 0.453000 21 50 0 0 0.008871 0 0 TRAF5 7188 broad.mit.edu 37 1 211529792 211529792 + Silent SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:211529792T>A ENST00000336184.2 + 4 420 c.360T>A c.(358-360)gtT>gtA p.V120V TRAF5_ENST00000367004.3_Silent_p.V120V|TRAF5_ENST00000427925.2_Silent_p.V120V|TRAF5_ENST00000261464.5_Silent_p.V120V|TRAF5_ENST00000462410.1_3'UTR NM_004619.3 NP_004610.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 120 V -> G (in dbSNP:rs3946808). apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding p.V120V(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) ATGCCAAGGTTATTCTGGGCC 0.378000 21 154 0 0 0.014323 0 0 PNPLA7 375775 broad.mit.edu 37 9 140444633 140444633 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:140444633T>C ENST00000406427.1 - 1 353 c.17A>G c.(16-18)gAt>gGt p.D6G PNPLA7_ENST00000277531.4_Missense_Mutation_p.D6G NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 6 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity p.D6G(1) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TGGGCTGTCATCTTTCTCTTC 0.547000 30 169 0 0 0.013726 0 0 PAH 5053 broad.mit.edu 37 12 103249082 103249082 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:103249082T>A ENST00000553106.1 - 6 1010 c.538A>T c.(538-540)Atg>Ttg p.M180L PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Missense_Mutation_p.M175L NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 180 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity p.M180L(1) endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TCTTCCTCCATGTATTCCACT 0.468000 13 85 0 0 0.003163 0 0 KIF12 113220 broad.mit.edu 37 9 116856478 116856478 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:116856478T>C ENST00000374118.3 - 10 1119 c.882A>G c.(880-882)ctA>ctG p.L294L KIF12_ENST00000473174.1_Intron NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 427 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.L294L(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 TCTCATTCTCTAGCATGAACT 0.627000 19 90 0 0 0.010504 0 0 IGF1R 3480 broad.mit.edu 37 15 99250976 99250976 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr15:99250976G>A ENST00000268035.6 + 2 891 c.280G>A c.(280-282)Gag>Aag p.E94K IGF1R_ENST00000558762.1_Missense_Mutation_p.E94K NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 94 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding p.E94K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GGCTGGCCTCGAGAGCCTCGG 0.577000 7 62 0 0 0.001984 0 0 PGM2 55276 broad.mit.edu 37 4 37850207 37850207 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:37850207G>A ENST00000381967.4 + 11 1447 c.1347G>A c.(1345-1347)gaG>gaA p.E449E PGM2_ENST00000537241.1_Silent_p.E289E NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 449 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity p.E449E(1) breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 TAAGTGCAGAGTTGGCTAGCT 0.408000 58 85 0 0 0.014410 0 0 GLI3 2737 broad.mit.edu 37 7 42004980 42004980 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:42004980G>T ENST00000395925.3 - 15 3775 c.3691C>A c.(3691-3693)Ctc>Atc p.L1231I GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1231 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L1231I(1) NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CTGTTGTGGAGCATCAAGTGC 0.632000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 41 94 1.41504e-22 1.52116e-22 0.011902 1 0 CTU1 90353 broad.mit.edu 37 19 51607330 51607330 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:51607330T>C ENST00000421832.2 - 2 541 c.497A>G c.(496-498)cAc>cGc p.H166R NM_145232.3 NP_660275.2 Q7Z7A3 CTU1_HUMAN cytosolic thiouridylase subunit 1 166 tRNA thio-modification|tRNA wobble uridine modification cytosol ATP binding|protein binding|transferase activity|tRNA binding p.H166R(1) large_intestine(2)|lung(1)|urinary_tract(1) 4 TGTCACGATGTGCGTGGCTCC 0.706000 10 12 0 0 0.016723 0 0 CUBN 8029 broad.mit.edu 37 10 16911845 16911845 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:16911845C>G ENST00000377833.4 - 59 9309 c.9244G>C c.(9244-9246)Gat>Cat p.D3082H NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3082 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.D3082H(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACATCAAAATCACTGAACCTG 0.413000 38 57 0 0 0.006999 0 0 SKIL 6498 broad.mit.edu 37 3 170079087 170079087 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:170079087C>T ENST00000458537.3 + 1 1677 c.968C>T c.(967-969)gCt>gTt p.A323V SKIL_ENST00000426052.2_Missense_Mutation_p.A303V|SKIL_ENST00000259119.4_Missense_Mutation_p.A323V|SKIL_ENST00000413427.2_Missense_Mutation_p.A323V NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 323 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 p.A323V(1) 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) TTTGAATCAGCTAAATGGCAT 0.398000 34 196 0 0 0.005524 0 0 COPB1 1315 broad.mit.edu 37 11 14490389 14490389 + Missense_Mutation SNP C C A rs139561241 byFrequency TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:14490389C>A ENST00000249923.3 - 16 2283 c.1983G>T c.(1981-1983)agG>agT p.R661S COPB1_ENST00000439561.2_Missense_Mutation_p.R661S NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 661 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity p.R661S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 CTGTCACATTCCTCTTTTCAG 0.378000 47 181 1.66251e-12 1.75215e-12 0.014410 1 0 SKIV2L2 23517 broad.mit.edu 37 5 54649078 54649078 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:54649078A>T ENST00000230640.5 + 14 1768 c.1514A>T c.(1513-1515)gAt>gTt p.D505V SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D404V NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 505 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.D505V(1) NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) CGCAAATTTGATGGGAAGGAT 0.333000 21 134 0 0 0.014323 0 0 SIM1 6492 broad.mit.edu 37 6 100868687 100868687 + Silent SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:100868687G>T ENST00000369208.3 - 10 1928 c.1146C>A c.(1144-1146)tcC>tcA p.S382S SIM1_ENST00000262901.4_Silent_p.S382S P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 382 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.S382S(1)|p.S382*(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGGAAGTCCTGGATTTTGACT 0.468000 47 84 3.21987e-24 3.47876e-24 0.014410 1 0 MYBPC3 4607 broad.mit.edu 37 11 47359095 47359095 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:47359095G>C ENST00000545968.1 - 25 2503 c.2449C>G c.(2449-2451)Cgg>Ggg p.R817G MYBPC3_ENST00000256993.4_Missense_Mutation_p.R816G|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R817G NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 816 Fibronectin type-III 1. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding p.R817G(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CGCATCCACCGGTAGCTCTTC 0.607000 9 43 0 0 0.006214 0 0 ATM 472 broad.mit.edu 37 11 108218083 108218083 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:108218083A>T ENST00000278616.4 + 59 9047 c.8662A>T c.(8662-8664)Ata>Tta p.I2888L C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.I2888L|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2888 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.I2888L(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ACTTGTACATATAGATCTAGG 0.303000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 53 89 0 0 0.014410 0 0 TNFRSF9 3604 broad.mit.edu 37 1 7993258 7993258 + Missense_Mutation SNP G G A rs143524950 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:7993258G>A ENST00000377507.3 - 7 809 c.643C>T c.(643-645)Cgg>Tgg p.R215W NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 215 Interaction with LRR-1. induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity p.R215W(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) TTTCTGCCCCGTTTAACAACA 0.428000 34 43 0 0 0.015359 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168463 25168463 + RNA SNP T T C rs61946940 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr13:25168463T>C ENST00000453498.1 + 0 1135 TPTE2P6_ENST00000440905.1_RNA TGACAGTCCATCTCTGTACGA 0.363000 3 41 0 0 0.001984 0 0 LENG8 114823 broad.mit.edu 37 19 54971986 54971986 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:54971986C>T ENST00000326764.5 + 16 2760 c.2281C>T c.(2281-2283)Ctg>Ttg p.L761L LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 0 protein binding p.L761L(1) breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GCAGGCCGAGCTGGCCTTCGA 0.711000 7 7 0 0 0.006214 0 0 C7orf55-LUC7L2 100996928 broad.mit.edu 37 7 139092032 139092032 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:139092032A>T ENST00000354926.4 + 6 977 c.623A>T c.(622-624)gAt>gTt p.D208V LUC7L2_ENST00000541515.3_Missense_Mutation_p.D274V|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.D205V|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.D207V NM_001270643.1|NM_016019.4 NP_001257572.1|NP_057103.2 p.D208V(1) CGACTGGCTGATCATTTTGGG 0.398000 24 108 0 0 0.006320 0 0 NLRP14 338323 broad.mit.edu 37 11 7079645 7079645 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:7079645C>T ENST00000299481.4 + 8 2943 c.2597C>T c.(2596-2598)gCc>gTc p.A866V NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 866 cell differentiation|multicellular organismal development|spermatogenesis ATP binding p.A866V(1) breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATGAGTGATGCCCTGCAACAT 0.363000 49 58 0 0 0.014410 0 0 XPR1 9213 broad.mit.edu 37 1 180843064 180843064 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:180843064A>G ENST00000367590.4 + 13 1992 c.1794A>G c.(1792-1794)ccA>ccG p.P598P XPR1_ENST00000367589.3_Silent_p.P533P NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 598 EXS. integral to plasma membrane G-protein coupled receptor activity p.P598P(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 TCTTTGCCCCACTTGAGGTTT 0.363000 40 37 0 0 0.007835 0 0 HEATR6 63897 broad.mit.edu 37 17 58145064 58145064 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:58145064T>C ENST00000184956.6 - 8 985 c.969A>G c.(967-969)ccA>ccG p.P323P HEATR6_ENST00000585976.1_Silent_p.P323P NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 323 Poly-Lys. binding p.P323P(1) NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) GGATTTTCTTTGGTTTTACTT 0.413000 43 99 0 0 0.014410 0 0 XPOT 11260 broad.mit.edu 37 12 64815090 64815090 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:64815090A>G ENST00000332707.5 + 9 1448 c.919A>G c.(919-921)Agt>Ggt p.S307G NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 307 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.S307G(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) AGTTAGTTGGAGTAAATTAAT 0.373000 47 166 0 0 0.013114 0 0 SAMD11 148398 broad.mit.edu 37 1 871255 871255 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:871255G>A ENST00000342066.3 + 5 492 c.409G>A c.(409-411)Gag>Aag p.E137K NM_152486.2 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 137 nucleus p.E137K(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) AGGCAGCCTGGAGATTGGCCT 0.677000 32 33 0 0 0.013726 0 0 TNFRSF4 7293 broad.mit.edu 37 1 1148065 1148065 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:1148065T>C ENST00000379236.3 - 4 394 c.390A>G c.(388-390)ccA>ccG p.P130P TNFRSF4_ENST00000453580.1_5'UTR NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 130 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity p.P130P(1) large_intestine(1)|lung(2)|urinary_tract(1) 4 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;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGAAGTGCCCTGGAGGGCAGG 0.697000 8 9 0 0 0.008291 0 0 ZNF253 56242 broad.mit.edu 37 19 20003518 20003518 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:20003518C>G ENST00000589717.1 + 4 1554 c.1462C>G c.(1462-1464)Ctt>Gtt p.L488V CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.L412V NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 488 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L488V(1)|p.L460V(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGTGACAGATCTTTTAAATGT 0.358000 3 121 0 0 0.004672 0 0 C19orf54 284325 broad.mit.edu 37 19 41248527 41248527 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:41248527G>A ENST00000378313.2 - 6 986 c.867C>T c.(865-867)tcC>tcT p.S289S C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000339153.3_Silent_p.S117S|C19orf54_ENST00000598729.1_Silent_p.S117S NM_198476.3 NP_940878.3 Q5BKX5 CS054_HUMAN chromosome 19 open reading frame 54 289 p.P148L(1)|p.S289S(1) breast(1)|lung(1)|urinary_tract(2) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TGCCCTGCTTGGACAGCAGGT 0.657000 10 34 0 0 0.008291 0 0 DLG5 9231 broad.mit.edu 37 10 79567584 79567584 + Missense_Mutation SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:79567584T>G ENST00000372391.2 - 25 4771 c.4766A>C c.(4765-4767)aAg>aCg p.K1589T DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.K1249T NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1589 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity p.K1589T(1) breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) AGGCAGGCCCTTGGCCTTCGT 0.572000 20 129 0 0 0.016522 0 0 SLC17A5 26503 broad.mit.edu 37 6 74331540 74331540 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:74331540A>G ENST00000355773.5 - 7 1233 c.965T>C c.(964-966)tTc>tCc p.F322S SLC17A5_ENST00000393019.3_3'UTR NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 322 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity p.F322S(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TTGAACATTGAACCTTAGGAT 0.313000 12 36 0 0 0.013537 0 0 CNOT2 4848 broad.mit.edu 37 12 70672040 70672040 + Nonsense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:70672040A>T ENST00000229195.3 + 2 613 c.34A>T c.(34-36)Aaa>Taa p.K12* CNOT2_ENST00000418359.3_Nonsense_Mutation_p.K12* NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 12 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity p.K12*(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) ATTATCTGAGAAAAGAAACTA 0.398000 38 105 0 0 0.006230 0 0 BMP8B 656 broad.mit.edu 37 1 40228856 40228856 + Nonsense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:40228856G>A ENST00000372827.3 - 6 1342 c.967C>T c.(967-969)Caa>Taa p.Q323* PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron NM_001720.3 NP_001711.2 P34820 BMP8B_HUMAN bone morphogenetic protein 8b 323 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity p.Q323*(1) endometrium(1)|liver(1)|ovary(1)|urinary_tract(1) 4 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GAGTAGCCTTGGGGAGCGATG 0.622000 39 142 0 0 0.007835 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284382 33284382 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:33284382G>A ENST00000431845.2 - 2 463 c.312C>T c.(310-312)gcC>gcT p.A104A ZBTB22_ENST00000418724.1_Silent_p.A104A NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 104 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A104A(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CAGTCTCAAAGGCGCCTGGGT 0.577000 52 210 0 0 0.014410 0 0 IGHG2 3501 broad.mit.edu 37 14 106110214 106110214 + RNA SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr14:106110214G>T ENST00000390545.2 - 0 403 GACCTCAGGGGTCCGGGAGAT 0.602000 58 60 6.4685e-43 7.13193e-43 0.014410 1 0 C5orf42 65250 broad.mit.edu 37 5 37183002 37183002 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:37183002C>T ENST00000274258.7 - 26 5511 c.1924G>A c.(1924-1926)Gat>Aat p.D642N C5orf42_ENST00000508244.1_Missense_Mutation_p.D1761N|C5orf42_ENST00000425232.2_Missense_Mutation_p.D1761N E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1761 p.D1761N(1)|p.D642N(1) breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ATACCAGAATCACAGAGTAGC 0.413000 44 74 0 0 0.013114 0 0 TTN 7273 broad.mit.edu 37 2 179616127 179616127 + Missense_Mutation SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:179616127T>G ENST00000360870.5 - 46 11222 c.11000A>C c.(10999-11001)aAa>aCa p.K3667T TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9512 Ig-like 22. 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) GTAATCTGTTTTCTTGGCAGA 0.363000 50 106 0 0 0.014410 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39909602 39909602 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:39909602C>T ENST00000425673.1 + 11 1547 c.1222C>T c.(1222-1224)Cgc>Tgc p.R408C PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R408C|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R408C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R349C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R408C Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 408 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity p.R408C(1)|p.R366C(1)|p.R349C(1) breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CTGTCTCCAGCGCCTCTTCTT 0.612000 86 180 0 0 0.014410 0 0 GIPR 2696 broad.mit.edu 37 19 46172841 46172841 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:46172841G>A ENST00000590918.1 + 2 162 c.63G>A c.(61-63)caG>caA p.Q21Q GIPR_ENST00000304207.8_Silent_p.Q21Q|GIPR_ENST00000263281.3_Silent_p.Q21Q NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 21 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane p.Q21Q(1) endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) TGCTGCTCCAGAGGGCGGAGG 0.657000 6 12 0 0 0.003080 0 0 C16orf54 283897 broad.mit.edu 37 16 29756070 29756070 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:29756070C>T ENST00000329410.3 - 2 298 c.203G>A c.(202-204)cGt>cAt p.R68H NM_175900.3 NP_787096.2 Q6UWD8 CP054_HUMAN chromosome 16 open reading frame 54 68 integral to membrane p.R68H(1) breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1) 6 GGTGGGTGCACGGTGGCTGGG 0.677000 4 3 0 0 0.009096 0 0 EP300 2033 broad.mit.edu 37 22 41489057 41489057 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr22:41489057A>G ENST00000263253.7 + 1 1268 c.49A>G c.(49-51)Aaa>Gaa p.K17E NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 17 Interaction with ALX1. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.K17E(1) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CAAGCGGCCTAAACTCTCATC 0.552000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 75 132 0 0 0.014410 0 0 CPT1B 1375 broad.mit.edu 37 22 51007850 51007850 + Splice_Site SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr22:51007850T>A ENST00000360719.2 - 19 2373 c.2236A>T c.(2236-2238)Aac>Tac p.N746Y CPT1B_ENST00000440709.1_Splice_Site_p.N665Y|CPT1B_ENST00000405237.3_Splice_Site_p.N746Y|CPT1B_ENST00000395650.2_Splice_Site_p.N746Y|CPT1B_ENST00000457250.1_Splice_Site_p.N712Y|CPT1B_ENST00000312108.7_Splice_Site_p.N746Y|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Splice_Site_p.N541Y NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 746 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity p.N746Y(1) central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) CGCTGGGCGTTCTGTGGGAGC 0.537000 21 98 0 0 0.008871 0 0 EVI2B 2124 broad.mit.edu 37 17 29631980 29631980 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:29631980C>G ENST00000330927.4 - 2 802 c.648G>C c.(646-648)ttG>ttC p.L216F NF1_ENST00000358273.4_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.L231F|EVI2B_ENST00000577894.1_Missense_Mutation_p.L216F|NF1_ENST00000356175.3_Intron NM_006495.3 NP_006486.3 P34910 EVI2B_HUMAN ecotropic viral integration site 2B 216 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3)|p.L216F(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) TTATAGCTACCAACATAGAAG 0.343000 53 161 0 0 0.014410 0 0 CUBN 8029 broad.mit.edu 37 10 16911660 16911660 + Nonsense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:16911660C>T ENST00000377833.4 - 59 9494 c.9429G>A c.(9427-9429)tgG>tgA p.W3143* NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3143 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.W3143*(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAGACATCTTCCAGCCTTTTG 0.448000 149 201 0 0 0.014410 0 0 ZNF133 7692 broad.mit.edu 37 20 18295856 18295856 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr20:18295856G>T ENST00000377671.3 + 7 917 c.358G>T c.(358-360)Gat>Tat p.D120Y ZNF133_ENST00000538547.1_Missense_Mutation_p.D26Y|ZNF133_ENST00000402618.2_Missense_Mutation_p.D58Y|ZNF133_ENST00000316358.4_Missense_Mutation_p.D121Y|ZNF133_ENST00000535822.1_Missense_Mutation_p.D26Y|ZNF133_ENST00000401790.1_Missense_Mutation_p.D121Y|ZNF133_ENST00000396026.3_Missense_Mutation_p.D124Y|ZNF133_ENST00000462170.1_3'UTR NM_001083330.2|NM_003434.4 NP_001076799.1|NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 121 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D120Y(1) autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 CCAGCCTGGGGATCCGGGCCC 0.562000 79 185 3.47267e-51 3.84858e-51 0.014410 1 0 ZNF106 64397 broad.mit.edu 37 15 42731243 42731243 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr15:42731243C>T ENST00000263805.4 - 8 4789 c.4463G>A c.(4462-4464)gGc>gAc p.G1488D ZNF106_ENST00000565380.1_Missense_Mutation_p.G716D|ZNF106_ENST00000565611.1_Missense_Mutation_p.G673D NM_001284306.1|NM_001284307.1|NM_022473.1 NP_001271235.1|NP_001271236.1|NP_071918.1 zinc finger protein 106 p.G1488D(1) TACAGGGATGCCATCTTTATA 0.358000 4 152 0 0 0.009096 0 0 CDK11B 984 broad.mit.edu 37 1 1572863 1572863 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:1572863C>A ENST00000407249.3 - 15 1485 c.1486G>T c.(1486-1488)Ggc>Tgc p.G496C CDK11B_ENST00000317673.7_Missense_Mutation_p.G494C|CDK11B_ENST00000341832.6_Missense_Mutation_p.G449C|CDK11B_ENST00000340677.5_Missense_Mutation_p.G483C P21127 CD11B_HUMAN cyclin-dependent kinase 11B 506 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding p.G496C(1) endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 ATGTTGCTGCCCACCACAATC 0.602000 5 44 3.59834e-05 3.7374e-05 0.001168 1 0 CPNE1 8904 broad.mit.edu 37 20 34214192 34214192 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr20:34214192T>C ENST00000317619.3 - 18 1979 c.1585A>G c.(1585-1587)Aag>Gag p.K529E CPNE1_ENST00000317677.5_Missense_Mutation_p.K534E|CPNE1_ENST00000397442.1_Missense_Mutation_p.K473E|CPNE1_ENST00000397443.1_Missense_Mutation_p.K529E|CPNE1_ENST00000352393.4_Missense_Mutation_p.K529E|CPNE1_ENST00000397446.1_Missense_Mutation_p.K529E|CPNE1_ENST00000397445.1_Missense_Mutation_p.K529E Q99829 CPNE1_HUMAN copine I 529 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity p.K529E(1) breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) GCAGGATCCTTGGCTGAGGGT 0.627000 88 207 0 0 0.014410 0 0 MIPOL1 145282 broad.mit.edu 37 14 37838795 37838795 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr14:37838795T>A ENST00000327441.7 + 11 1368 c.902T>A c.(901-903)cTg>cAg p.L301Q MIPOL1_ENST00000556451.1_Missense_Mutation_p.L270Q|MIPOL1_ENST00000539062.2_Missense_Mutation_p.L270Q|MIPOL1_ENST00000537471.1_Missense_Mutation_p.L301Q|MIPOL1_ENST00000536774.1_Missense_Mutation_p.L120Q|MIPOL1_ENST00000396294.2_Missense_Mutation_p.L301Q|MIPOL1_ENST00000545536.1_Missense_Mutation_p.L270Q NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 301 p.L301>?(1)|p.L301Q(1) breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) ATGAGACATCTGACTGCTGAA 0.463000 28 50 0 0 0.006320 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962362 69962362 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:69962362A>G ENST00000305231.7 + 1 170 c.124A>G c.(124-126)Atc>Gtc p.I42V UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.I42V NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 42 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.I42V(1) autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TATAAAGACAATCCTGGATGA 0.418000 64 141 0 0 0.014410 0 0 PAN2 9924 broad.mit.edu 37 12 56720613 56720613 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:56720613A>G ENST00000425394.2 - 7 1426 c.1050T>C c.(1048-1050)tcT>tcC p.S350S PAN2_ENST00000257931.5_Silent_p.S350S|PAN2_ENST00000440411.3_Silent_p.S350S|PAN2_ENST00000548043.1_Silent_p.S350S NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 350 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity p.S350S(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CACAGCCCTCAGAATCCCCAA 0.557000 165 205 0 0 0.014410 0 0 ZNF317 57693 broad.mit.edu 37 19 9271246 9271246 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:9271246G>T ENST00000247956.6 + 7 1230 c.925G>T c.(925-927)Gat>Tat p.D309Y ZNF317_ENST00000360385.3_Missense_Mutation_p.D277Y NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D309>?(1)|p.D309Y(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TTACAAGTGTGATCAGTGCGG 0.577000 38 77 1.00001e-27 1.08587e-27 0.009718 1 0 EFCAB5 374786 broad.mit.edu 37 17 28405458 28405458 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:28405458C>G ENST00000394835.3 + 15 3155 c.2963C>G c.(2962-2964)gCt>gGt p.A988G EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.A864G NM_198529.3 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 988 calcium ion binding p.A988G(1) breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 ATCCAATGTGCTGCAGAGACA 0.473000 22 54 0 0 0.010504 0 0 SLC4A8 9498 broad.mit.edu 37 12 51856143 51856143 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:51856143C>T ENST00000453097.2 + 10 1368 c.1151C>T c.(1150-1152)gCg>gTg p.A384V SLC4A8_ENST00000514353.3_Missense_Mutation_p.A331V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.A411V|SLC4A8_ENST00000535225.2_Missense_Mutation_p.A331V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.A331V NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 384 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity p.A384V(2)|p.A331V(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) GATCTCCTGGCGGGGATTGAT 0.458000 33 142 0 0 0.013726 0 0 MOV10 4343 broad.mit.edu 37 1 113217556 113217556 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:113217556C>G ENST00000413052.2 + 2 412 c.22C>G c.(22-24)Cgg>Ggg p.R8G MOV10_ENST00000369645.1_Missense_Mutation_p.R8G|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000544796.1_Missense_Mutation_p.R8G|MOV10_ENST00000357443.2_Missense_Mutation_p.R8G|MOV10_ENST00000468624.1_3'UTR NM_001130079.1|NM_020963.3 NP_001123551.1|NP_066014.1 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 8 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding p.R8G(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GTTCAGCTGCCGGCAGCTCCG 0.637000 20 69 0 0 0.006320 0 0 SYCE1 93426 broad.mit.edu 37 10 135369108 135369108 + Silent SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:135369108G>T ENST00000368517.3 - 11 853 c.715C>A c.(715-717)Cgg>Agg p.R239R SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Silent_p.R275R|SYCE1_ENST00000432597.2_Silent_p.R239R NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 275 cell division central element p.R275R(1)|p.R239R(1) breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CACCTctgccgcttctgctgc 0.587000 9 22 2.17888e-05 2.27407e-05 0.006214 1 0 ICOSLG 23308 broad.mit.edu 37 21 45651249 45651249 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr21:45651249A>C ENST00000407780.3 - 5 903 c.776T>G c.(775-777)aTc>aGc p.I259S ICOSLG_ENST00000400379.3_Missense_Mutation_p.I259S|ICOSLG_ENST00000400377.3_Missense_Mutation_p.I142S|ICOSLG_ENST00000344330.4_Missense_Mutation_p.I259S NM_001283052.1 NP_001269981.1 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand 259 B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding p.I259S(1) endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) GACAGCCAGGATGCTCCACGT 0.562000 25 45 0 0 0.009535 0 0 COL22A1 169044 broad.mit.edu 37 8 139620181 139620181 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr8:139620181G>A ENST00000303045.6 - 57 4476 c.4030C>T c.(4030-4032)Cct>Tct p.P1344S COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1324S NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1344 Collagen-like 13.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.P1344S(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GAACTCACAGGGGTTCCTGAA 0.532000 HNSCC(7;0.00092) 27 68 0 0 0.006320 0 0 DENND4C 55667 broad.mit.edu 37 9 19296129 19296129 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:19296129A>G ENST00000380432.2 + 2 250 c.217A>G c.(217-219)Aca>Gca p.T73A DENND4C_ENST00000602925.1_Missense_Mutation_p.T309A|DENND4C_ENST00000434457.2_Missense_Mutation_p.T309A Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 73 DENN. integral to membrane p.T73A(1) breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 ATCCATCAATACAAACAAATG 0.393000 87 169 0 0 0.014410 0 0 PKP4 8502 broad.mit.edu 37 2 159519804 159519804 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:159519804C>T ENST00000389757.3 + 15 2549 c.2424C>T c.(2422-2424)atC>atT p.I808I PKP4_ENST00000495123.1_3'UTR|PKP4_ENST00000389759.3_Silent_p.I808I|AC005042.4_ENST00000342892.4_RNA NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 808 cell adhesion desmosome protein binding p.I808I(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 TTGGTCCTATCCCAGGACTGT 0.483000 HNSCC(62;0.18) 21 54 0 0 0.012319 0 0 OGDH 4967 broad.mit.edu 37 7 44736651 44736651 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:44736651G>A ENST00000222673.5 + 15 2081 c.2039G>A c.(2038-2040)cGg>cAg p.R680Q OGDH_ENST00000439616.2_Missense_Mutation_p.R530Q|OGDH_ENST00000543843.1_Missense_Mutation_p.R631Q|OGDH_ENST00000447398.1_Missense_Mutation_p.R691Q|OGDH_ENST00000444676.1_Missense_Mutation_p.R695Q|OGDH_ENST00000449767.1_Missense_Mutation_p.R676Q NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 680 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R680Q(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GACGTGGAGCGGGGCACATTC 0.557000 17 108 0 0 0.007413 0 0 INPP5A 3632 broad.mit.edu 37 10 134579295 134579295 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:134579295G>C ENST00000368594.3 + 12 1199 c.922G>C c.(922-924)Gag>Cag p.E308Q INPP5A_ENST00000368593.3_Missense_Mutation_p.E308Q NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 308 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding p.E308Q(2) cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) GTTTGACAAGGAGTTGTCTGT 0.502000 25 84 0 0 0.006320 0 0 ATRNL1 26033 broad.mit.edu 37 10 117607452 117607452 + Missense_Mutation SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:117607452T>G ENST00000355044.3 + 28 4094 c.3968T>G c.(3967-3969)tTt>tGt p.F1323C ATRNL1_ENST00000423111.2_Missense_Mutation_p.F374C|ATRNL1_ENST00000303745.7_Missense_Mutation_p.F116C NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1323 integral to membrane sugar binding p.F1323C(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CTGACTGTGTTTCTTTGTCTA 0.473000 30 59 0 0 0.013726 0 0 MASP2 10747 broad.mit.edu 37 1 11097837 11097837 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:11097837A>G ENST00000400897.3 - 7 936 c.921T>C c.(919-921)ccT>ccC p.P307P NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan-binding lectin serine peptidase 2 307 Sushi 1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity p.P307P(1) biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) CGTGGCCATTAGGTGGCGCCA 0.507000 OREG0013096 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 130 0 0 0.018920 0 0 TOP3A 7156 broad.mit.edu 37 17 18196135 18196135 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:18196135T>C ENST00000321105.5 - 11 1319 c.1105A>G c.(1105-1107)Att>Gtt p.I369V TOP3A_ENST00000540524.1_Intron|TOP3A_ENST00000542570.1_Missense_Mutation_p.I274V NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 369 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding p.I369V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 CTGGGAAAAATGTTTGTTTCT 0.483000 48 86 0 0 0.014410 0 0 DUXAP8 503637 broad.mit.edu 37 22 16151010 16151010 + RNA SNP T T C rs143820047 by1000genomes TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr22:16151010T>C ENST00000447898.1 - 0 1104 AGTTGTTCTCTGGAATCAATC 0.393000 4 16 0 0 0.014758 0 0 ACE2 59272 broad.mit.edu 37 X 15599440 15599440 + Missense_Mutation SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chrX:15599440T>G ENST00000427411.1 - 9 1190 c.974A>C c.(973-975)cAa>cCa p.Q325P ACE2_ENST00000252519.3_Missense_Mutation_p.Q325P NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 325 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding p.Q325P(1) endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) CCAGAATCCTTGAGTCATATT 0.478000 115 81 0 0 0.014410 0 0 CD27 939 broad.mit.edu 37 12 6554303 6554303 + Silent SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:6554303C>A ENST00000266557.3 + 1 271 c.42C>A c.(40-42)acC>acA p.T14T CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA NM_001242.4 NP_001233 P26842 CD27_HUMAN CD27 molecule 14 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity p.T14>?(1)|p.T14T(1) kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3) 10 TTCTGGGGACCCTGGTGGGGC 0.627000 10 23 0.000442599 0.000455306 0.006214 1 0 HNRNPDL 9987 broad.mit.edu 37 4 83347685 83347685 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:83347685C>T ENST00000295470.5 - 6 1298 c.1123G>A c.(1123-1125)Ggc>Agc p.G375S HNRNPDL_ENST00000502762.1_Missense_Mutation_p.G375S|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.G256S|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000349655.4_Intron NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like p.G375S(1) TCATATCCGCCATAGCCACTA 0.353000 26 75 0 0 0.009535 0 0 ABCC9 10060 broad.mit.edu 37 12 22028606 22028606 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:22028606C>G ENST00000261200.4 - 15 2073 c.2074G>C c.(2074-2076)Gat>Cat p.D692H ABCC9_ENST00000261201.4_Missense_Mutation_p.D692H|ABCC9_ENST00000345162.2_Missense_Mutation_p.D656H|RP11-729I10.2_ENST00000539874.1_RNA NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 692 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.D692H(2)|p.D692Y(1) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATTCGAATATCTATATTGGAT 0.308000 21 123 0 0 0.016522 0 0 COMP 1311 broad.mit.edu 37 19 18896789 18896789 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:18896789T>A ENST00000542601.2 - 12 1765 c.1376A>T c.(1375-1377)cAg>cTg p.Q459L COMP_ENST00000222271.2_Missense_Mutation_p.Q492L|COMP_ENST00000425807.1_Missense_Mutation_p.Q439L P49747 COMP_HUMAN cartilage oligomeric matrix protein 492 Missing (in PSACH; severe form). anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding p.Q492L(1) breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 CGCGTCCTCCTGGCCGGGGTT 0.711000 17 14 0 0 0.008871 0 0 OR51A2 401667 broad.mit.edu 37 11 4976305 4976305 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:4976305A>G ENST00000380371.1 - 1 638 c.639T>C c.(637-639)atT>atC p.I213I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I213I(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGCAATGAGAATAAAGTCTA 0.433000 14 16 0 0 0.007413 0 0 BCL10 8915 broad.mit.edu 37 1 85741980 85741980 + Splice_Site SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:85741980T>A ENST00000370580.1 - 1 793 c.56A>T c.(55-57)gAc>gTc p.D19V NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 19 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.D19V(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) GTTACTCACGTCCTTCTTCAC 0.682000 T IGH@ MALT 28 99 0 0 0.010818 0 0 FAM169A 26049 broad.mit.edu 37 5 74077398 74077398 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:74077398C>A ENST00000389156.4 - 13 1990 c.1900G>T c.(1900-1902)Gat>Tat p.D634Y FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.D574Y NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 634 p.D634Y(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 GAGCTGCTATCCACAGCTTTT 0.458000 59 204 1.27862e-28 1.39545e-28 0.014410 1 0 KEAP1 9817 broad.mit.edu 37 19 10597496 10597496 + Splice_Site SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:10597496T>C ENST00000171111.5 - 6 2256 c.e6-2 KEAP1_ENST00000393623.2_Splice_Site NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.?(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CATAGCCTCCTGCGGGAAGAA 0.567000 34 40 0 0 0.013726 0 0 LRIG3 121227 broad.mit.edu 37 12 59271541 59271541 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:59271541G>C ENST00000320743.3 - 15 2463 c.2177C>G c.(2176-2178)cCt>cGt p.P726R LRIG3_ENST00000379141.4_Missense_Mutation_p.P666R NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 726 Ig-like C2-type 3. integral to membrane p.P726R(1) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) GTTCAGTTTAGGGGGAGGGCT 0.488000 T ROS1 NSCLC 33 119 0 0 0.012213 0 0 NES 10763 broad.mit.edu 37 1 156639511 156639511 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:156639511T>C ENST00000368223.3 - 4 4601 c.4469A>G c.(4468-4470)cAg>cGg p.Q1490R NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1490 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity p.Q1490R(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGCACTGTCCTGGGACTCCGT 0.587000 20 81 0 0 0.007413 0 0 GTSE1 51512 broad.mit.edu 37 22 46704392 46704392 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr22:46704392C>T ENST00000454366.1 + 4 526 c.314C>T c.(313-315)gCt>gTt p.A105V NM_016426.6 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 86 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule p.A105V(1)|p.A86V(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) TACAAAGAAGCTCACTTACTG 0.567000 28 133 0 0 0.005443 0 0 NME4 4833 broad.mit.edu 37 16 449378 449378 + Splice_Site SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:449378G>A ENST00000397722.1 + 3 489 c.e3-1 NME4_ENST00000450036.1_Splice_Site|NME4_ENST00000382940.4_Splice_Site|NME4_ENST00000219479.2_Splice_Site O00746 NDKM_HUMAN NME/NM23 nucleoside diphosphate kinase 4 CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space ATP binding|metal ion binding|nucleoside diphosphate kinase activity p.?(1) NS(1)|lung(1)|stomach(1)|urinary_tract(1) 4 Hepatocellular(16;0.00015) ATGCCACCCAGGCACCAGAGA 0.607000 130 282 0 0 0.014410 0 0 CSF1R 1436 broad.mit.edu 37 5 149460456 149460456 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:149460456A>G ENST00000286301.3 - 3 472 c.181T>C c.(181-183)Tac>Cac p.Y61H CSF1R_ENST00000543093.1_Missense_Mutation_p.Y61H NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 61 Ig-like C2-type 1. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity p.Y61H(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CCATCAGAGTACAGGGTCCAG 0.612000 15 51 0 0 0.004007 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308488 140308488 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:140308488T>C ENST00000253807.2 + 1 2011 c.2011T>C c.(2011-2013)Tgg>Cgg p.W671R PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.W671R|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_018898.3 NP_061721.2 p.W671R(1) NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAGATGTCTGGGAACCAGG 0.483000 58 241 0 0 0.014410 0 0 ITPR2 3709 broad.mit.edu 37 12 26492374 26492374 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:26492374C>T ENST00000381340.3 - 57 8478 c.8062G>A c.(8062-8064)Gga>Aga p.G2688R RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2688 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.G2688R(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GTGTTTGATCCGAGGAAGCCC 0.502000 7 76 0 0 0.004482 0 0 UGT2A3 79799 broad.mit.edu 37 4 69817427 69817427 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:69817427C>T ENST00000251566.4 - 1 82 c.52G>A c.(52-54)Gtt>Att p.V18I NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 18 integral to membrane glucuronosyltransferase activity p.V18I(1) NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCACAGCCAACACAGAAGAGC 0.478000 18 65 0 0 0.013726 0 0 TMCO6 55374 broad.mit.edu 37 5 140024591 140024591 + Nonsense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:140024591C>T ENST00000394671.3 + 12 1491 c.1390C>T c.(1390-1392)Cag>Tag p.Q464* NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Nonsense_Mutation_p.Q470*|TMCO6_ENST00000537378.1_Nonsense_Mutation_p.Q224* NM_018502.3 NP_060972.3 Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 464 protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity p.Q464*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCCTGCAGCAGTCAGGGCT 0.542000 97 144 0 0 0.014410 0 0 NAA25 80018 broad.mit.edu 37 12 112499125 112499125 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:112499125G>A ENST00000261745.4 - 12 1465 c.1217C>T c.(1216-1218)gCt>gTt p.A406V NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 406 cytoplasm protein binding p.A406V(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TCTGATGTCAGCAGGCAGTGC 0.458000 33 36 0 0 0.019004 0 0 BAP1 8314 broad.mit.edu 37 3 52440379 52440379 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:52440379C>G ENST00000460680.1 - 9 1144 c.673G>C c.(673-675)Gac>Cac p.D225H BAP1_ENST00000296288.5_Intron NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 225 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.D225N(1)|p.D225H(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) AAGCGGATGTCGTGGTAGGGC 0.632000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 25 21 0 0 0.006320 0 0 XIRP2 129446 broad.mit.edu 37 2 168104737 168104737 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:168104737G>A ENST00000409195.1 + 9 6924 c.6835G>A c.(6835-6837)Gag>Aag p.E2279K XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2057K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2279K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2104 actin cytoskeleton organization cell junction actin binding p.E2279K(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTTTAACCCTGAGAATAATGT 0.413000 36 88 0 0 0.017118 0 0 BTNL2 56244 broad.mit.edu 37 6 32372796 32372796 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:32372796G>A ENST00000454136.3 - 2 351 c.347C>T c.(346-348)cCc>cTc p.P116L BTNL2_ENST00000374995.3_Missense_Mutation_p.P116L|BTNL2_ENST00000429232.2_Missense_Mutation_p.P116L|BTNL2_ENST00000374993.1_Missense_Mutation_p.P116L|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 116 Ig-like V-type 1. integral to membrane p.P116L(1) central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 ATTGTCGGAGGGCTGGATGTT 0.488000 36 179 0 0 0.021022 0 0 GNA14 9630 broad.mit.edu 37 9 80262686 80262686 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:80262686G>A ENST00000341700.6 - 1 537 c.24C>T c.(22-24)tcC>tcT p.S8S NM_004297.3 NP_004288.1 O95837 GNA14_HUMAN guanine nucleotide binding protein (G protein), alpha 14 8 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity p.S8S(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 TCTCCTCCGCGGACAGGCAGC 0.711000 9 14 0 0 0.008291 0 0 RAET1G 353091 broad.mit.edu 37 6 150240778 150240778 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:150240778C>A ENST00000367360.2 - 2 327 c.260G>T c.(259-261)tGg>tTg p.W87L RAET1G_ENST00000479265.1_Missense_Mutation_p.W87L NM_001001788.2 NP_001001788.2 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G 87 MHC class I alpha-1 like. antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding p.W87L(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1) 13 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) CTGTGCTTTCCAGGCCGTTGT 0.488000 125 181 3.36649e-63 3.75023e-63 0.014410 1 0 DNM3 26052 broad.mit.edu 37 1 172007570 172007570 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:172007570G>A ENST00000358155.4 + 7 1137 c.961G>A c.(961-963)Gac>Aac p.D321N DNM3_ENST00000355305.5_Missense_Mutation_p.D321N|DNM3_ENST00000520906.1_Missense_Mutation_p.D321N|DNM3_ENST00000367733.2_Missense_Mutation_p.D321N|DNM3_ENST00000367731.1_Missense_Mutation_p.D321N NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 321 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding p.D321N(1) NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CAAACCAGAAGACCCAACAAG 0.418000 90 78 0 0 0.014410 0 0 ZZEF1 23140 broad.mit.edu 37 17 3920781 3920781 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:3920781C>T ENST00000381638.2 - 48 8009 c.7885G>A c.(7885-7887)Gag>Aag p.E2629K NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2629 calcium ion binding|zinc ion binding p.E2629K(1) central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CTAGGCCACTCGGCGAGCAGG 0.577000 21 44 0 0 0.012213 0 0 SLC5A7 60482 broad.mit.edu 37 2 108604766 108604766 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:108604766T>C ENST00000264047.2 + 2 431 c.155T>C c.(154-156)tTg>tCg p.L52S SLC5A7_ENST00000409059.1_Missense_Mutation_p.L52S|SLC5A7_ENST00000540517.1_Intron NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 52 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.L52S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) ATTGGTTTATTGGTTGGTGGA 0.542000 30 76 0 0 0.012213 0 0 TRPC4 7223 broad.mit.edu 37 13 38320157 38320157 + Nonsense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr13:38320157G>A ENST00000379705.3 - 3 1671 c.814C>T c.(814-816)Cga>Tga p.R272* TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R272*|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R272* Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 272 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.R272*(2)|p.R272R(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTGTCATCTCGGTAATTAAGA 0.418000 109 281 0 0 0.014410 0 0 VRK3 51231 broad.mit.edu 37 19 50492998 50492998 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:50492998G>A ENST00000599538.1 - 11 1658 c.994C>T c.(994-996)Cgc>Tgc p.R332C VRK3_ENST00000377011.2_Missense_Mutation_p.R282C|VRK3_ENST00000601341.1_Missense_Mutation_p.R282C|VRK3_ENST00000593919.1_Missense_Mutation_p.R332C|VRK3_ENST00000316763.3_Missense_Mutation_p.R332C|VRK3_ENST00000594092.1_Missense_Mutation_p.R332C|VRK3_ENST00000443401.2_Missense_Mutation_p.R101C|VRK3_ENST00000601912.1_Missense_Mutation_p.R282C|VRK3_ENST00000594948.1_Missense_Mutation_p.R332C|VRK3_ENST00000424804.2_5'UTR Q8IV63 VRK3_HUMAN vaccinia related kinase 3 332 Protein kinase. nucleus ATP binding|protein kinase activity p.R332C(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) GGGCAATAGCGGAAGGCGAAG 0.552000 20 28 0 0 0.012319 0 0 BMX 660 broad.mit.edu 37 X 15574250 15574250 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chrX:15574250C>T ENST00000357607.2 + 19 2196 c.2008C>T c.(2008-2010)Cgg>Tgg p.R670W BMX_ENST00000342014.6_Missense_Mutation_p.R670W|BMX_ENST00000348343.6_Missense_Mutation_p.R670W P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 670 Protein kinase. R -> W (in a lung large cell carcinoma sample; somatic mutation). cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity p.R670W(3) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) TGAACCACTTCGGGAAAAAGA 0.383000 56 127 0 0 0.014410 0 0 MOS 4342 broad.mit.edu 37 8 57026488 57026488 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr8:57026488C>T ENST00000311923.1 - 1 53 c.54G>A c.(52-54)tcG>tcA p.S18S NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 18 ATP binding|protein binding|protein serine/threonine kinase activity p.S18S(1) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) GCGCGTCCACCGATGGGGAAA 0.697000 12 35 0 0 0.003163 0 0 EFCAB7 84455 broad.mit.edu 37 1 64027423 64027423 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:64027423T>C ENST00000371088.4 + 11 1638 c.1392T>C c.(1390-1392)ttT>ttC p.F464F EFCAB7_ENST00000461039.1_3'UTR NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 464 calcium ion binding p.F464F(1) breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 GACAAGGATTTATGGATTTGA 0.318000 5 53 0 0 0.001984 0 0 DNAJC13 23317 broad.mit.edu 37 3 132247081 132247081 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:132247081A>G ENST00000260818.6 + 54 6678 c.6430A>G c.(6430-6432)Att>Gtt p.I2144V NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 2144 heat shock protein binding p.I2144V(1) breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 ACTCGAAGGCATTGGCCTTGA 0.418000 33 78 0 0 0.009535 0 0 TRBV5-6 28609 broad.mit.edu 37 7 142131871 142131871 + RNA SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:142131871G>A ENST00000390375.2 - 0 47 AGGAGCCCGGGGCCCATGGCA 0.607000 48 70 0 0 0.014410 0 0 CBL 867 broad.mit.edu 37 11 119170369 119170369 + Nonsense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:119170369C>T ENST00000264033.4 + 16 2975 c.2599C>T c.(2599-2601)Cag>Tag p.Q867* NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 867 Interaction with CD2AP.|UBA. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.Q867*(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CCTCATGAGTCAGGGGTACTC 0.532000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 267 202 0 0 0.014410 0 0 FGGY 55277 broad.mit.edu 37 1 59787249 59787249 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:59787249A>T ENST00000371218.4 + 2 212 c.28A>T c.(28-30)Agg>Tgg p.R10W FGGY_ENST00000371212.1_Missense_Mutation_p.R10W|FGGY_ENST00000303721.7_Missense_Mutation_p.R10W|FGGY_ENST00000474476.1_Intron NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 10 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor p.R10W(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) GAAACCAGAGAGGTACTATGT 0.493000 7 24 0 0 0.006214 0 0 WWC2 80014 broad.mit.edu 37 4 184114848 184114848 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:184114848C>G ENST00000403733.3 + 2 427 c.228C>G c.(226-228)atC>atG p.I76M WWC2_ENST00000513834.1_Missense_Mutation_p.I76M|WWC2_ENST00000378925.3_5'UTR|WWC2_ENST00000448232.2_Missense_Mutation_p.I76M NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 76 WW 2. p.I76M(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) TCTACTACATCGATCACATCA 0.423000 16 38 0 0 0.004990 0 0 GP1BA 2811 broad.mit.edu 37 17 4836215 4836215 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:4836215C>A ENST00000329125.5 + 2 391 c.316C>A c.(316-318)Caa>Aaa p.Q106K NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 106 p.Q106K(1) central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 CAATCAGCTGCAAAGCCTGCC 0.612000 57 103 2.30037e-20 2.46059e-20 0.014410 1 0 HNRNPL 3191 broad.mit.edu 37 19 39329230 39329230 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:39329230T>C ENST00000221419.5 - 10 1730 c.1364A>G c.(1363-1365)aAg>aGg p.K455R AC104534.3_ENST00000594769.1_Missense_Mutation_p.S72G|HNRNPL_ENST00000600873.1_Missense_Mutation_p.K322R NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 455 RRM 3. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding p.K322R(1)|p.K455R(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GGCTGGCTGCTTGGAGACACT 0.542000 11 66 0 0 0.016723 0 0 KCNV2 169522 broad.mit.edu 37 9 2718088 2718088 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:2718088G>A ENST00000382082.3 + 1 587 c.349G>A c.(349-351)Ggc>Agc p.G117S NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 117 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) CGAGCTGGCCGGCTTCCCCAA 0.667000 4 19 0 0 0.009096 0 0 KPNB1 3837 broad.mit.edu 37 17 45750422 45750422 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:45750422A>G ENST00000290158.4 + 13 1993 c.1586A>G c.(1585-1587)tAt>tGt p.Y529C KPNB1_ENST00000540627.1_Missense_Mutation_p.Y384C|KPNB1_ENST00000535458.2_Missense_Mutation_p.Y384C|KPNB1_ENST00000537679.1_Missense_Mutation_p.Y313C NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 529 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding p.Y529C(1) breast(1)|ovary(1)|pancreas(1)|skin(1) 4 AGTTCTGCATATGAATCTCTG 0.423000 39 67 0 0 0.006230 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31962020 31962020 + Splice_Site SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr20:31962020T>G ENST00000357886.4 - 10 1303 c.e10-2 CDK5RAP1_ENST00000346416.2_Splice_Site|CDK5RAP1_ENST00000339269.5_Splice_Site|CDK5RAP1_ENST00000544843.1_Splice_Site|CDK5RAP1_ENST00000473997.1_Splice_Site|CDK5RAP1_ENST00000477105.1_Splice_Site Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity p.?(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 CTGCAGAACCTGATGAAACAG 0.463000 27 155 0 0 0.091800 0 0 MIPOL1 145282 broad.mit.edu 37 14 37838794 37838794 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr14:37838794C>G ENST00000327441.7 + 11 1367 c.901C>G c.(901-903)Ctg>Gtg p.L301V MIPOL1_ENST00000537471.1_Missense_Mutation_p.L301V|MIPOL1_ENST00000545536.1_Missense_Mutation_p.L270V|MIPOL1_ENST00000536774.1_Missense_Mutation_p.L120V|MIPOL1_ENST00000539062.2_Missense_Mutation_p.L270V|MIPOL1_ENST00000396294.2_Missense_Mutation_p.L301V|MIPOL1_ENST00000556451.1_Missense_Mutation_p.L270V NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 301 p.L301V(1)|p.L301>?(1) breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) CATGAGACATCTGACTGCTGA 0.463000 27 52 0 0 0.108266 0 0 KIAA1377 57562 broad.mit.edu 37 11 101833686 101833686 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr11:101833686A>T ENST00000263468.8 + 6 2190 c.1920A>T c.(1918-1920)gaA>gaT p.E640D KIAA1377_ENST00000537689.1_Missense_Mutation_p.E441D NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 640 protein binding p.E640D(1) breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GCAATATAGAAAACAATGCTG 0.348000 13 78 0 0 0.105934 0 0 CAP2 10486 broad.mit.edu 37 6 17539634 17539634 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr6:17539634T>C ENST00000229922.2 + 8 1303 c.771T>C c.(769-771)tcT>tcC p.S257S CAP2_ENST00000489374.1_Silent_p.S145S|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Silent_p.S193S|CAP2_ENST00000378990.2_Silent_p.S231S NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 257 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding p.S257S(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) AGGAATCTTCTCCTTCACGCT 0.522000 6 117 0 0 0.021553 0 0 PUSL1 126789 broad.mit.edu 37 1 1244883 1244883 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:1244883G>A ENST00000379031.5 + 4 450 c.373G>A c.(373-375)Gcc>Acc p.A125T PUSL1_ENST00000470520.1_3'UTR NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 125 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding p.A125T(1) lung(3)|skin(1)|urinary_tract(1) 5 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TCGTCACGCAGCCACGTCCCG 0.672000 4 21 0 0 0.014758 0 0 MYOZ2 51778 broad.mit.edu 37 4 120107259 120107259 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr4:120107259T>C ENST00000307128.5 + 6 912 c.699T>C c.(697-699)aaT>aaC p.N233N NM_016599.4 NP_057683.1 Q9NPC6 MYOZ2_HUMAN myozenin 2 233 protein phosphatase 2B binding p.N233N(1) endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 GGTCCTTTAATAGGACTCCTA 0.393000 22 72 0 0 0.069288 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88257814 88257814 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr9:88257814T>C ENST00000357081.3 - 13 1374 c.1230A>G c.(1228-1230)caA>caG p.Q410Q AGTPBP1_ENST00000376083.3_Silent_p.Q370Q|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Silent_p.Q248Q|AGTPBP1_ENST00000376109.3_Silent_p.Q422Q Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 410 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 p.Q370Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 GTCCCGGTTCTTGCTGGGGTT 0.294000 19 78 0 0 0.038395 0 0 ADAM23 8745 broad.mit.edu 37 2 207436497 207436497 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr2:207436497C>A ENST00000264377.3 + 17 1941 c.1613C>A c.(1612-1614)gCt>gAt p.A538D ADAM23_ENST00000374415.3_Missense_Mutation_p.A538D|ADAM23_ENST00000374416.1_Missense_Mutation_p.A538D NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 538 Disintegrin. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.A538D(2) NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TCCAACGGGGCTCACTGCAGC 0.443000 14 124 1.99824e-07 2.09385e-07 0.033300 1 0 VIPR1 7433 broad.mit.edu 37 3 42577695 42577695 + Silent SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr3:42577695G>T ENST00000433647.1 + 14 1797 c.1173G>T c.(1171-1173)acG>acT p.T391T VIPR1_ENST00000438259.2_Silent_p.T222T|VIPR1_ENST00000325123.4_Silent_p.T432T|VIPR1_ENST00000543411.1_Silent_p.T384T NM_001251882.1 NP_001238811.1 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 432 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity p.T432T(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) CGTGCAGCACGCAGGTTTCCA 0.692000 4 15 0.00909568 0.0092649 0.009096 1 0 NKRF 55922 broad.mit.edu 37 X 118723319 118723319 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chrX:118723319T>C ENST00000371527.1 - 2 2721 c.2069A>G c.(2068-2070)aAt>aGt p.N690S NKRF_ENST00000304449.5_Missense_Mutation_p.N690S|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.N705S NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 690 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding p.N690S(1)|p.N705S(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 AAGATCTCAATTTGCTTGAGG 0.383000 48 25 0 0 0.048971 0 0 SLC6A16 28968 broad.mit.edu 37 19 49797169 49797169 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:49797169G>A ENST00000454748.3 - 9 1734 c.1533C>T c.(1531-1533)agC>agT p.S511S SLC6A16_ENST00000335875.4_Silent_p.S511S Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 511 integral to membrane|intracellular neurotransmitter:sodium symporter activity p.S511S(1) NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) CTATTGCGCTGCTCAGCCCCA 0.483000 87 176 0 0 0.048971 0 0 ABCA13 154664 broad.mit.edu 37 7 48284188 48284188 + Nonsense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr7:48284188G>A ENST00000435803.1 + 11 1302 c.1278G>A c.(1276-1278)tgG>tgA p.W426* NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 426 transport integral to membrane ATP binding|ATPase activity p.W426*(1)|p.W371*(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AGCATCTGTGGAAATTGCAAA 0.393000 6 47 0 0 0.021553 0 0 MYOZ2 51778 broad.mit.edu 37 4 120107338 120107338 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr4:120107338G>C ENST00000307128.5 + 6 991 c.778G>C c.(778-780)Gaa>Caa p.E260Q NM_016599.4 NP_057683.1 Q9NPC6 MYOZ2_HUMAN myozenin 2 260 protein phosphatase 2B binding p.E260Q(1) endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 CACTGTACCAGAATCAGAAGA 0.383000 14 48 0 0 0.020292 0 0 ARID1B 57492 broad.mit.edu 37 6 157521944 157521944 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr6:157521944C>G ENST00000346085.5 + 18 4217 c.4216C>G c.(4216-4218)Cag>Gag p.Q1406E ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1388E|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1446E|ARID1B_ENST00000350026.5_Missense_Mutation_p.Q1393E NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1393 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.Q1406E(1)|p.Q1388E(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GATGTACAACCAGTATGGAGG 0.632000 20 108 0 0 0.055883 0 0 SCEL 8796 broad.mit.edu 37 13 78178541 78178541 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr13:78178541A>G ENST00000377246.3 + 18 1173 c.1088A>G c.(1087-1089)aAt>aGt p.N363S SCEL_ENST00000349847.3_Missense_Mutation_p.N383S|SCEL_ENST00000535157.1_Intron|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000469982.1_Intron|SCEL-AS1_ENST00000456280.2_RNA NM_003843.3 NP_003834.3 O95171 SCEL_HUMAN sciellin 383 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding p.N383S(1) breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) ACAAATAAAAATATTACGAGG 0.333000 83 182 0 0 0.048971 0 0 OR51A4 401666 broad.mit.edu 37 11 4967692 4967692 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr11:4967692A>G ENST00000380373.2 - 1 664 c.639T>C c.(637-639)atT>atC p.I213I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I213I(1) large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGCAATGAGAATAAAGTCTA 0.428000 18 79 0 0 0.091800 0 0 LAMA3 3909 broad.mit.edu 37 18 21437915 21437915 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr18:21437915G>A ENST00000313654.9 + 33 4485 c.4244G>A c.(4243-4245)gGa>gAa p.G1415E LAMA3_ENST00000399516.3_Missense_Mutation_p.G1415E NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1415 Domain III B.|Laminin EGF-like 12. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.G1415E(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTGAGCCAGGAGTGTGTGAC 0.562000 57 71 0 0 0.048971 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43545795 43545795 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr17:43545795G>C ENST00000430334.3 - 5 1221 c.1088C>G c.(1087-1089)gCa>gGa p.A363G PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A274G NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 363 intracellular signal transduction cytoplasm metal ion binding p.A363G(1) breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) TCCAGAGGCTGCCTGGGCAGG 0.642000 8 43 0 0 0.058154 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835714 12835714 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:12835714C>T ENST00000357726.4 + 2 343 c.316C>T c.(316-318)Cgg>Tgg p.R106W NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 106 p.R106W(1) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTTGGACTTGCGGAATGTGGA 0.512000 51 333 0 0 0.048971 0 0 FSIP1 161835 broad.mit.edu 37 15 39910371 39910371 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr15:39910371T>C ENST00000350221.3 - 11 1473 c.1264A>G c.(1264-1266)Atc>Gtc p.I422V NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 422 p.I422V(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) AGTTTAATGATGGATTTTTGT 0.368000 53 65 0 0 0.048971 0 0 NBEA 26960 broad.mit.edu 37 13 35923273 35923273 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr13:35923273A>G ENST00000540320.1 + 37 6466 c.5932A>G c.(5932-5934)Ata>Gta p.I1978V NBEA_ENST00000400445.3_Missense_Mutation_p.I1978V|NBEA_ENST00000379939.2_Missense_Mutation_p.I1975V|NBEA_ENST00000310336.4_Missense_Mutation_p.I1978V Q8NFP9 NBEA_HUMAN neurobeachin 1978 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding p.I1978V(1) NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GAAGGACCATATAGTCCGTGT 0.348000 10 51 0 0 0.080935 0 0 GPR133 283383 broad.mit.edu 37 12 131487771 131487771 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:131487771C>T ENST00000261654.5 + 10 1627 c.1068C>T c.(1066-1068)acC>acT p.T356T GPR133_ENST00000535015.1_Silent_p.T388T|GPR133_ENST00000376682.4_Silent_p.T42T NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 356 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.T356T(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CTATTGACACCGTCATGGGCC 0.602000 52 167 0 0 0.048971 0 0 PER1 5187 broad.mit.edu 37 17 8046123 8046123 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr17:8046123C>T ENST00000317276.4 - 20 3340 c.3103G>A c.(3103-3105)Gca>Aca p.A1035T PER1_ENST00000581082.1_Missense_Mutation_p.A1012T NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 1035 Ser-rich. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity p.A1035T(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCGGAAAGTGCGTCCTGATTG 0.647000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 8 26 0 0 0.047766 0 0 CD27 939 broad.mit.edu 37 12 6554304 6554304 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:6554304C>G ENST00000266557.3 + 1 272 c.43C>G c.(43-45)Ctg>Gtg p.L15V CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA NM_001242.4 NP_001233 P26842 CD27_HUMAN CD27 molecule 15 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity p.T14>?(1)|p.L15V(1) kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3) 10 TCTGGGGACCCTGGTGGGGCT 0.632000 10 22 0 0 0.058154 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54745612 54745612 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr8:54745612T>A ENST00000355221.3 - 3 707 c.148A>T c.(148-150)Att>Ttt p.I50F ATP6V1H_ENST00000520188.1_Missense_Mutation_p.I10F|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.I50F|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.I50F NM_213619.2 NP_998784.1 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H 50 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism p.I50F(1) endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) AACCTCTGAATAAACTCACAA 0.368000 79 77 0 0 0.048971 0 0 LST3 0 broad.mit.edu 37 12 21242857 21242857 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:21242857C>T ENST00000540229.1 + 16 2129 c.2064C>T c.(2062-2064)ggC>ggT p.G688G RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000381541.3_Silent_p.G627G|SLCO1B7_ENST00000554957.1_Silent_p.G627G|SLCO1B3_ENST00000553473.1_Silent_p.G688G|SLCO1B7_ENST00000421593.2_Silent_p.G580G p.G580G(1) CCTTCTTCGGCTTGAAGGTAG 0.299000 15 48 0 0 0.024245 0 0 NSD1 64324 broad.mit.edu 37 5 176562709 176562709 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr5:176562709G>A ENST00000439151.2 + 2 650 c.605G>A c.(604-606)gGt>gAt p.G202D NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.G202D|NSD1_ENST00000511258.1_Intron NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 202 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding p.G202D(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TCAGAGAATGGTGTAAAAGTG 0.468000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 58 100 0 0 0.048971 0 0 THSD7B 80731 broad.mit.edu 37 2 137814383 137814383 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr2:137814383G>A ENST00000409968.1 + 3 711 c.533G>A c.(532-534)cGg>cAg p.R178Q THSD7B_ENST00000413152.2_Missense_Mutation_p.R147Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R178Q|THSD7B_ENST00000543459.1_Missense_Mutation_p.R37Q thrombospondin, type I, domain containing 7B p.R147Q(1)|p.R178Q(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTTGTCCCCGGGATTGTGTA 0.498000 48 324 0 0 0.048971 0 0 CAPZB 832 broad.mit.edu 37 1 19670914 19670914 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:19670914T>C ENST00000401084.2 - 8 802 c.669A>G c.(667-669)aaA>aaG p.K223K CAPZB_ENST00000375142.1_Silent_p.K223K|CAPZB_ENST00000433834.1_Silent_p.K252K|CAPZB_ENST00000264202.6_Silent_p.K223K|CAPZB_ENST00000375144.1_Silent_p.K211K|CAPZB_ENST00000264203.3_Intron NM_001282162.1|NM_004930.3 NP_001269091.1|NP_004921.1 P47756 CAPZB_HUMAN capping protein (actin filament) muscle Z-line, beta 223 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement cytosol|F-actin capping protein complex|WASH complex actin binding p.K223K(1) endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) TACTTCTGATTTTATTTTCCA 0.517000 OREG0013171 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 112 0 0 0.050027 0 0 SLC5A8 160728 broad.mit.edu 37 12 101595946 101595946 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:101595946A>T ENST00000536262.2 - 3 1023 c.465T>A c.(463-465)aaT>aaA p.N155K NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 155 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity p.N155K(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATGTACCTTGATTCAAAGCCA 0.388000 29 47 0 0 0.050027 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281971 71281971 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr17:71281971G>A ENST00000335793.3 - 2 1063 c.669C>T c.(667-669)agC>agT p.S223S CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.S153S Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 223 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding p.S223S(1) cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) TGTCCATGATGCTGAGGACGT 0.657000 70 103 0 0 0.048971 0 0 ZNF317 57693 broad.mit.edu 37 19 9271247 9271247 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:9271247A>T ENST00000247956.6 + 7 1231 c.926A>T c.(925-927)gAt>gTt p.D309V ZNF317_ENST00000360385.3_Missense_Mutation_p.D277V NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D309V(1)|p.D309>?(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TACAAGTGTGATCAGTGCGGG 0.572000 39 78 0 0 0.111260 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205902 36205902 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:36205902A>C ENST00000392197.2 + 3 692 c.374A>C c.(373-375)aAg>aCg p.K125T ZBTB32_ENST00000262630.3_Missense_Mutation_p.K125T Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 125 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding p.K125T(1) large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCAGGCCTGAAGAAACATCAG 0.577000 20 88 0 0 0.043863 0 0 RERE 473 broad.mit.edu 37 1 8601355 8601355 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:8601355A>C ENST00000337907.3 - 8 1382 c.748T>G c.(748-750)Ttt>Gtt p.F250V RERE_ENST00000400907.2_Missense_Mutation_p.F250V|RERE_ENST00000400908.2_Missense_Mutation_p.F250V NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 250 BAH. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F250V(1) central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ATGTCAGAAAAATGGGAGATG 0.398000 60 64 0 0 0.048971 0 0 CTBP2 1488 broad.mit.edu 37 10 126727575 126727575 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr10:126727575T>A ENST00000337195.5 - 3 448 c.49A>T c.(49-51)Att>Ttt p.I17F CTBP2_ENST00000411419.2_Missense_Mutation_p.I17F|CTBP2_ENST00000494626.2_Missense_Mutation_p.I17F|CTBP2_ENST00000531469.1_Missense_Mutation_p.I17F|CTBP2_ENST00000476817.1_5'UTR NM_001329.2 NP_001320.1 P56545 CTBP2_HUMAN C-terminal binding protein 2 17 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding p.I17F(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCTTCACAAATTCTGTCCAAT 0.468000 20 96 0 0 0.055883 0 0 MYBPC3 4607 broad.mit.edu 37 11 47359095 47359095 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr11:47359095G>C ENST00000399249.2 - 24 2503 c.2449C>G c.(2449-2451)Cgg>Ggg p.R817G MYBPC3_ENST00000545968.1_Missense_Mutation_p.R817G|MYBPC3_ENST00000256993.4_Missense_Mutation_p.R816G Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 816 Fibronectin type-III 1. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding p.R817G(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CGCATCCACCGGTAGCTCTTC 0.607000 9 43 0 0 0.058154 0 0 TRPS1 7227 broad.mit.edu 37 8 116632282 116632282 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr8:116632282C>T ENST00000395715.3 - 3 620 c.43G>A c.(43-45)Gtc>Atc p.V15I TRPS1_ENST00000519076.1_Missense_Mutation_p.V2I|TRPS1_ENST00000519674.1_Missense_Mutation_p.V2I|TRPS1_ENST00000520276.1_Missense_Mutation_p.V6I|TRPS1_ENST00000220888.5_Missense_Mutation_p.V2I NM_001282902.1|NM_001282903.1|NM_014112.2 NP_001269831.1|NP_001269832.1|NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 2 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V15I(1)|p.V2I(1) autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTTTTCCGGACCATATCTGCA 0.408000 Langer-Giedion syndrome 14 87 0 0 0.020292 0 0 EIF3A 8661 broad.mit.edu 37 10 120801833 120801833 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr10:120801833G>A ENST00000369144.3 - 19 3326 c.3199C>T c.(3199-3201)Cgg>Tgg p.R1067W EIF3A_ENST00000541549.1_Missense_Mutation_p.R1033W NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1067 25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CTGGGACCCCGGTCATCATCA 0.632000 63 311 0 0 0.048971 0 0 DYSF 8291 broad.mit.edu 37 2 71795448 71795448 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr2:71795448G>T ENST00000258104.3 + 26 3067 c.2790G>T c.(2788-2790)tgG>tgT p.W930C DYSF_ENST00000394120.2_Missense_Mutation_p.W931C|DYSF_ENST00000409651.1_Missense_Mutation_p.W962C|DYSF_ENST00000409366.1_Missense_Mutation_p.W931C|DYSF_ENST00000409744.1_Missense_Mutation_p.W917C|DYSF_ENST00000409762.1_Missense_Mutation_p.W947C|DYSF_ENST00000410041.1_Missense_Mutation_p.W948C|DYSF_ENST00000413539.2_Missense_Mutation_p.W961C|DYSF_ENST00000429174.2_Missense_Mutation_p.W930C|DYSF_ENST00000409582.3_Missense_Mutation_p.W947C|DYSF_ENST00000410020.3_Missense_Mutation_p.W948C NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 930 W -> C (in LGMD2B; uncetain pathogenicity). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.W948C(1)|p.W930C(1) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CTGGAGATTGGTTCGTGTGTC 0.647000 234 486 2.56588e-125 2.85243e-125 0.048971 1 0 COL6A6 131873 broad.mit.edu 37 3 130292969 130292969 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr3:130292969C>A ENST00000358511.6 + 7 3178 c.3147C>A c.(3145-3147)caC>caA p.H1049Q COL6A6_ENST00000453409.2_Missense_Mutation_p.H1049Q NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1049 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen p.H1049Q(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 ATACCTATCACCCGGAGTTTC 0.433000 24 56 1.10513e-12 1.1692e-12 0.069288 1 0 ACO2 50 broad.mit.edu 37 22 41865168 41865168 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr22:41865168A>G ENST00000396512.3 + 1 35 c.18A>G c.(16-18)ctA>ctG p.L6L ACO2_ENST00000216254.4_Silent_p.L6L Q99798 ACON_HUMAN aconitase 2, mitochondrial 6 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity p.L6L(1) breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 CCTACAGCCTACTGGTGACTC 0.647000 22 108 0 0 0.083992 0 0 MGAT1 4245 broad.mit.edu 37 5 180219243 180219243 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr5:180219243G>T ENST00000446023.2 - 3 1479 c.729C>A c.(727-729)gaC>gaA p.D243E MGAT1_ENST00000333055.3_Missense_Mutation_p.D243E|MGAT1_ENST00000427865.2_Missense_Mutation_p.D243E|MGAT1_ENST00000307826.4_Missense_Mutation_p.D243E|MGAT1_ENST00000393340.3_Missense_Mutation_p.D243E NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 243 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding p.D243E(1) endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTTGCCGTTGTCATTCCAGG 0.642000 7 140 8.12818e-05 8.39657e-05 0.029380 1 0 FAM126A 84668 broad.mit.edu 37 7 22985595 22985595 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr7:22985595T>C ENST00000432176.2 - 11 1411 c.1179A>G c.(1177-1179)gaA>gaG p.E393E FAM126A_ENST00000409923.1_3'UTR NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 393 cytoplasm|membrane signal transducer activity p.E393E(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 TAGTTTCTTTTTCTTTTCCTC 0.418000 113 195 0 0 0.048971 0 0 GPX6 257202 broad.mit.edu 37 6 28474199 28474199 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr6:28474199A>C ENST00000361902.1 - 3 298 c.249T>G c.(247-249)aaT>aaG p.N83K GPX6_ENST00000474923.1_Missense_Mutation_p.N83K|GPX6_ENST00000483058.1_5'UTR NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 83 response to oxidative stress extracellular region glutathione peroxidase activity p.N83K(1) NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) CCTGTAGTGCATTCAGTTCTG 0.443000 20 119 0 0 0.062417 0 0 CEACAM6 4680 broad.mit.edu 37 19 42260767 42260767 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:42260767G>A ENST00000199764.6 + 2 542 c.324G>A c.(322-324)ctG>ctA p.L108L CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 108 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane p.L108L(1) breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CATCCCTGCTGATCCAGAACG 0.458000 166 382 0 0 0.048971 0 0 HOXB4 3214 broad.mit.edu 37 17 46654171 46654171 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr17:46654171C>A ENST00000332503.5 - 2 2460 c.669G>T c.(667-669)ttG>ttT p.L223F HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000476342.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Intron NM_024015.4 NP_076920.1 P17483 HXB4_HUMAN homeobox B4 223 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L223F(1) central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 TGGTGTTGGGCAACTTGTGGT 0.677000 66 121 9.65139e-37 1.05683e-36 0.048971 1 0 LRP10 26020 broad.mit.edu 37 14 23344694 23344694 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr14:23344694C>T ENST00000359591.4 + 5 1228 c.537C>T c.(535-537)ttC>ttT p.F179F LRP10_ENST00000546834.1_Silent_p.F179F NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 179 endocytosis coated pit|integral to membrane p.F179F(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) CAGACCCCTTCCCTGGCCTGA 0.582000 71 191 0 0 0.048971 0 0 ERCC2 2068 broad.mit.edu 37 19 45856352 45856352 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:45856352C>G ENST00000391945.4 - 19 1897 c.1820G>C c.(1819-1821)gGa>gCa p.G607A ERCC2_ENST00000391944.3_Missense_Mutation_p.G529A NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 607 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding p.G607A(1) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) AAAGTCGATTCCCTCGGACAC 0.642000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 43 109 0 0 0.048971 0 0 SIM1 6492 broad.mit.edu 37 6 100868688 100868688 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr6:100868688G>C ENST00000369208.3 - 10 1927 c.1145C>G c.(1144-1146)tCc>tGc p.S382C SIM1_ENST00000262901.4_Missense_Mutation_p.S382C P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 382 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.S382C(1)|p.S382*(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGAAGTCCTGGATTTTGACTT 0.473000 47 82 0 0 0.048971 0 0 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr4:153247289G>C ENST00000281708.4 - 10 2742 c.1513C>G c.(1513-1515)Cgc>Ggc p.R505G FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 21 107 0 0 0.055883 0 0 TPRA1 131601 broad.mit.edu 37 3 127294260 127294260 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr3:127294260G>A ENST00000355552.3 - 9 1135 c.759C>T c.(757-759)atC>atT p.I253I TPRA1_ENST00000465915.1_5'UTR|TPRA1_ENST00000489960.1_Silent_p.I253I|TPRA1_ENST00000296210.7_Intron|TPRA1_ENST00000450633.2_Silent_p.I253I NM_001136053.1 NP_001129525.1 Q86W33 TPRA1_HUMAN transmembrane protein, adipocyte asscociated 1 253 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity p.I253I(1) endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 GCCCCTCGATGATGTCGAAGC 0.682000 OREG0015772 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 22 0 0 0.038147 0 0 PNPT1 87178 broad.mit.edu 37 2 55895071 55895071 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr2:55895071T>C ENST00000447944.2 - 12 1085 c.999A>G c.(997-999)ccA>ccG p.P333P NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 333 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding p.P333P(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTATTTCATATGGATCGGCTT 0.274000 22 61 0 0 0.045705 0 0 ACD 65057 broad.mit.edu 37 16 67692470 67692470 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr16:67692470G>T ENST00000219251.8 - 9 1397 c.1066C>A c.(1066-1068)Ccc>Acc p.P356T ACD_ENST00000393919.4_Missense_Mutation_p.P359T NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 359 Ser-rich. intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding p.P356T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GAGGAACTGGGTGAGGAAGGA 0.617000 23 107 3.28513e-13 3.49244e-13 0.091800 1 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 95 0 0 0.069234 0 0 SELP 6403 broad.mit.edu 37 1 169578782 169578782 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:169578782A>G ENST00000263686.6 - 8 1330 c.1293T>C c.(1291-1293)gaT>gaC p.D431D SELP_ENST00000367794.2_Silent_p.D369D|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Silent_p.D369D|SELP_ENST00000458599.2_Silent_p.D369D|SELP_ENST00000367793.2_Silent_p.D369D|SELP_ENST00000367792.2_Silent_p.D369D|SELP_ENST00000367786.2_Silent_p.D369D NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 431 Sushi 4. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding p.D431D(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GTCCCAAGTTATCACACCGAA 0.488000 42 32 0 0 0.048971 0 0 INSC 387755 broad.mit.edu 37 11 15212291 15212291 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr11:15212291A>G ENST00000379554.3 + 6 811 c.765A>G c.(763-765)acA>acG p.T255T INSC_ENST00000528567.1_Silent_p.T208T|INSC_ENST00000530161.1_Silent_p.T208T|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Silent_p.T208T|INSC_ENST00000424273.1_Silent_p.T208T|INSC_ENST00000525218.1_Silent_p.T208T NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 255 cell differentiation|nervous system development cytoplasm binding p.T255T(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 TCTACACCACAGAGTCCACCA 0.507000 107 150 0 0 0.048971 0 0 ZDHHC11 79844 broad.mit.edu 37 5 837498 837498 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr5:837498C>T ENST00000283441.8 - 6 1265 c.882G>A c.(880-882)atG>atA p.M294I ZDHHC11_ENST00000424784.2_Missense_Mutation_p.M294I|ZDHHC11_ENST00000503758.2_5'UTR NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 294 integral to membrane acyltransferase activity|zinc ion binding p.M294I(2) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) CTCCTTTGTCCATTTGCACGT 0.483000 53 307 0 0 0.048971 0 0 POFUT1 23509 broad.mit.edu 37 20 30803206 30803206 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr20:30803206T>C ENST00000375749.3 + 3 443 c.381T>C c.(379-381)ttT>ttC p.F127F POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000375730.3_Silent_p.F127F NM_015352.1 NP_056167.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 127 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity p.F127F(2) breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CATACTGCTTTGAGGTGGCAG 0.602000 85 180 0 0 0.048971 0 0 ZNF813 126017 broad.mit.edu 37 19 53994029 53994029 + Silent SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:53994029T>G ENST00000396403.4 + 4 671 c.543T>G c.(541-543)tcT>tcG p.S181S ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S181S(1) large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AAAGAATTTCTTGTAGGCCCA 0.388000 44 248 0 0 0.042209 0 0 TYK2 7297 broad.mit.edu 37 19 10475635 10475635 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:10475635G>A ENST00000525621.1 - 8 1582 c.1101C>T c.(1099-1101)gaC>gaT p.D367D TYK2_ENST00000529370.1_Silent_p.D367D|TYK2_ENST00000264818.6_Silent_p.D367D|TYK2_ENST00000524462.1_Silent_p.D182D NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 367 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.D367D(1) breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CCCGCGGCCTGTCTGCCGGCT 0.617000 21 50 0 0 0.069288 0 0 OR2V2 285659 broad.mit.edu 37 5 180581946 180581946 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr5:180581946G>C ENST00000328275.1 + 1 4 c.4G>C c.(4-6)Gag>Cag p.E2Q NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E2Q(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGAGCCATGGAGACGTGGGT 0.493000 72 109 0 0 0.048971 0 0 ANKLE2 23141 broad.mit.edu 37 12 133327289 133327289 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:133327289T>C ENST00000539605.1 - 2 7285 c.601A>G c.(601-603)Acg>Gcg p.T201A ANKLE2_ENST00000357997.5_Missense_Mutation_p.T263A|ANKLE2_ENST00000337516.5_Missense_Mutation_p.T263A Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 263 cytoplasm|integral to membrane|nuclear envelope p.T263A(1) NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) GGTAAGGACGTTTTGCTTGGA 0.423000 46 40 0 0 0.048971 0 0 PRDM4 11108 broad.mit.edu 37 12 108140192 108140192 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:108140192A>G ENST00000228437.5 - 6 1595 c.1136T>C c.(1135-1137)cTg>cCg p.L379P RP11-864J10.4_ENST00000546714.1_RNA NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 379 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.L379P(1) biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 GCGGTCACACAGAGTACACCC 0.453000 3 104 0 0 0.014758 0 0 VAC14 55697 broad.mit.edu 37 16 70834774 70834774 + Silent SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr16:70834774G>T ENST00000261776.5 - 1 290 c.30C>A c.(28-30)ctC>ctA p.L10L NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 10 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity p.L10L(1) breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) TGTTAGGCGTGAGCGGCGCGA 0.667000 13 109 0.00244969 0.00250693 0.020292 1 0 CENPT 80152 broad.mit.edu 37 16 67863976 67863976 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr16:67863976G>A ENST00000562787.1 - 12 1426 c.878C>T c.(877-879)gCc>gTc p.A293V CENPT_ENST00000564817.1_Missense_Mutation_p.A293V|CENPT_ENST00000440851.2_Missense_Mutation_p.A293V|CENPT_ENST00000219172.3_Missense_Mutation_p.A293V NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 293 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding p.A293V(1) NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) CAGAAACTGGGCTGGTTTCCC 0.567000 32 36 0 0 0.041601 0 0 KAT6A 7994 broad.mit.edu 37 8 41794882 41794882 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr8:41794882T>C ENST00000396930.3 - 17 3787 c.3244A>G c.(3244-3246)Aga>Gga p.R1082G KAT6A_ENST00000406337.1_Missense_Mutation_p.R1082G|KAT6A_ENST00000265713.2_Missense_Mutation_p.R1082G NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1082 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding p.R1082G(1) AAGTATTCTCTAGGGAAAAGT 0.428000 43 59 0 0 0.104719 0 0 EVI2B 2124 broad.mit.edu 37 17 29631980 29631980 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr17:29631980C>G ENST00000330927.4 - 2 802 c.648G>C c.(646-648)ttG>ttC p.L216F NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.L231F|EVI2B_ENST00000577894.1_Missense_Mutation_p.L216F NM_006495.3 NP_006486.3 P34910 EVI2B_HUMAN ecotropic viral integration site 2B 216 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3)|p.L216F(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) TTATAGCTACCAACATAGAAG 0.343000 53 161 0 0 0.048971 0 0 KCNA4 3739 broad.mit.edu 37 11 30033503 30033503 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr11:30033503C>T ENST00000328224.6 - 2 1956 c.723G>A c.(721-723)ctG>ctA p.L241L NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 241 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.L241L(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CTGGCCTCTTCAGGCGGCCTC 0.498000 61 99 0 0 0.048971 0 0 CMTR2 55783 broad.mit.edu 37 16 71319027 71319027 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr16:71319027A>C ENST00000338099.5 - 3 1133 c.797T>G c.(796-798)cTt>cGt p.L266R CMTR2_ENST00000434935.2_Missense_Mutation_p.L266R cap methyltransferase 2 266 p.L266R(1) ACCGTTTCCAAGAGTGGTCAG 0.398000 29 60 0 0 0.037714 0 0 MYRIP 25924 broad.mit.edu 37 3 40192632 40192632 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr3:40192632C>T ENST00000302541.6 + 4 768 c.426C>T c.(424-426)taC>taT p.Y142Y MYRIP_ENST00000425621.1_Silent_p.Y142Y|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Silent_p.Y142Y|MYRIP_ENST00000539167.1_5'UTR|MYRIP_ENST00000396217.3_Intron NM_001284423.1|NM_001284426.1|NM_015460.2 NP_001271352.1|NP_001271355.1|NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 142 intracellular protein transport actin binding|zinc ion binding p.Y142Y(1)|p.Y142*(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) AGAACCTGTACAGGAAGCACC 0.552000 8 24 0 0 0.080935 0 0 ARMC3 219681 broad.mit.edu 37 10 23290965 23290965 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr10:23290965A>G ENST00000298032.5 + 12 1627 c.1543A>G c.(1543-1545)Aat>Gat p.N515D ARMC3_ENST00000409983.3_Missense_Mutation_p.N515D|ARMC3_ENST00000376528.4_Missense_Mutation_p.N252D|ARMC3_ENST00000409049.3_Missense_Mutation_p.N515D NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 515 binding p.N515D(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GCTGACGGCCAATGAATTATG 0.532000 13 23 0 0 0.020292 0 0 POLR3A 11128 broad.mit.edu 37 10 79769683 79769683 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr10:79769683G>A ENST00000372371.3 - 13 1846 c.1709C>T c.(1708-1710)tCa>tTa p.S570L NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 570 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding p.S570L(1) breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AACCAGTATTGAAGCAATGAT 0.453000 21 50 0 0 0.049695 0 0 TRAF5 7188 broad.mit.edu 37 1 211529792 211529792 + Silent SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:211529792T>A ENST00000336184.2 + 4 420 c.360T>A c.(358-360)gtT>gtA p.V120V TRAF5_ENST00000367004.3_Silent_p.V120V|TRAF5_ENST00000261464.5_Silent_p.V120V|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Silent_p.V120V NM_004619.3 NP_004610.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 120 V -> G (in dbSNP:rs3946808). apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding p.V120V(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) ATGCCAAGGTTATTCTGGGCC 0.378000 21 154 0 0 0.069288 0 0 PNPLA7 375775 broad.mit.edu 37 9 140444633 140444633 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr9:140444633T>C ENST00000406427.1 - 1 353 c.17A>G c.(16-18)gAt>gGt p.D6G PNPLA7_ENST00000277531.4_Missense_Mutation_p.D6G NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 6 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity p.D6G(1) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TGGGCTGTCATCTTTCTCTTC 0.547000 30 169 0 0 0.054565 0 0 PAH 5053 broad.mit.edu 37 12 103249082 103249082 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:103249082T>A ENST00000553106.1 - 6 1010 c.538A>T c.(538-540)Atg>Ttg p.M180L PAH_ENST00000307000.2_Missense_Mutation_p.M175L|PAH_ENST00000551988.1_5'UTR NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 180 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity p.M180L(1) endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TCTTCCTCCATGTATTCCACT 0.468000 13 85 0 0 0.024245 0 0 KIF12 113220 broad.mit.edu 37 9 116856478 116856478 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr9:116856478T>C ENST00000374118.3 - 10 1119 c.882A>G c.(880-882)ctA>ctG p.L294L KIF12_ENST00000473174.1_Intron NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 427 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.L294L(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 TCTCATTCTCTAGCATGAACT 0.627000 19 90 0 0 0.055883 0 0 IGF1R 3480 broad.mit.edu 37 15 99250976 99250976 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr15:99250976G>A ENST00000268035.6 + 2 891 c.280G>A c.(280-282)Gag>Aag p.E94K IGF1R_ENST00000558762.1_Missense_Mutation_p.E94K NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 94 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding p.E94K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GGCTGGCCTCGAGAGCCTCGG 0.577000 7 62 0 0 0.029380 0 0 PGM2 55276 broad.mit.edu 37 4 37850207 37850207 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr4:37850207G>A ENST00000381967.4 + 11 1447 c.1347G>A c.(1345-1347)gaG>gaA p.E449E PGM2_ENST00000537241.1_Silent_p.E289E NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 449 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity p.E449E(1) breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 TAAGTGCAGAGTTGGCTAGCT 0.408000 58 85 0 0 0.048971 0 0 GLI3 2737 broad.mit.edu 37 7 42004980 42004980 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr7:42004980G>T ENST00000395925.3 - 15 3775 c.3691C>A c.(3691-3693)Ctc>Atc p.L1231I GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1231 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L1231I(1) NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CTGTTGTGGAGCATCAAGTGC 0.632000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 41 94 1.41504e-22 1.51908e-22 0.042209 1 0 CTU1 90353 broad.mit.edu 37 19 51607330 51607330 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:51607330T>C ENST00000421832.2 - 2 541 c.497A>G c.(496-498)cAc>cGc p.H166R NM_145232.3 NP_660275.2 Q7Z7A3 CTU1_HUMAN cytosolic thiouridylase subunit 1 166 tRNA thio-modification|tRNA wobble uridine modification cytosol ATP binding|protein binding|transferase activity|tRNA binding p.H166R(1) large_intestine(2)|lung(1)|urinary_tract(1) 4 TGTCACGATGTGCGTGGCTCC 0.706000 10 12 0 0 0.105934 0 0 CUBN 8029 broad.mit.edu 37 10 16911845 16911845 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr10:16911845C>G ENST00000377833.4 - 59 9309 c.9244G>C c.(9244-9246)Gat>Cat p.D3082H NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3082 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.D3082H(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACATCAAAATCACTGAACCTG 0.413000 38 57 0 0 0.092188 0 0 SKIL 6498 broad.mit.edu 37 3 170079087 170079087 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr3:170079087C>T ENST00000458537.3 + 1 1677 c.968C>T c.(967-969)gCt>gTt p.A323V SKIL_ENST00000259119.4_Missense_Mutation_p.A323V|SKIL_ENST00000426052.2_Missense_Mutation_p.A303V|SKIL_ENST00000413427.2_Missense_Mutation_p.A323V NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 323 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 p.A323V(1) 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) TTTGAATCAGCTAAATGGCAT 0.398000 34 196 0 0 0.080422 0 0 COPB1 1315 broad.mit.edu 37 11 14490389 14490389 + Missense_Mutation SNP C C A rs139561241 byFrequency TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr11:14490389C>A ENST00000249923.3 - 16 2283 c.1983G>T c.(1981-1983)agG>agT p.R661S COPB1_ENST00000439561.2_Missense_Mutation_p.R661S NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 661 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity p.R661S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 CTGTCACATTCCTCTTTTCAG 0.378000 47 181 1.66251e-12 1.75043e-12 0.048971 1 0 SKIV2L2 23517 broad.mit.edu 37 5 54649078 54649078 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr5:54649078A>T ENST00000230640.5 + 14 1768 c.1514A>T c.(1513-1515)gAt>gTt p.D505V SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D404V NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 505 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.D505V(1) NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) CGCAAATTTGATGGGAAGGAT 0.333000 21 134 0 0 0.069288 0 0 SIM1 6492 broad.mit.edu 37 6 100868687 100868687 + Silent SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr6:100868687G>T ENST00000369208.3 - 10 1928 c.1146C>A c.(1144-1146)tcC>tcA p.S382S SIM1_ENST00000262901.4_Silent_p.S382S P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 382 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.S382S(1)|p.S382*(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGGAAGTCCTGGATTTTGACT 0.468000 47 84 3.21987e-24 3.47365e-24 0.048971 1 0 FJX1 24147 broad.mit.edu 37 11 35640856 35640856 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr11:35640856G>A ENST00000317811.4 + 1 1122 c.672G>A c.(670-672)caG>caA p.Q224Q NM_014344.3 NP_055159.2 Q86VR8 FJX1_HUMAN four jointed box 1 (Drosophila) 224 extracellular space lung(1)|urinary_tract(1) 2 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) AGTGGGCGCAGGTGCAGGAGG 0.731000 4 4 0 0 0.014758 0 0 ATM 472 broad.mit.edu 37 11 108218083 108218083 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr11:108218083A>T ENST00000278616.4 + 59 9047 c.8662A>T c.(8662-8664)Ata>Tta p.I2888L C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.I2888L|C11orf65_ENST00000526725.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2888 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.I2888L(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ACTTGTACATATAGATCTAGG 0.303000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 53 89 0 0 0.048971 0 0 TNFRSF9 3604 broad.mit.edu 37 1 7993258 7993258 + Missense_Mutation SNP G G A rs143524950 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:7993258G>A ENST00000377507.3 - 7 809 c.643C>T c.(643-645)Cgg>Tgg p.R215W NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 215 Interaction with LRR-1. induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity p.R215W(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) TTTCTGCCCCGTTTAACAACA 0.428000 34 43 0 0 0.059317 0 0 LENG8 114823 broad.mit.edu 37 19 54971986 54971986 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:54971986C>T ENST00000326764.5 + 16 2760 c.2281C>T c.(2281-2283)Ctg>Ttg p.L761L LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 0 protein binding p.L761L(1) breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GCAGGCCGAGCTGGCCTTCGA 0.711000 7 7 0 0 0.058154 0 0 C7orf55-LUC7L2 100996928 broad.mit.edu 37 7 139092032 139092032 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr7:139092032A>T ENST00000354926.4 + 6 977 c.623A>T c.(622-624)gAt>gTt p.D208V C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.D207V|LUC7L2_ENST00000541515.3_Missense_Mutation_p.D274V|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.D205V NM_001270643.1|NM_016019.4 NP_001257572.1|NP_057103.2 p.D208V(1) CGACTGGCTGATCATTTTGGG 0.398000 24 108 0 0 0.030593 0 0 NLRP14 338323 broad.mit.edu 37 11 7079645 7079645 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr11:7079645C>T ENST00000299481.4 + 8 2943 c.2597C>T c.(2596-2598)gCc>gTc p.A866V NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 866 cell differentiation|multicellular organismal development|spermatogenesis ATP binding p.A866V(1) breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATGAGTGATGCCCTGCAACAT 0.363000 49 58 0 0 0.048971 0 0 XPR1 9213 broad.mit.edu 37 1 180843064 180843064 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:180843064A>G ENST00000367590.4 + 13 1992 c.1794A>G c.(1792-1794)ccA>ccG p.P598P XPR1_ENST00000367589.3_Silent_p.P533P NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 598 EXS. integral to plasma membrane G-protein coupled receptor activity p.P598P(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 TCTTTGCCCCACTTGAGGTTT 0.363000 40 37 0 0 0.098360 0 0 HEATR6 63897 broad.mit.edu 37 17 58145064 58145064 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr17:58145064T>C ENST00000184956.6 - 8 985 c.969A>G c.(967-969)ccA>ccG p.P323P HEATR6_ENST00000585976.1_Silent_p.P323P NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 323 Poly-Lys. binding p.P323P(1) NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) GGATTTTCTTTGGTTTTACTT 0.413000 43 99 0 0 0.048971 0 0 XPOT 11260 broad.mit.edu 37 12 64815090 64815090 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:64815090A>G ENST00000332707.5 + 9 1448 c.919A>G c.(919-921)Agt>Ggt p.S307G NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 307 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.S307G(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) AGTTAGTTGGAGTAAATTAAT 0.373000 47 166 0 0 0.045515 0 0 SAMD11 148398 broad.mit.edu 37 1 871255 871255 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:871255G>A ENST00000342066.3 + 5 492 c.409G>A c.(409-411)Gag>Aag p.E137K NM_152486.2 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 137 nucleus p.E137K(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) AGGCAGCCTGGAGATTGGCCT 0.677000 32 33 0 0 0.054565 0 0 TNFRSF4 7293 broad.mit.edu 37 1 1148065 1148065 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:1148065T>C ENST00000379236.3 - 4 394 c.390A>G c.(388-390)ccA>ccG p.P130P TNFRSF4_ENST00000453580.1_5'UTR NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 130 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity p.P130P(1) large_intestine(1)|lung(2)|urinary_tract(1) 4 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;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGAAGTGCCCTGGAGGGCAGG 0.697000 8 9 0 0 0.069234 0 0 ZNF253 56242 broad.mit.edu 37 19 20003518 20003518 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:20003518C>G ENST00000589717.1 + 4 1554 c.1462C>G c.(1462-1464)Ctt>Gtt p.L488V ZNF253_ENST00000355650.4_Missense_Mutation_p.L412V|CTC-559E9.8_ENST00000585571.1_RNA NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 488 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L488V(1)|p.L460V(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGTGACAGATCTTTTAAATGT 0.358000 3 121 0 0 0.004672 0 0 C19orf54 284325 broad.mit.edu 37 19 41248527 41248527 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:41248527G>A ENST00000378313.2 - 6 986 c.867C>T c.(865-867)tcC>tcT p.S289S C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000598729.1_Silent_p.S117S|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000339153.3_Silent_p.S117S NM_198476.3 NP_940878.3 Q5BKX5 CS054_HUMAN chromosome 19 open reading frame 54 289 p.P148L(1)|p.S289S(1) breast(1)|lung(1)|urinary_tract(2) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TGCCCTGCTTGGACAGCAGGT 0.657000 10 34 0 0 0.069234 0 0 DLG5 9231 broad.mit.edu 37 10 79567584 79567584 + Missense_Mutation SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr10:79567584T>G ENST00000372391.2 - 25 4771 c.4766A>C c.(4765-4767)aAg>aCg p.K1589T DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.K1249T NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1589 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity p.K1589T(1) breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) AGGCAGGCCCTTGGCCTTCGT 0.572000 20 129 0 0 0.076483 0 0 SLC17A5 26503 broad.mit.edu 37 6 74331540 74331540 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr6:74331540A>G ENST00000355773.5 - 7 1233 c.965T>C c.(964-966)tTc>tCc p.F322S SLC17A5_ENST00000393019.3_3'UTR NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 322 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity p.F322S(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TTGAACATTGAACCTTAGGAT 0.313000 12 36 0 0 0.093190 0 0 ZNF534 147658 broad.mit.edu 37 19 52942411 52942411 + Silent SNP G G A rs113700997 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:52942411G>A ENST00000332323.6 + 4 1798 c.1737G>A c.(1735-1737)gcG>gcA p.A579A ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.A566A|ZNF534_ENST00000432303.2_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A579A(4) central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 CACACCTTGCGCGACATAGGA 0.443000 4 11 0 0 0.009096 0 0 CNOT2 4848 broad.mit.edu 37 12 70672040 70672040 + Nonsense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:70672040A>T ENST00000229195.3 + 2 613 c.34A>T c.(34-36)Aaa>Taa p.K12* CNOT2_ENST00000418359.3_Nonsense_Mutation_p.K12* NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 12 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity p.K12*(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) ATTATCTGAGAAAAGAAACTA 0.398000 38 105 0 0 0.086207 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 95 0 0 0.069234 0 0 BMP8B 656 broad.mit.edu 37 1 40228856 40228856 + Nonsense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:40228856G>A ENST00000372827.3 - 6 1342 c.967C>T c.(967-969)Caa>Taa p.Q323* PPIE_ENST00000356511.2_Intron|PPIE_ENST00000372830.1_Intron NM_001720.3 NP_001711.2 P34820 BMP8B_HUMAN bone morphogenetic protein 8b 323 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity p.Q323*(1) endometrium(1)|liver(1)|ovary(1)|urinary_tract(1) 4 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GAGTAGCCTTGGGGAGCGATG 0.622000 39 142 0 0 0.098360 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284382 33284382 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr6:33284382G>A ENST00000431845.2 - 2 463 c.312C>T c.(310-312)gcC>gcT p.A104A ZBTB22_ENST00000418724.1_Silent_p.A104A NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 104 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A104A(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CAGTCTCAAAGGCGCCTGGGT 0.577000 52 210 0 0 0.048971 0 0 SLC36A1 206358 broad.mit.edu 37 5 150844717 150844717 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr5:150844717G>A ENST00000243389.3 + 5 629 c.406G>A c.(406-408)Gca>Aca p.A136T SLC36A1_ENST00000520701.1_Missense_Mutation_p.A136T|SLC36A1_ENST00000429484.2_Missense_Mutation_p.A136T|SLC36A1_ENST00000521925.1_Missense_Mutation_p.A136T NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 136 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity p.A136T(2) endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) CCGGAACCACGCACACTGGGG 0.522000 31 84 0 0 0.069456 0 0 IGHG2 3501 broad.mit.edu 37 14 106110214 106110214 + RNA SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr14:106110214G>T ENST00000390545.2 - 0 403 GACCTCAGGGGTCCGGGAGAT 0.602000 58 60 6.4685e-43 7.1186e-43 0.048971 1 0 C5orf42 65250 broad.mit.edu 37 5 37183002 37183002 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr5:37183002C>T ENST00000274258.7 - 26 5511 c.1924G>A c.(1924-1926)Gat>Aat p.D642N C5orf42_ENST00000508244.1_Missense_Mutation_p.D1761N|C5orf42_ENST00000425232.2_Missense_Mutation_p.D1761N E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1761 p.D1761N(1)|p.D642N(1) breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ATACCAGAATCACAGAGTAGC 0.413000 44 74 0 0 0.045515 0 0 TTN 7273 broad.mit.edu 37 2 179616127 179616127 + Missense_Mutation SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr2:179616127T>G ENST00000360870.5 - 46 11222 c.11000A>C c.(10999-11001)aAa>aCa p.K3667T TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9512 Ig-like 22. 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) GTAATCTGTTTTCTTGGCAGA 0.363000 50 106 0 0 0.048971 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39909602 39909602 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:39909602C>T ENST00000425673.1 + 11 1547 c.1222C>T c.(1222-1224)Cgc>Tgc p.R408C PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R408C|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R408C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R408C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R349C Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 408 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity p.R408C(1)|p.R366C(1)|p.R349C(1) breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CTGTCTCCAGCGCCTCTTCTT 0.612000 86 180 0 0 0.048971 0 0 C16orf54 283897 broad.mit.edu 37 16 29756070 29756070 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr16:29756070C>T ENST00000329410.3 - 2 298 c.203G>A c.(202-204)cGt>cAt p.R68H NM_175900.3 NP_787096.2 Q6UWD8 CP054_HUMAN chromosome 16 open reading frame 54 68 integral to membrane p.R68H(1) breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1) 6 GGTGGGTGCACGGTGGCTGGG 0.677000 4 3 0 0 0.009096 0 0 EP300 2033 broad.mit.edu 37 22 41489057 41489057 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr22:41489057A>G ENST00000263253.7 + 1 1268 c.49A>G c.(49-51)Aaa>Gaa p.K17E NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 17 Interaction with ALX1. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.K17E(1) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CAAGCGGCCTAAACTCTCATC 0.552000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 75 132 0 0 0.048971 0 0 CPT1B 1375 broad.mit.edu 37 22 51007850 51007850 + Splice_Site SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr22:51007850T>A ENST00000360719.2 - 19 2373 c.2236A>T c.(2236-2238)Aac>Tac p.N746Y CPT1B_ENST00000312108.7_Splice_Site_p.N746Y|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Splice_Site_p.N665Y|CPT1B_ENST00000395650.2_Splice_Site_p.N746Y|CPT1B_ENST00000457250.1_Splice_Site_p.N712Y|CPT1B_ENST00000434492.2_Splice_Site_p.N541Y|CPT1B_ENST00000405237.3_Splice_Site_p.N746Y NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 746 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity p.N746Y(1) central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) CGCTGGGCGTTCTGTGGGAGC 0.537000 21 98 0 0 0.049695 0 0 CUBN 8029 broad.mit.edu 37 10 16911660 16911660 + Nonsense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr10:16911660C>T ENST00000377833.4 - 59 9494 c.9429G>A c.(9427-9429)tgG>tgA p.W3143* NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3143 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.W3143*(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAGACATCTTCCAGCCTTTTG 0.448000 149 201 0 0 0.048971 0 0 ZNF133 7692 broad.mit.edu 37 20 18295856 18295856 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr20:18295856G>T ENST00000377671.3 + 7 917 c.358G>T c.(358-360)Gat>Tat p.D120Y ZNF133_ENST00000396026.3_Missense_Mutation_p.D124Y|ZNF133_ENST00000535822.1_Missense_Mutation_p.D26Y|ZNF133_ENST00000401790.1_Missense_Mutation_p.D121Y|ZNF133_ENST00000402618.2_Missense_Mutation_p.D58Y|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000538547.1_Missense_Mutation_p.D26Y|ZNF133_ENST00000316358.4_Missense_Mutation_p.D121Y NM_001083330.2|NM_003434.4 NP_001076799.1|NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 121 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D120Y(1) autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 CCAGCCTGGGGATCCGGGCCC 0.562000 79 185 3.47267e-51 3.84099e-51 0.048971 1 0 ZNF106 64397 broad.mit.edu 37 15 42731243 42731243 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr15:42731243C>T ENST00000263805.4 - 8 4789 c.4463G>A c.(4462-4464)gGc>gAc p.G1488D ZNF106_ENST00000565380.1_Missense_Mutation_p.G716D|ZNF106_ENST00000565611.1_Missense_Mutation_p.G673D NM_001284306.1|NM_001284307.1|NM_022473.1 NP_001271235.1|NP_001271236.1|NP_071918.1 zinc finger protein 106 p.G1488D(1) TACAGGGATGCCATCTTTATA 0.358000 4 152 0 0 0.009096 0 0 CDK11B 984 broad.mit.edu 37 1 1572863 1572863 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:1572863C>A ENST00000407249.3 - 15 1485 c.1486G>T c.(1486-1488)Ggc>Tgc p.G496C CDK11B_ENST00000341832.6_Missense_Mutation_p.G449C|CDK11B_ENST00000340677.5_Missense_Mutation_p.G483C|CDK11B_ENST00000317673.7_Missense_Mutation_p.G494C P21127 CD11B_HUMAN cyclin-dependent kinase 11B 506 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding p.G496C(1) endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 ATGTTGCTGCCCACCACAATC 0.602000 5 44 3.59834e-05 3.73477e-05 0.021553 1 0 CPNE1 8904 broad.mit.edu 37 20 34214192 34214192 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr20:34214192T>C ENST00000317619.3 - 18 1979 c.1585A>G c.(1585-1587)Aag>Gag p.K529E CPNE1_ENST00000397446.1_Missense_Mutation_p.K529E|CPNE1_ENST00000317677.5_Missense_Mutation_p.K534E|CPNE1_ENST00000397442.1_Missense_Mutation_p.K473E|CPNE1_ENST00000352393.4_Missense_Mutation_p.K529E|CPNE1_ENST00000397443.1_Missense_Mutation_p.K529E|CPNE1_ENST00000397445.1_Missense_Mutation_p.K529E Q99829 CPNE1_HUMAN copine I 529 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity p.K529E(1) breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) GCAGGATCCTTGGCTGAGGGT 0.627000 88 207 0 0 0.048971 0 0 MIPOL1 145282 broad.mit.edu 37 14 37838795 37838795 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr14:37838795T>A ENST00000327441.7 + 11 1368 c.902T>A c.(901-903)cTg>cAg p.L301Q MIPOL1_ENST00000537471.1_Missense_Mutation_p.L301Q|MIPOL1_ENST00000545536.1_Missense_Mutation_p.L270Q|MIPOL1_ENST00000536774.1_Missense_Mutation_p.L120Q|MIPOL1_ENST00000539062.2_Missense_Mutation_p.L270Q|MIPOL1_ENST00000396294.2_Missense_Mutation_p.L301Q|MIPOL1_ENST00000556451.1_Missense_Mutation_p.L270Q NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 301 p.L301>?(1)|p.L301Q(1) breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) ATGAGACATCTGACTGCTGAA 0.463000 28 50 0 0 0.030593 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962362 69962362 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr4:69962362A>G ENST00000305231.7 + 1 170 c.124A>G c.(124-126)Atc>Gtc p.I42V UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.I42V NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 42 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.I42V(1) autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TATAAAGACAATCCTGGATGA 0.418000 64 141 0 0 0.048971 0 0 PAN2 9924 broad.mit.edu 37 12 56720613 56720613 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:56720613A>G ENST00000425394.2 - 7 1426 c.1050T>C c.(1048-1050)tcT>tcC p.S350S PAN2_ENST00000257931.5_Silent_p.S350S|PAN2_ENST00000440411.3_Silent_p.S350S|PAN2_ENST00000548043.1_Silent_p.S350S NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 350 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity p.S350S(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CACAGCCCTCAGAATCCCCAA 0.557000 165 205 0 0 0.048971 0 0 ZNF317 57693 broad.mit.edu 37 19 9271246 9271246 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:9271246G>T ENST00000247956.6 + 7 1230 c.925G>T c.(925-927)Gat>Tat p.D309Y ZNF317_ENST00000360385.3_Missense_Mutation_p.D277Y NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D309>?(1)|p.D309Y(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TTACAAGTGTGATCAGTGCGG 0.577000 38 77 1.00001e-27 1.08417e-27 0.111260 1 0 EFCAB5 374786 broad.mit.edu 37 17 28405458 28405458 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr17:28405458C>G ENST00000394835.3 + 15 3155 c.2963C>G c.(2962-2964)gCt>gGt p.A988G EFCAB5_ENST00000320856.5_Missense_Mutation_p.A864G|EFCAB5_ENST00000394832.2_Intron NM_198529.3 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 988 calcium ion binding p.A988G(1) breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 ATCCAATGTGCTGCAGAGACA 0.473000 22 54 0 0 0.055883 0 0 SLC4A8 9498 broad.mit.edu 37 12 51856143 51856143 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:51856143C>T ENST00000453097.2 + 10 1368 c.1151C>T c.(1150-1152)gCg>gTg p.A384V SLC4A8_ENST00000358657.3_Missense_Mutation_p.A411V|SLC4A8_ENST00000514353.3_Missense_Mutation_p.A331V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.A331V|SLC4A8_ENST00000535225.2_Missense_Mutation_p.A331V NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 384 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity p.A384V(2)|p.A331V(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) GATCTCCTGGCGGGGATTGAT 0.458000 33 142 0 0 0.054565 0 0 MOV10 4343 broad.mit.edu 37 1 113217556 113217556 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:113217556C>G ENST00000413052.2 + 2 412 c.22C>G c.(22-24)Cgg>Ggg p.R8G MOV10_ENST00000369645.1_Missense_Mutation_p.R8G|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000544796.1_Missense_Mutation_p.R8G|MOV10_ENST00000357443.2_Missense_Mutation_p.R8G|MOV10_ENST00000369644.1_5'UTR NM_001130079.1|NM_020963.3 NP_001123551.1|NP_066014.1 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 8 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding p.R8G(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GTTCAGCTGCCGGCAGCTCCG 0.637000 20 69 0 0 0.030593 0 0 SYCE1 93426 broad.mit.edu 37 10 135369108 135369108 + Silent SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr10:135369108G>T ENST00000368517.3 - 11 853 c.715C>A c.(715-717)Cgg>Agg p.R239R SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Silent_p.R275R|SYCE1_ENST00000432597.2_Silent_p.R239R NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 275 cell division central element p.R275R(1)|p.R239R(1) breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CACCTctgccgcttctgctgc 0.587000 9 22 2.17888e-05 2.27226e-05 0.058154 1 0 ICOSLG 23308 broad.mit.edu 37 21 45651249 45651249 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr21:45651249A>C ENST00000407780.3 - 5 903 c.776T>G c.(775-777)aTc>aGc p.I259S ICOSLG_ENST00000344330.4_Missense_Mutation_p.I259S|ICOSLG_ENST00000400379.3_Missense_Mutation_p.I259S|ICOSLG_ENST00000400377.3_Missense_Mutation_p.I142S NM_001283052.1 NP_001269981.1 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand 259 B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding p.I259S(1) endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) GACAGCCAGGATGCTCCACGT 0.562000 25 45 0 0 0.041601 0 0 COL22A1 169044 broad.mit.edu 37 8 139620181 139620181 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr8:139620181G>A ENST00000303045.6 - 57 4476 c.4030C>T c.(4030-4032)Cct>Tct p.P1344S COL22A1_ENST00000435777.1_Missense_Mutation_p.P1324S|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1344 Collagen-like 13.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.P1344S(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GAACTCACAGGGGTTCCTGAA 0.532000 HNSCC(7;0.00092) 27 68 0 0 0.030593 0 0 DENND4C 55667 broad.mit.edu 37 9 19296129 19296129 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr9:19296129A>G ENST00000380432.2 + 2 250 c.217A>G c.(217-219)Aca>Gca p.T73A DENND4C_ENST00000434457.2_Missense_Mutation_p.T309A|DENND4C_ENST00000602925.1_Missense_Mutation_p.T309A Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 73 DENN. integral to membrane p.T73A(1) breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 ATCCATCAATACAAACAAATG 0.393000 87 169 0 0 0.048971 0 0 PKP4 8502 broad.mit.edu 37 2 159519804 159519804 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr2:159519804C>T ENST00000389757.3 + 15 2549 c.2424C>T c.(2422-2424)atC>atT p.I808I PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.I808I NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 808 cell adhesion desmosome protein binding p.I808I(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 TTGGTCCTATCCCAGGACTGT 0.483000 HNSCC(62;0.18) 21 54 0 0 0.062417 0 0 OGDH 4967 broad.mit.edu 37 7 44736651 44736651 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr7:44736651G>A ENST00000222673.5 + 15 2081 c.2039G>A c.(2038-2040)cGg>cAg p.R680Q OGDH_ENST00000449767.1_Missense_Mutation_p.R676Q|OGDH_ENST00000543843.1_Missense_Mutation_p.R631Q|OGDH_ENST00000439616.2_Missense_Mutation_p.R530Q|OGDH_ENST00000444676.1_Missense_Mutation_p.R695Q|OGDH_ENST00000447398.1_Missense_Mutation_p.R691Q NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 680 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R680Q(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GACGTGGAGCGGGGCACATTC 0.557000 17 108 0 0 0.043863 0 0 INPP5A 3632 broad.mit.edu 37 10 134579295 134579295 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr10:134579295G>C ENST00000368594.3 + 12 1199 c.922G>C c.(922-924)Gag>Cag p.E308Q INPP5A_ENST00000368593.3_Missense_Mutation_p.E308Q NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 308 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding p.E308Q(2) cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) GTTTGACAAGGAGTTGTCTGT 0.502000 25 84 0 0 0.030593 0 0 ATRNL1 26033 broad.mit.edu 37 10 117607452 117607452 + Missense_Mutation SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr10:117607452T>G ENST00000355044.3 + 28 4094 c.3968T>G c.(3967-3969)tTt>tGt p.F1323C ATRNL1_ENST00000423111.2_Missense_Mutation_p.F374C|ATRNL1_ENST00000303745.7_Missense_Mutation_p.F116C NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1323 integral to membrane sugar binding p.F1323C(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CTGACTGTGTTTCTTTGTCTA 0.473000 30 59 0 0 0.054565 0 0 MASP2 10747 broad.mit.edu 37 1 11097837 11097837 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:11097837A>G ENST00000400897.3 - 7 936 c.921T>C c.(919-921)ccT>ccC p.P307P NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan-binding lectin serine peptidase 2 307 Sushi 1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity p.P307P(1) biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) CGTGGCCATTAGGTGGCGCCA 0.507000 OREG0013096 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 130 0 0 0.083992 0 0 TOP3A 7156 broad.mit.edu 37 17 18196135 18196135 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr17:18196135T>C ENST00000321105.5 - 11 1319 c.1105A>G c.(1105-1107)Att>Gtt p.I369V TOP3A_ENST00000540524.1_Intron|TOP3A_ENST00000542570.1_Missense_Mutation_p.I274V NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 369 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding p.I369V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 CTGGGAAAAATGTTTGTTTCT 0.483000 48 86 0 0 0.048971 0 0 DUXAP8 503637 broad.mit.edu 37 22 16151010 16151010 + RNA SNP T T C rs143820047 by1000genomes TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr22:16151010T>C ENST00000447898.1 - 0 1104 AGTTGTTCTCTGGAATCAATC 0.393000 4 16 0 0 0.014758 0 0 ACE2 59272 broad.mit.edu 37 X 15599440 15599440 + Missense_Mutation SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chrX:15599440T>G ENST00000427411.1 - 9 1190 c.974A>C c.(973-975)cAa>cCa p.Q325P ACE2_ENST00000252519.3_Missense_Mutation_p.Q325P NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 325 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding p.Q325P(1) endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) CCAGAATCCTTGAGTCATATT 0.478000 115 81 0 0 0.048971 0 0 CD27 939 broad.mit.edu 37 12 6554303 6554303 + Silent SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:6554303C>A ENST00000266557.3 + 1 271 c.42C>A c.(40-42)acC>acA p.T14T CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA NM_001242.4 NP_001233 P26842 CD27_HUMAN CD27 molecule 14 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity p.T14>?(1)|p.T14T(1) kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3) 10 TTCTGGGGACCCTGGTGGGGC 0.627000 10 23 0.000442599 0.000455067 0.058154 1 0 HNRNPDL 9987 broad.mit.edu 37 4 83347685 83347685 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr4:83347685C>T ENST00000295470.5 - 6 1298 c.1123G>A c.(1123-1125)Ggc>Agc p.G375S HNRNPDL_ENST00000602300.1_Missense_Mutation_p.G256S|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.G375S|HNRNPDL_ENST00000349655.4_Intron NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like p.G375S(1) TCATATCCGCCATAGCCACTA 0.353000 26 75 0 0 0.041601 0 0 ABCC9 10060 broad.mit.edu 37 12 22028606 22028606 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:22028606C>G ENST00000261200.4 - 15 2073 c.2074G>C c.(2074-2076)Gat>Cat p.D692H ABCC9_ENST00000345162.2_Missense_Mutation_p.D656H|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.D692H NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 692 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.D692H(2)|p.D692Y(1) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATTCGAATATCTATATTGGAT 0.308000 21 123 0 0 0.076483 0 0 COMP 1311 broad.mit.edu 37 19 18896789 18896789 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:18896789T>A ENST00000542601.2 - 12 1765 c.1376A>T c.(1375-1377)cAg>cTg p.Q459L COMP_ENST00000425807.1_Missense_Mutation_p.Q439L|COMP_ENST00000222271.2_Missense_Mutation_p.Q492L P49747 COMP_HUMAN cartilage oligomeric matrix protein 492 Missing (in PSACH; severe form). anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding p.Q492L(1) breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 CGCGTCCTCCTGGCCGGGGTT 0.711000 17 14 0 0 0.049695 0 0 OR51A2 401667 broad.mit.edu 37 11 4976305 4976305 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr11:4976305A>G ENST00000380371.1 - 1 638 c.639T>C c.(637-639)atT>atC p.I213I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I213I(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGCAATGAGAATAAAGTCTA 0.433000 14 16 0 0 0.043863 0 0 BCL10 8915 broad.mit.edu 37 1 85741980 85741980 + Splice_Site SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:85741980T>A ENST00000370580.1 - 1 793 c.56A>T c.(55-57)gAc>gTc p.D19V NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 19 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.D19V(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) GTTACTCACGTCCTTCTTCAC 0.682000 T IGH@ MALT 28 99 0 0 0.045705 0 0 FAM169A 26049 broad.mit.edu 37 5 74077398 74077398 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr5:74077398C>A ENST00000389156.4 - 13 1990 c.1900G>T c.(1900-1902)Gat>Tat p.D634Y FAM169A_ENST00000510496.1_Missense_Mutation_p.D574Y|FAM169A_ENST00000380515.3_3'UTR NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 634 p.D634Y(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 GAGCTGCTATCCACAGCTTTT 0.458000 59 204 1.27862e-28 1.39312e-28 0.048971 1 0 KEAP1 9817 broad.mit.edu 37 19 10597496 10597496 + Splice_Site SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:10597496T>C ENST00000171111.5 - 6 2256 c.e6-2 KEAP1_ENST00000393623.2_Splice_Site NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.?(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CATAGCCTCCTGCGGGAAGAA 0.567000 34 40 0 0 0.054565 0 0 LRIG3 121227 broad.mit.edu 37 12 59271541 59271541 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:59271541G>C ENST00000320743.3 - 15 2463 c.2177C>G c.(2176-2178)cCt>cGt p.P726R LRIG3_ENST00000379141.4_Missense_Mutation_p.P666R NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 726 Ig-like C2-type 3. integral to membrane p.P726R(1) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) GTTCAGTTTAGGGGGAGGGCT 0.488000 T ROS1 NSCLC 33 119 0 0 0.050027 0 0 NES 10763 broad.mit.edu 37 1 156639511 156639511 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:156639511T>C ENST00000368223.3 - 4 4601 c.4469A>G c.(4468-4470)cAg>cGg p.Q1490R NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1490 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity p.Q1490R(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGCACTGTCCTGGGACTCCGT 0.587000 20 81 0 0 0.043863 0 0 GTSE1 51512 broad.mit.edu 37 22 46704392 46704392 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr22:46704392C>T ENST00000454366.1 + 4 526 c.314C>T c.(313-315)gCt>gTt p.A105V NM_016426.6 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 86 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule p.A105V(1)|p.A86V(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) TACAAAGAAGCTCACTTACTG 0.567000 28 133 0 0 0.108266 0 0 NME4 4833 broad.mit.edu 37 16 449378 449378 + Splice_Site SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr16:449378G>A ENST00000397722.1 + 3 489 c.e3-1 NME4_ENST00000450036.1_Splice_Site|NME4_ENST00000382940.4_Splice_Site|NME4_ENST00000219479.2_Splice_Site O00746 NDKM_HUMAN NME/NM23 nucleoside diphosphate kinase 4 CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space ATP binding|metal ion binding|nucleoside diphosphate kinase activity p.?(1) NS(1)|lung(1)|stomach(1)|urinary_tract(1) 4 Hepatocellular(16;0.00015) ATGCCACCCAGGCACCAGAGA 0.607000 130 282 0 0 0.048971 0 0 CSF1R 1436 broad.mit.edu 37 5 149460456 149460456 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr5:149460456A>G ENST00000286301.3 - 3 472 c.181T>C c.(181-183)Tac>Cac p.Y61H CSF1R_ENST00000543093.1_Missense_Mutation_p.Y61H NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 61 Ig-like C2-type 1. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity p.Y61H(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CCATCAGAGTACAGGGTCCAG 0.612000 15 51 0 0 0.028581 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308488 140308488 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr5:140308488T>C ENST00000253807.2 + 1 2011 c.2011T>C c.(2011-2013)Tgg>Cgg p.W671R PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.W671R|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018898.3 NP_061721.2 p.W671R(1) NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAGATGTCTGGGAACCAGG 0.483000 58 241 0 0 0.048971 0 0 ITPR2 3709 broad.mit.edu 37 12 26492374 26492374 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:26492374C>T ENST00000381340.3 - 57 8478 c.8062G>A c.(8062-8064)Gga>Aga p.G2688R RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2688 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.G2688R(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GTGTTTGATCCGAGGAAGCCC 0.502000 7 76 0 0 0.047766 0 0 UGT2A3 79799 broad.mit.edu 37 4 69817427 69817427 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr4:69817427C>T ENST00000251566.4 - 1 82 c.52G>A c.(52-54)Gtt>Att p.V18I NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 18 integral to membrane glucuronosyltransferase activity p.V18I(1) NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCACAGCCAACACAGAAGAGC 0.478000 18 65 0 0 0.054565 0 0 TMCO6 55374 broad.mit.edu 37 5 140024591 140024591 + Nonsense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr5:140024591C>T ENST00000394671.3 + 12 1491 c.1390C>T c.(1390-1392)Cag>Tag p.Q464* NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Nonsense_Mutation_p.Q224*|TMCO6_ENST00000252100.6_Nonsense_Mutation_p.Q470* NM_018502.3 NP_060972.3 Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 464 protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity p.Q464*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCCTGCAGCAGTCAGGGCT 0.542000 97 144 0 0 0.048971 0 0 NAA25 80018 broad.mit.edu 37 12 112499125 112499125 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:112499125G>A ENST00000261745.4 - 12 1465 c.1217C>T c.(1216-1218)gCt>gTt p.A406V NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 406 cytoplasm protein binding p.A406V(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TCTGATGTCAGCAGGCAGTGC 0.458000 33 36 0 0 0.069456 0 0 BAP1 8314 broad.mit.edu 37 3 52440379 52440379 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr3:52440379C>G ENST00000460680.1 - 9 1144 c.673G>C c.(673-675)Gac>Cac p.D225H BAP1_ENST00000296288.5_Intron NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 225 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.D225N(1)|p.D225H(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) AAGCGGATGTCGTGGTAGGGC 0.632000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 25 21 0 0 0.030593 0 0 XIRP2 129446 broad.mit.edu 37 2 168104737 168104737 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr2:168104737G>A ENST00000409195.1 + 9 6924 c.6835G>A c.(6835-6837)Gag>Aag p.E2279K XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2057K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2279K|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2104 actin cytoskeleton organization cell junction actin binding p.E2279K(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTTTAACCCTGAGAATAATGT 0.413000 36 88 0 0 0.064281 0 0 BTNL2 56244 broad.mit.edu 37 6 32372796 32372796 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr6:32372796G>A ENST00000454136.3 - 2 351 c.347C>T c.(346-348)cCc>cTc p.P116L BTNL2_ENST00000429232.2_Missense_Mutation_p.P116L|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.P116L|BTNL2_ENST00000374995.3_Missense_Mutation_p.P116L Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 116 Ig-like V-type 1. integral to membrane p.P116L(1) central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 ATTGTCGGAGGGCTGGATGTT 0.488000 36 179 0 0 0.074837 0 0 GNA14 9630 broad.mit.edu 37 9 80262686 80262686 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr9:80262686G>A ENST00000341700.6 - 1 537 c.24C>T c.(22-24)tcC>tcT p.S8S NM_004297.3 NP_004288.1 O95837 GNA14_HUMAN guanine nucleotide binding protein (G protein), alpha 14 8 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity p.S8S(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 TCTCCTCCGCGGACAGGCAGC 0.711000 9 14 0 0 0.069234 0 0 DNM3 26052 broad.mit.edu 37 1 172007570 172007570 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:172007570G>A ENST00000358155.4 + 7 1137 c.961G>A c.(961-963)Gac>Aac p.D321N DNM3_ENST00000367733.2_Missense_Mutation_p.D321N|DNM3_ENST00000355305.5_Missense_Mutation_p.D321N|DNM3_ENST00000520906.1_Missense_Mutation_p.D321N|DNM3_ENST00000367731.1_Missense_Mutation_p.D321N NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 321 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding p.D321N(1) NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CAAACCAGAAGACCCAACAAG 0.418000 90 78 0 0 0.048971 0 0 ZZEF1 23140 broad.mit.edu 37 17 3920781 3920781 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr17:3920781C>T ENST00000381638.2 - 48 8009 c.7885G>A c.(7885-7887)Gag>Aag p.E2629K NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2629 calcium ion binding|zinc ion binding p.E2629K(1) central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CTAGGCCACTCGGCGAGCAGG 0.577000 21 44 0 0 0.050027 0 0 LETM1 3954 broad.mit.edu 37 4 1824768 1824768 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr4:1824768C>T ENST00000302787.2 - 9 1719 c.1423G>A c.(1423-1425)Gcc>Acc p.A475T NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 475 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) TGCTGGATGGCCGCCTCCTCC 0.652000 14 106 0 0 0.105934 0 0 SLC5A7 60482 broad.mit.edu 37 2 108604766 108604766 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr2:108604766T>C ENST00000264047.2 + 2 431 c.155T>C c.(154-156)tTg>tCg p.L52S SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.L52S NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 52 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.L52S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) ATTGGTTTATTGGTTGGTGGA 0.542000 30 76 0 0 0.050027 0 0 TRPC4 7223 broad.mit.edu 37 13 38320157 38320157 + Nonsense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr13:38320157G>A ENST00000379705.3 - 3 1671 c.814C>T c.(814-816)Cga>Tga p.R272* TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R272*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R272*|TRPC4_ENST00000379679.1_Intron Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 272 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.R272*(2)|p.R272R(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTGTCATCTCGGTAATTAAGA 0.418000 109 281 0 0 0.048971 0 0 VRK3 51231 broad.mit.edu 37 19 50492998 50492998 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:50492998G>A ENST00000599538.1 - 11 1658 c.994C>T c.(994-996)Cgc>Tgc p.R332C VRK3_ENST00000601912.1_Missense_Mutation_p.R282C|VRK3_ENST00000594948.1_Missense_Mutation_p.R332C|VRK3_ENST00000601341.1_Missense_Mutation_p.R282C|VRK3_ENST00000316763.3_Missense_Mutation_p.R332C|VRK3_ENST00000594092.1_Missense_Mutation_p.R332C|VRK3_ENST00000377011.2_Missense_Mutation_p.R282C|VRK3_ENST00000593919.1_Missense_Mutation_p.R332C|VRK3_ENST00000443401.2_Missense_Mutation_p.R101C|VRK3_ENST00000424804.2_5'UTR Q8IV63 VRK3_HUMAN vaccinia related kinase 3 332 Protein kinase. nucleus ATP binding|protein kinase activity p.R332C(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) GGGCAATAGCGGAAGGCGAAG 0.552000 20 28 0 0 0.062417 0 0 BMX 660 broad.mit.edu 37 X 15574250 15574250 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chrX:15574250C>T ENST00000357607.2 + 19 2196 c.2008C>T c.(2008-2010)Cgg>Tgg p.R670W BMX_ENST00000348343.6_Missense_Mutation_p.R670W|BMX_ENST00000342014.6_Missense_Mutation_p.R670W P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 670 Protein kinase. R -> W (in a lung large cell carcinoma sample; somatic mutation). cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity p.R670W(3) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) TGAACCACTTCGGGAAAAAGA 0.383000 56 127 0 0 0.048971 0 0 MOS 4342 broad.mit.edu 37 8 57026488 57026488 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr8:57026488C>T ENST00000311923.1 - 1 53 c.54G>A c.(52-54)tcG>tcA p.S18S NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 18 ATP binding|protein binding|protein serine/threonine kinase activity p.S18S(1) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) GCGCGTCCACCGATGGGGAAA 0.697000 12 35 0 0 0.024245 0 0 EFCAB7 84455 broad.mit.edu 37 1 64027423 64027423 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:64027423T>C ENST00000371088.4 + 11 1638 c.1392T>C c.(1390-1392)ttT>ttC p.F464F EFCAB7_ENST00000461039.1_3'UTR NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 464 calcium ion binding p.F464F(1) breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 GACAAGGATTTATGGATTTGA 0.318000 5 53 0 0 0.029380 0 0 DNAJC13 23317 broad.mit.edu 37 3 132247081 132247081 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr3:132247081A>G ENST00000260818.6 + 54 6678 c.6430A>G c.(6430-6432)Att>Gtt p.I2144V NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 2144 heat shock protein binding p.I2144V(1) breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 ACTCGAAGGCATTGGCCTTGA 0.418000 33 78 0 0 0.041601 0 0 TRBV5-6 28609 broad.mit.edu 37 7 142131871 142131871 + RNA SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr7:142131871G>A ENST00000390375.2 - 0 47 AGGAGCCCGGGGCCCATGGCA 0.607000 48 70 0 0 0.048971 0 0 CBL 867 broad.mit.edu 37 11 119170369 119170369 + Nonsense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr11:119170369C>T ENST00000264033.4 + 16 2975 c.2599C>T c.(2599-2601)Cag>Tag p.Q867* NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 867 Interaction with CD2AP.|UBA. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.Q867*(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CCTCATGAGTCAGGGGTACTC 0.532000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 267 202 0 0 0.048971 0 0 FGGY 55277 broad.mit.edu 37 1 59787249 59787249 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:59787249A>T ENST00000371218.4 + 2 212 c.28A>T c.(28-30)Agg>Tgg p.R10W FGGY_ENST00000371212.1_Missense_Mutation_p.R10W|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000303721.7_Missense_Mutation_p.R10W NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 10 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor p.R10W(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) GAAACCAGAGAGGTACTATGT 0.493000 7 24 0 0 0.058154 0 0 WWC2 80014 broad.mit.edu 37 4 184114848 184114848 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr4:184114848C>G ENST00000403733.3 + 2 427 c.228C>G c.(226-228)atC>atG p.I76M WWC2_ENST00000513834.1_Missense_Mutation_p.I76M|WWC2_ENST00000378925.3_5'UTR|WWC2_ENST00000448232.2_Missense_Mutation_p.I76M NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 76 WW 2. p.I76M(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) TCTACTACATCGATCACATCA 0.423000 16 38 0 0 0.033300 0 0 GP1BA 2811 broad.mit.edu 37 17 4836215 4836215 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr17:4836215C>A ENST00000329125.5 + 2 391 c.316C>A c.(316-318)Caa>Aaa p.Q106K NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 106 p.Q106K(1) central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 CAATCAGCTGCAAAGCCTGCC 0.612000 57 103 2.30037e-20 2.45747e-20 0.048971 1 0 HNRNPL 3191 broad.mit.edu 37 19 39329230 39329230 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr19:39329230T>C ENST00000221419.5 - 10 1730 c.1364A>G c.(1363-1365)aAg>aGg p.K455R AC104534.3_ENST00000594769.1_Missense_Mutation_p.S72G|HNRNPL_ENST00000600873.1_Missense_Mutation_p.K322R NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 455 RRM 3. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding p.K322R(1)|p.K455R(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GGCTGGCTGCTTGGAGACACT 0.542000 11 66 0 0 0.105934 0 0 KCNV2 169522 broad.mit.edu 37 9 2718088 2718088 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr9:2718088G>A ENST00000382082.3 + 1 587 c.349G>A c.(349-351)Ggc>Agc p.G117S NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 117 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) CGAGCTGGCCGGCTTCCCCAA 0.667000 4 19 0 0 0.009096 0 0 KPNB1 3837 broad.mit.edu 37 17 45750422 45750422 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr17:45750422A>G ENST00000290158.4 + 13 1993 c.1586A>G c.(1585-1587)tAt>tGt p.Y529C KPNB1_ENST00000537679.1_Missense_Mutation_p.Y313C|KPNB1_ENST00000540627.1_Missense_Mutation_p.Y384C|KPNB1_ENST00000535458.2_Missense_Mutation_p.Y384C NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 529 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding p.Y529C(1) breast(1)|ovary(1)|pancreas(1)|skin(1) 4 AGTTCTGCATATGAATCTCTG 0.423000 39 67 0 0 0.086207 0 0 EXOSC10 5394 broad.mit.edu 37 1 11141199 11141200 + Frame_Shift_Ins INS - - C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:11141199_11141200insC ENST00000544779.1 - 11 1381_1382 c.1376_1377insG c.(1375-1377)ggcfs p.G459fs EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.G459fs|EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000376936.4_Frame_Shift_Ins_p.G459fs Q01780 EXOSX_HUMAN exosome component 10 459 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) GCTGCCCGTTGCCGCGCTCCCA 0.604 20 102 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 5 3 --- --- --- --- XPR1 9213 broad.mit.edu 37 1 180843056 180843056 + Frame_Shift_Del DEL T T - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:180843056delT ENST00000367590.4 + 13 1984 c.1786delT c.(1786-1788)tttfs p.F596fs XPR1_ENST00000367589.3_Frame_Shift_Del_p.F531fs NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 596 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 TGCTACTGTCTTTGCCCCACT 0.368 39 51 --- --- --- --- ELF3 1999 broad.mit.edu 37 1 201982385 201982389 + Frame_Shift_Del DEL AAGAG AAGAG - rs137861501 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:201982385_201982389delAAGAG ENST00000359651.3 + 6 3956_3960 c.764_768delAAGAG c.(763-768)aaagagfs p.KE255fs ELF3_ENST00000367283.3_Frame_Shift_Del_p.KE255fs|ELF3_ENST00000367284.5_Frame_Shift_Del_p.KE255fs|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 255 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 AAGCTGAGCAAAGAGTACTGGGACT 0.644 66 71 --- --- --- --- LINC01317 104355287 broad.mit.edu 37 2 34041837 34041838 + RNA INS - - CCTCC rs140516377 by1000genomes TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:34041837_34041838insCCTCC ENST00000366209.2 + 0 68 tcttctcttctcctcccctccc 0.480 2 4 --- --- --- --- PNPT1 87178 broad.mit.edu 37 2 55895089 55895089 + Frame_Shift_Del DEL T T - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:55895089delT ENST00000447944.2 - 12 1067 c.981delA c.(979-981)aaafs p.K327fs NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 327 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CTTCTGGAAATTTTTCTATAG 0.284 19 65 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60173938 60173939 + RNA INS - - TG rs72158163 by1000genomes TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:60173938_60173939insTG ENST00000606382.1 - 0 110 TTGTGTTTGATtgtgtgtgtgt 0.450 2 4 --- --- --- --- LAMA2 3908 broad.mit.edu 37 6 129498972 129498972 + Frame_Shift_Del DEL C C - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:129498972delC ENST00000421865.2 + 10 1477 c.1428delC c.(1426-1428)agcfs p.S476fs NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 476 Laminin EGF-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGTTAGGGAGCAAAAATGAGG 0.478 37 83 --- --- --- --- PMS2P4 5382 broad.mit.edu 37 7 66762433 66762433 + RNA DEL A A - rs68053451 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:66762433delA ENST00000414507.1 - 0 184 tctcaaaaagaaaaaaaaaaa 0.408 2 4 --- --- --- --- CPA2 1358 broad.mit.edu 37 7 129919306 129919318 + Frame_Shift_Del DEL CTGGAGCCAGCAG CTGGAGCCAGCAG - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:129919306_129919318delCTGGAGCCAGCAG ENST00000222481.4 + 9 846_858 c.791_803delCTGGAGCCAGCAG c.(790-804)cctggagccagcagcfs p.PGASS264fs NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 264 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) TCCCCAGGACCTGGAGCCAGCAGCAACCCTTGC 0.502 7 84 --- --- --- --- IMPAD1 54928 broad.mit.edu 37 8 57905985 57906000 + Frame_Shift_Del DEL CCGCGGGCCCCGCCGC CCGCGGGCCCCGCCGC - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr8:57905985_57906000delCCGCGGGCCCCGCCGC ENST00000262644.4 - 1 403_418 c.145_160delGCGGCGGGGCCCGCGG c.(145-162)gcggcggggcccgcggccfs p.AAGPAA49fs NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 49 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding p.A53A(1) kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) TcggccgcggccgcgggccccgccgcgccgccgccA 0.745 5 9 --- --- --- --- RALGDS 5900 broad.mit.edu 37 9 135977871 135977872 + Frame_Shift_Ins INS - - CGCT TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:135977871_135977872insCGCT ENST00000393160.3 - 14 2188_2189 c.1835_1836insAGCG c.(1834-1836)cgcfs p.-612fs RALGDS_ENST00000372062.3_Frame_Shift_Ins_p.-638fs|RALGDS_ENST00000372050.3_Frame_Shift_Ins_p.-667fs|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Frame_Shift_Ins_p.-655fs|RALGDS_ENST00000393157.3_Frame_Shift_Ins_p.-666fs|RALGDS_ENST00000542690.1_Frame_Shift_Ins_p.-738fs NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) ACTCGCTCCAGCGCTTGACAAT 0.629 T CIITA """PMBL, Hodgkin Lymphona, """ 19 154 --- --- --- --- BBS10 79738 broad.mit.edu 37 12 76742124 76742126 + In_Frame_Del DEL CAT CAT - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:76742124_76742126delCAT ENST00000393262.3 - 1 96_98 c.13_15delATG c.(13-15)atgdel p.M5del NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 5 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 CTGCAGCGGCCATAGAACTTAAC 0.611 Bardet-Biedl syndrome OREG0022001 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 18 --- --- --- --- TPTE2P6 374491 broad.mit.edu 37 13 25169014 25169015 + RNA INS - - TAG TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr13:25169014_25169015insTAG ENST00000453498.1 + 0 1173 TPTE2P6_ENST00000440905.1_RNA actgactggaaagagagttagg 0.470 11 13 --- --- --- --- CDADC1 81602 broad.mit.edu 37 13 49833659 49833660 + Splice_Site INS - - GTAA TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr13:49833659_49833660insGTAA ENST00000251108.6 + 4 543 c.430_430insGTAA c.(430-432)gct>GTAAgct p.A144fs CDADC1_ENST00000444959.1_Intron|CDADC1_ENST00000538056.1_Splice_Site_p.G144fs NM_001193478.1|NM_030911.3 NP_001180407.1|NP_112173.1 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 144 hydrolase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 16 Lung NSC(96;0.000705)|Breast(56;0.0011)|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;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) GATTGTAAATGGTAAGTGCAGA 0.426 16 155 --- --- --- --- PMFBP1 83449 broad.mit.edu 37 16 72205093 72205101 + Splice_Site DEL TACCTCATC TACCTCATC - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:72205093_72205101delTACCTCATC ENST00000537465.1 - 2 165_171 c.7_13delGATGAGGTA c.(7-15)gatgaggta>ta p.DEV3del PMFBP1_ENST00000237353.10_Splice_Site_p.DEV3del|PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000355636.6_5'UTR Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 3 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTAGGAGCCTTACCTCATCTTTCATTTCC 0.330 14 179 --- --- --- --- LAMA3 3909 broad.mit.edu 37 18 21437864 21437877 + Frame_Shift_Del DEL GCTTTCCTGAGTGT GCTTTCCTGAGTGT - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr18:21437864_21437877delGCTTTCCTGAGTGT ENST00000313654.9 + 33 4434_4447 c.4193_4206delGCTTTCCTGAGTGT c.(4192-4206)cgctttcctgagtgtfs p.RFPEC1398fs LAMA3_ENST00000399516.3_Frame_Shift_Del_p.RFPEC1398fs NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1398 Domain III B.|Laminin EGF-like 11. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGTTTTACCGCTTTCCTGAGTGTGTTCCCTGCA 0.519 53 105 --- --- --- --- ME2 4200 broad.mit.edu 37 18 48450474 48450480 + Frame_Shift_Del DEL AAAGCAA AAAGCAA - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr18:48450474_48450480delAAAGCAA ENST00000321341.5 + 11 1335_1341 c.1063_1069delAAAGCAA c.(1063-1071)aaagcaaaafs p.KAK355fs ME2_ENST00000382927.3_Frame_Shift_Del_p.KAK355fs NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 355 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) TTAGGGACGGAAAGCAAAAATAGATAG 0.314 38 60 --- --- --- --- EXOSC10 5394 broad.mit.edu 37 1 11141199 11141200 + Frame_Shift_Ins INS - - C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:11141199_11141200insC ENST00000544779.1 - 11 1381_1382 c.1376_1377insG c.(1375-1377)ggcfs p.G459fs EXOSC10_ENST00000376936.4_Frame_Shift_Ins_p.G459fs|EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.G459fs Q01780 EXOSX_HUMAN exosome component 10 459 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) GCTGCCCGTTGCCGCGCTCCCA 0.604 20 102 --- --- --- --- XPR1 9213 broad.mit.edu 37 1 180843056 180843056 + Frame_Shift_Del DEL T T - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:180843056delT ENST00000367590.4 + 13 1984 c.1786delT c.(1786-1788)tttfs p.F596fs XPR1_ENST00000367589.3_Frame_Shift_Del_p.F531fs NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 596 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 TGCTACTGTCTTTGCCCCACT 0.368 39 51 --- --- --- --- ELF3 1999 broad.mit.edu 37 1 201982385 201982389 + Frame_Shift_Del DEL AAGAG AAGAG - rs137861501 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr1:201982385_201982389delAAGAG ENST00000359651.3 + 6 3956_3960 c.764_768delAAGAG c.(763-768)aaagagfs p.KE255fs ELF3_ENST00000367284.5_Frame_Shift_Del_p.KE255fs|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Del_p.KE255fs P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 255 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 AAGCTGAGCAAAGAGTACTGGGACT 0.644 66 71 --- --- --- --- PNPT1 87178 broad.mit.edu 37 2 55895089 55895089 + Frame_Shift_Del DEL T T - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr2:55895089delT ENST00000447944.2 - 12 1067 c.981delA c.(979-981)aaafs p.K327fs NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 327 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CTTCTGGAAATTTTTCTATAG 0.284 19 65 --- --- --- --- LAMA2 3908 broad.mit.edu 37 6 129498972 129498972 + Frame_Shift_Del DEL C C - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr6:129498972delC ENST00000421865.2 + 10 1477 c.1428delC c.(1426-1428)agcfs p.S476fs NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 476 Laminin EGF-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGTTAGGGAGCAAAAATGAGG 0.478 37 83 --- --- --- --- CPA2 1358 broad.mit.edu 37 7 129919306 129919318 + Frame_Shift_Del DEL CTGGAGCCAGCAG CTGGAGCCAGCAG - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr7:129919306_129919318delCTGGAGCCAGCAG ENST00000222481.4 + 9 846_858 c.791_803delCTGGAGCCAGCAG c.(790-804)cctggagccagcagcfs p.PGASS264fs NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 264 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) TCCCCAGGACCTGGAGCCAGCAGCAACCCTTGC 0.502 7 84 --- --- --- --- IMPAD1 54928 broad.mit.edu 37 8 57905985 57906000 + Frame_Shift_Del DEL CCGCGGGCCCCGCCGC CCGCGGGCCCCGCCGC - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr8:57905985_57906000delCCGCGGGCCCCGCCGC ENST00000262644.4 - 1 403_418 c.145_160delGCGGCGGGGCCCGCGG c.(145-162)gcggcggggcccgcggccfs p.AAGPAA49fs NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 49 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding p.A53A(1) kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) TcggccgcggccgcgggccccgccgcgccgccgccA 0.745 5 9 --- --- --- --- PTCH1 5727 broad.mit.edu 37 9 98278973 98278975 + In_Frame_Del DEL CTC CTC - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr9:98278973_98278975delCTC ENST00000375274.2 - 1 272_274 c.128_130delGAG c.(127-132)ggagaa>gaa p.G43del PTCH1_ENST00000437951.1_5'UTR|PTCH1_ENST00000468211.2_5'UTR|PTCH1_ENST00000430669.2_5'UTR Q13635 PTC1_HUMAN patched 1 0 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.G43E(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) tcttcttcttctcctcctcctcc 0.567 25 135 --- --- --- --- RALGDS 5900 broad.mit.edu 37 9 135977871 135977872 + Frame_Shift_Ins INS - - CGCT TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr9:135977871_135977872insCGCT ENST00000393160.3 - 14 2188_2189 c.1835_1836insAGCG c.(1834-1836)cgcfs p.-612fs RALGDS_ENST00000393157.3_Frame_Shift_Ins_p.-666fs|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Frame_Shift_Ins_p.-738fs|RALGDS_ENST00000372047.3_Frame_Shift_Ins_p.-655fs|RALGDS_ENST00000372050.3_Frame_Shift_Ins_p.-667fs|RALGDS_ENST00000372062.3_Frame_Shift_Ins_p.-638fs NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) ACTCGCTCCAGCGCTTGACAAT 0.629 T CIITA """PMBL, Hodgkin Lymphona, """ 19 154 --- --- --- --- BBS10 79738 broad.mit.edu 37 12 76742124 76742126 + In_Frame_Del DEL CAT CAT - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr12:76742124_76742126delCAT ENST00000393262.3 - 1 96_98 c.13_15delATG c.(13-15)atgdel p.M5del NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 5 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 CTGCAGCGGCCATAGAACTTAAC 0.611 Bardet-Biedl syndrome OREG0022001 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 18 --- --- --- --- CDADC1 81602 broad.mit.edu 37 13 49833659 49833660 + Splice_Site INS - - GTAA TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr13:49833659_49833660insGTAA ENST00000251108.6 + 4 543 c.430_430insGTAA c.(430-432)gct>GTAAgct p.A144fs CDADC1_ENST00000538056.1_Splice_Site_p.G144fs|CDADC1_ENST00000444959.1_Intron NM_001193478.1|NM_030911.3 NP_001180407.1|NP_112173.1 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 144 hydrolase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 16 Lung NSC(96;0.000705)|Breast(56;0.0011)|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;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) GATTGTAAATGGTAAGTGCAGA 0.426 16 155 --- --- --- --- SOX21-AS1 100507533 broad.mit.edu 37 13 95366861 95366862 + RNA DEL CA CA - rs112970377 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr13:95366861_95366862delCA ENST00000438290.2 + 0 1648_1649 NR_046514.1 TCAGTTCATTcacacacacaca 0.381 3 3 --- --- --- --- PMFBP1 83449 broad.mit.edu 37 16 72205093 72205101 + Splice_Site DEL TACCTCATC TACCTCATC - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr16:72205093_72205101delTACCTCATC ENST00000537465.1 - 2 165_171 c.7_13delGATGAGGTA c.(7-15)gatgaggta>ta p.DEV3del PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000237353.10_Splice_Site_p.DEV3del Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 3 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTAGGAGCCTTACCTCATCTTTCATTTCC 0.330 14 179 --- --- --- --- LAMA3 3909 broad.mit.edu 37 18 21437864 21437877 + Frame_Shift_Del DEL GCTTTCCTGAGTGT GCTTTCCTGAGTGT - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr18:21437864_21437877delGCTTTCCTGAGTGT ENST00000313654.9 + 33 4434_4447 c.4193_4206delGCTTTCCTGAGTGT c.(4192-4206)cgctttcctgagtgtfs p.RFPEC1398fs LAMA3_ENST00000399516.3_Frame_Shift_Del_p.RFPEC1398fs NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1398 Domain III B.|Laminin EGF-like 11. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGTTTTACCGCTTTCCTGAGTGTGTTCCCTGCA 0.519 53 105 --- --- --- --- ME2 4200 broad.mit.edu 37 18 48450474 48450480 + Frame_Shift_Del DEL AAAGCAA AAAGCAA - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b d2eebe5e-f58c-4240-b12c-c84353fddc49 g.chr18:48450474_48450480delAAAGCAA ENST00000321341.5 + 11 1335_1341 c.1063_1069delAAAGCAA c.(1063-1071)aaagcaaaafs p.KAK355fs ME2_ENST00000382927.3_Frame_Shift_Del_p.KAK355fs NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 355 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) TTAGGGACGGAAAGCAAAAATAGATAG 0.314 38 60 --- --- --- ---