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 CNOT2 4848 broad.mit.edu 37 12 70713109 70713109 + Missense_Mutation SNP T T C TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr12:70713109T>C ENST00000229195.3 + 4 782 c.203T>C c.(202-204)cTg>cCg p.L68P CNOT2_ENST00000418359.3_Missense_Mutation_p.L68P NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 68 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 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) TCAGGTCAGCTGTCTCAGTTT 0.333000 20 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179571236 179571236 + Missense_Mutation SNP C C A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr2:179571236C>A ENST00000589042.1 - 102 29589 c.29365G>T c.(29365-29367)Gat>Tat p.D9789Y TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D9472Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8545Y|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9472 Ig-like 79. 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) TTCCTTTCATCCACCTGTAAG 0.383000 12 57 5.16669e-11 5.43164e-11 1 1 0 TRIM24 8805 broad.mit.edu 37 7 138252324 138252324 + Silent SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr7:138252324C>T ENST00000343526.4 + 10 1844 c.1629C>T c.(1627-1629)aaC>aaT p.N543N TRIM24_ENST00000415680.2_Silent_p.N509N|TRIM24_ENST00000497516.1_3'UTR O15164 TIF1A_HUMAN tripartite motif containing 24 543 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 ATCCACCAAACCAGAACATAC 0.443000 28 113 0 0 1 0 0 FAM26E 254228 broad.mit.edu 37 6 116836965 116836965 + Missense_Mutation SNP A A C TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr6:116836965A>C ENST00000368599.3 + 2 794 c.743A>C c.(742-744)aAc>aCc p.N248T TRAPPC3L_ENST00000368602.3_Intron NM_153711.2 NP_714922.1 Q8N5C1 FA26E_HUMAN family with sequence similarity 26, member E 248 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) TTTTTTGAAAACAAGAGGCCA 0.468000 42 20 0 0 1 0 0 ZNF720 124411 broad.mit.edu 37 16 31766709 31766709 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr16:31766709G>A ENST00000399681.3 + 6 1576 c.1097G>A c.(1096-1098)tGt>tAt p.C366Y ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000316491.9_Intron Q7Z2F6 ZN720_HUMAN zinc finger protein 720 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding endometrium(1)|kidney(1)|lung(1)|stomach(1) 4 CCCTACATATGTAAAGAATGT 0.353000 5 7 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90136563 90136563 + Missense_Mutation SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr5:90136563C>T ENST00000405460.2 + 78 16876 c.16780C>T c.(16780-16782)Cgc>Tgc p.R5594C GPR98_ENST00000425867.2_Missense_Mutation_p.R1255C NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5594 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATTTCCTAAACGCTTCCAGAT 0.448000 4 148 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002344 98002344 + Missense_Mutation SNP T T G TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr3:98002344T>G ENST00000355273.2 + 1 613 c.613T>G c.(613-615)Ttt>Gtt p.F205V RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TCTAATGGTTTTTATTTTGTC 0.313000 14 51 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611639 179611639 + Missense_Mutation SNP C C T rs150492317 TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr2:179611639C>T ENST00000360870.5 - 46 15710 c.15488G>A c.(15487-15489)cGt>cAt p.R5163H TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 7080 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R5163H(1) 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) TGAATCGGAACGCCATATTTC 0.388000 29 142 0 0 1 0 0 GPBAR1 151306 broad.mit.edu 37 2 219127452 219127452 + Missense_Mutation SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr2:219127452C>T ENST00000522678.1 + 2 873 c.5C>T c.(4-6)aCg>aTg p.T2M GPBAR1_ENST00000519574.1_Missense_Mutation_p.T2M|GPBAR1_ENST00000521462.1_Missense_Mutation_p.T2M|GPBAR1_ENST00000479077.1_Missense_Mutation_p.T2M NM_001077191.1 NP_001070659.1 Q8TDU6 GPBAR_HUMAN G protein-coupled bile acid receptor 1 2 integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(1)|ovary(1) 4 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCAAGATGACGCCCAACAGC 0.662000 8 7 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684273 75684273 + Silent SNP G G A rs148196192 TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr1:75684273G>A ENST00000370855.5 - 17 1544 c.1431C>T c.(1429-1431)tgC>tgT p.C477C SLC44A5_ENST00000535611.1_Silent_p.C347C|SLC44A5_ENST00000370859.3_Silent_p.C477C NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 477 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CAGCAAGGGCGCACTGACCTA 0.438000 3 39 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764432 92764432 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr7:92764432G>A ENST00000318238.4 - 5 2069 c.853C>T c.(853-855)Cgg>Tgg p.R285W SAMD9L_ENST00000411955.1_Missense_Mutation_p.R285W|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R285W NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 285 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTTGGCTCCCGAATACACTTC 0.373000 12 162 0 0 1 0 0 KLB 152831 broad.mit.edu 37 4 39448717 39448717 + Missense_Mutation SNP G G T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr4:39448717G>T ENST00000257408.4 + 4 2468 c.2371G>T c.(2371-2373)Gcc>Tcc p.A791S NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 791 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 GGAATACATTGCCTCCAAGCA 0.672000 24 13 2.44723e-14 2.60614e-14 1 1 0 PHOSPHO1 0 broad.mit.edu 37 17 47304069 47304069 + Translation_Start_Site SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr17:47304069G>A ENST00000310544.4 - 0 112 PHOSPHO1_ENST00000514112.1_De_novo_Start_InFrame|PHOSPHO1_ENST00000413580.1_De_novo_Start_InFrame Q8TCT1 PHOP1_HUMAN phosphatase, orphan 1 regulation of bone mineralization metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) Choline(DB00122) GTGCATTACCGTGAGCACCAC 0.562000 12 42 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30343646 30343646 + Missense_Mutation SNP T T C rs139463338 TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr21:30343646T>C ENST00000361371.4 - 7 1081 c.931A>G c.(931-933)Att>Gtt p.I311V LTN1_ENST00000389195.2_Missense_Mutation_p.I357V|LTN1_ENST00000389194.2_Missense_Mutation_p.I357V NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 311 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GGGCAGACAATTGGGTCACTG 0.448000 29 83 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39053719 39053719 + Missense_Mutation SNP T T A rs34973087 TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr2:39053719T>A ENST00000295373.6 - 15 2878 c.2752A>T c.(2752-2754)Aca>Tca p.T918S NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 918 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) GTTATGGATGTCTCAGCAATG 0.403000 18 66 0 0 1 0 0 CAMK1 8536 broad.mit.edu 37 3 9804880 9804880 + Missense_Mutation SNP A A G TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr3:9804880A>G ENST00000256460.3 - 4 410 c.233T>C c.(232-234)aTt>aCt p.I78T OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron NM_003656.4 NP_003647.1 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 78 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) CAGGGCTACAATGTTGGGGTG 0.572000 31 44 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134334665 134334665 + Silent SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr9:134334665C>T ENST00000357304.4 + 10 1381 c.1326C>T c.(1324-1326)tcC>tcT p.S442S PRRC2B_ENST00000458550.1_Silent_p.S442S|PRRC2B_ENST00000405995.1_Silent_p.S442S|PRRC2B_ENST00000372249.1_5'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 442 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 TGGGTGCGTCCCGTGTGGTCC 0.637000 24 19 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6194808 6194808 + Silent SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr1:6194808G>A ENST00000262450.3 - 19 3081 c.2982C>T c.(2980-2982)aaC>aaT p.N994N CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 994 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GGTAGGGGTGGTTGCAGCACT 0.572000 14 52 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52420322 52420322 + Silent SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr3:52420322G>A ENST00000420323.2 + 55 9033 c.8772G>A c.(8770-8772)ctG>ctA p.L2924L NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2924 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATGCGGCTCTGGCCAGCCTGC 0.582000 4 3 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054540 29054540 + Missense_Mutation SNP C C A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr6:29054540C>A ENST00000377173.2 - 1 550 c.486G>T c.(484-486)ttG>ttT p.L162F NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 TGTTAAGAGTCAAGGAAGACT 0.488000 12 22 6.40141e-05 6.56145e-05 1 1 0 GDI2 2665 broad.mit.edu 37 10 5827898 5827898 + Missense_Mutation SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr10:5827898C>T ENST00000380191.4 - 5 794 c.504G>A c.(502-504)atG>atA p.M168I GDI2_ENST00000380181.3_Missense_Mutation_p.M123I|GDI2_ENST00000380132.4_Missense_Mutation_p.M172I NM_001115156.1|NM_001494.3 NP_001108628.1|NP_001485.2 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 168 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 ACACATCTCGCATTGTGGTCT 0.363000 35 33 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133384808 133384808 + Missense_Mutation SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr12:133384808C>T ENST00000204726.3 - 5 1405 c.847G>A c.(847-849)Gtt>Att p.V283I GOLGA3_ENST00000456883.2_Missense_Mutation_p.V283I|GOLGA3_ENST00000450791.2_Missense_Mutation_p.V283I|GOLGA3_ENST00000545875.1_Missense_Mutation_p.V283I|GOLGA3_ENST00000537452.1_Missense_Mutation_p.V283I NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 283 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TCAGACACAACGGACGCCGCA 0.567000 26 54 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3293233 3293233 + Missense_Mutation SNP T T C TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr9:3293233T>C ENST00000382004.3 - 7 886 c.575A>G c.(574-576)gAg>gGg p.E192G RFX3_ENST00000358730.2_Missense_Mutation_p.E192G|RFX3_ENST00000302303.1_Missense_Mutation_p.E192G NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 192 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) TTCTGCTGTCTCATAATTGTC 0.438000 40 3 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166973530 166973530 + Missense_Mutation SNP A A G TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr1:166973530A>G ENST00000367872.4 + 6 881 c.637A>G c.(637-639)Atc>Gtc p.I213V MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.I182V NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 213 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 CTGGCCACCTATCTACTGCAA 0.343000 15 39 0 0 1 0 0 HOXB4 3214 broad.mit.edu 37 17 46655328 46655328 + Silent SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr17:46655328C>T ENST00000332503.5 - 1 2145 c.354G>A c.(352-354)ccG>ccA p.P118P HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron NM_024015.4 NP_076920.1 P17483 HXB4_HUMAN homeobox B4 118 Pro-rich (part of the transcriptional activation domain). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 AGGGAGGCGGCGGGGGGCTGC 0.751000 16 12 0 0 1 0 0 TRIM51HP 0 broad.mit.edu 37 11 55062966 55062966 + RNA SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr11:55062966C>T ENST00000526016.1 - 0 671 NR_038174.2 CTTTATGGCACATTTTCTTCA 0.438000 9 36 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 4 48 0 0 1 0 0 OR5B2 390190 broad.mit.edu 37 11 58190261 58190261 + Silent SNP A A G TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr11:58190261A>G ENST00000302581.2 - 1 525 c.474T>C c.(472-474)atT>atC p.I158I NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATATGCCCCCAATGTGGAATG 0.483000 10 50 0 0 1 0 0 SLC35A3 23443 broad.mit.edu 37 1 100483315 100483315 + Silent SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr1:100483315G>A ENST00000370155.3 + 7 1223 c.831G>A c.(829-831)tcG>tcA p.S277S SLC35A3_ENST00000427993.2_Silent_p.S277S|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000370153.1_Silent_p.S319S NM_012243.1 NP_036375.1 Q9Y2D2 S35A3_HUMAN solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 277 UDP-N-acetylglucosamine metabolic process Golgi membrane|integral to membrane sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 11 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199) CCTCTTTATCGATAATATTAT 0.294000 16 15 0 0 1 0 0 SMURF2P1 0 broad.mit.edu 37 17 28935540 28935540 + RNA SNP G G A rs144598799 by1000genomes TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr17:28935540G>A ENST00000578265.1 + 0 193 CGTTGTGTTCGTCTTTTTCCA 0.363000 3 30 0 0 1 0 0 SART1 9092 broad.mit.edu 37 11 65729299 65729299 + Silent SNP G G T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr11:65729299G>T ENST00000312397.5 + 1 140 c.48G>T c.(46-48)acG>acT p.T16T SART1_ENST00000528573.1_3'UTR NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 16 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 cggccgggacgacggcggcgg 0.697000 8 23 0.00307968 0.00307968 1 1 0 CSMD1 64478 broad.mit.edu 37 8 3611478 3611478 + Missense_Mutation SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr8:3611478C>T ENST00000520002.1 - 6 1460 c.905G>A c.(904-906)cGc>cAc p.R302H CSMD1_ENST00000602723.1_Missense_Mutation_p.R302H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R302H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R302H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R302H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R302H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R302H Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 302 CUB 2. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAATCCTTTGCGTCGGTGGTT 0.413000 11 19 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 45 38 0 0 1 0 0 SLC12A3 0 broad.mit.edu 37 16 56926069 56926069 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr16:56926069G>A ENST00000438926.2 + 20 2472 c.2443G>A c.(2443-2445)Gct>Act p.A815T SLC12A3_ENST00000262502.5_Intron|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A814T|SLC12A3_ENST00000563236.1_Intron NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 806 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) AGTCTCTGGCGCTTGTCAGTG 0.587000 33 34 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr16:90126823T>G ENST00000449207.2 - 9 1178 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 3 73 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23793986 23793986 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr7:23793986G>A ENST00000354639.3 + 10 1581 c.1117G>A c.(1117-1119)Gtg>Atg p.V373M STK31_ENST00000433467.2_Missense_Mutation_p.V396M|STK31_ENST00000355870.3_Missense_Mutation_p.V396M|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.V373M NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 396 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGCTATACAAGTGTTGGATGA 0.363000 35 97 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1800065 1800065 + Missense_Mutation SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr19:1800065C>T ENST00000539485.1 - 14 1666 c.1433G>A c.(1432-1434)cGc>cAc p.R478H ATP8B3_ENST00000525591.1_Missense_Mutation_p.R431H|ATP8B3_ENST00000526092.1_Missense_Mutation_p.R425H|ATP8B3_ENST00000310127.6_Missense_Mutation_p.R478H O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 478 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGGTGCTGCGGGCCTTGGC 0.587000 10 10 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61600315 61600315 + Nonsense_Mutation SNP A A T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr18:61600315A>T ENST00000238508.3 + 7 726 c.667A>T c.(667-669)Aag>Tag p.K223* NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) GATGTTTATGAAGAAAAAGCT 0.373000 77 47 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871432 51871432 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr20:51871432G>A ENST00000371497.5 + 2 2322 c.1435G>A c.(1435-1437)Gtg>Atg p.V479M TSHZ2_ENST00000603338.2_Missense_Mutation_p.V476M|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V476M NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 479 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TGAGAAAGTCGTGAAAAGCGA 0.413000 7 75 0 0 1 0 0 TRMT2B 79979 broad.mit.edu 37 X 100278580 100278580 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chrX:100278580G>A ENST00000338687.7 - 7 1305 c.500C>T c.(499-501)tCt>tTt p.S167F TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S212F|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S167F|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S212F|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S212F|TRMT2B_ENST00000372936.3_Missense_Mutation_p.S212F Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 212 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 CTCCAATGGAGACTGTCGAAG 0.448000 38 6 0 0 1 0 0 SPINT1 6692 broad.mit.edu 37 15 41136875 41136875 + Silent SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr15:41136875C>T ENST00000344051.4 + 2 357 c.123C>T c.(121-123)ccC>ccT p.P41P SPINT1_ENST00000562057.1_Silent_p.P41P|SPINT1_ENST00000431806.1_Silent_p.P41P O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 41 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CGCCCGCGCCCCCTGGGCTGC 0.746000 5 0 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142185466 142185466 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr8:142185466G>A ENST00000519811.1 + 14 2513 c.2443G>A c.(2443-2445)Gtt>Att p.V815I DENND3_ENST00000262585.2_Missense_Mutation_p.V735I|DENND3_ENST00000424248.1_Missense_Mutation_p.V683I A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 735 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) AAACCTAGGCGTTGGCAAGAT 0.522000 OREG0019025 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 68 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61987352 61987352 + Missense_Mutation SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr17:61987352C>T ENST00000450719.3 - 3 596 c.359G>A c.(358-360)gGg>gAg p.G120E CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.G131E|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000309894.5_Intron Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 TCCTCCTTCCCCTTCAGGGTG 0.527000 20 63 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67591097 67591097 + Missense_Mutation SNP A A G TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr5:67591097A>G ENST00000521381.1 + 13 2306 c.1690A>G c.(1690-1692)Aac>Gac p.N564D PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 564 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CAAACGTATGAACAGCATTAA 0.373000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 39 54 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134991047 134991047 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chrX:134991047G>A ENST00000535938.1 + 13 1633 c.1466G>A c.(1465-1467)cGt>cAt p.R489H SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.R489H|SAGE1_ENST00000370709.3_Missense_Mutation_p.R489H NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 489 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) CACAGTGTTCGTGAAGAGAAG 0.463000 49 3 0 0 1 0 0 PIK3CD 5293 broad.mit.edu 37 1 9780177 9780177 + Missense_Mutation SNP G G T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr1:9780177G>T ENST00000536656.1 + 11 1450 c.1242G>T c.(1240-1242)aaG>aaT p.K414N PIK3CD_ENST00000543390.1_Missense_Mutation_p.K116N|PIK3CD_ENST00000377346.4_Missense_Mutation_p.K449N|PIK3CD_ENST00000361110.2_Missense_Mutation_p.K414N O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 449 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CAGATGAGAAGGGCGAGCTGC 0.657000 27 4 1.03073e-24 1.1121e-24 1 1 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 51 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784068 82784068 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr7:82784068G>A ENST00000423517.2 - 2 2226 c.1889C>T c.(1888-1890)aCg>aTg p.T630M PCLO_ENST00000333891.8_Missense_Mutation_p.T630M NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 576 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACTTACCTCCGTTAAATGAGG 0.383000 25 21 0 0 1 0 0 TRIM43 129868 broad.mit.edu 37 2 96260159 96260159 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr2:96260159G>A ENST00000272395.2 + 2 524 c.388G>A c.(388-390)Gaa>Aaa p.E130K NM_001164464.1|NM_138800.1 NP_001157936.1|NP_620155.1 Q96BQ3 TRI43_HUMAN tripartite motif containing 43 130 intracellular zinc ion binding breast(1)|large_intestine(3)|lung(7)|ovary(1) 12 CCATCCCATCGAAGAGGCAGC 0.488000 16 75 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13825001 13825001 + Missense_Mutation SNP T T C TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr10:13825001T>C ENST00000357447.2 - 6 673 c.305A>G c.(304-306)tAt>tGt p.Y102C FRMD4A_ENST00000342409.2_Missense_Mutation_p.Y118C|FRMD4A_ENST00000358621.4_Missense_Mutation_p.Y87C|FRMD4A_ENST00000378503.1_Missense_Mutation_p.Y102C NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 102 FERM. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 GCTTTCTATATAGAACCTGAA 0.423000 3 103 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36768010 36768010 + Silent SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr20:36768010G>A ENST00000361475.2 - 9 1319 c.1146C>T c.(1144-1146)ggC>ggT p.G382G TGM2_ENST00000536701.1_Silent_p.G301G|TGM2_ENST00000536724.1_Silent_p.G322G NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 382 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity p.G382G(1) endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) TGCTCAGGTCGCCCTCCTTGA 0.587000 25 17 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102258994 102258994 + Missense_Mutation SNP C C G TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr10:102258994C>G ENST00000370345.3 - 13 1604 c.1507G>C c.(1507-1509)Gac>Cac p.D503H SEC31B_ENST00000494350.1_5'UTR NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 503 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) AGCCCCACGTCACTCTTCAAC 0.517000 3 19 0 0 1 0 0 DGKE 8526 broad.mit.edu 37 17 54933942 54933942 + Missense_Mutation SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr17:54933942C>T ENST00000284061.3 + 8 1348 c.1168C>T c.(1168-1170)Cgt>Tgt p.R390C NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 390 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) TCATGCTCATCGTGAGAAGGC 0.378000 11 77 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125061980 125061980 + Missense_Mutation SNP G G C TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr8:125061980G>C ENST00000522917.1 + 22 3063 c.2857G>C c.(2857-2859)Gta>Cta p.V953L FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V953L|FER1L6-AS2_ENST00000601180.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 953 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCTCCTTGCTGTATTTGAACT 0.512000 18 89 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46263984 46263984 + Missense_Mutation SNP T T C TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr4:46263984T>C ENST00000510861.1 - 9 1191 c.1018A>G c.(1018-1020)Aga>Gga p.R340G GABRA2_ENST00000515082.1_Missense_Mutation_p.R340G|GABRA2_ENST00000381620.4_Missense_Mutation_p.R340G|GABRA2_ENST00000356504.1_Missense_Mutation_p.R340G|GABRA2_ENST00000507069.1_Missense_Mutation_p.R340G|GABRA2_ENST00000514090.1_Missense_Mutation_p.R340G|GABRA2_ENST00000540012.1_Missense_Mutation_p.R285G P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 340 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCCCATCCTCTTTTGGTGAAG 0.393000 20 49 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 89016730 89016730 + Missense_Mutation SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr14:89016730C>T ENST00000556564.1 - 2 316 c.32G>A c.(31-33)cGc>cAc p.R11H PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.R11H NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 11 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GCGCCGGGTGCGTTTCAGTTT 0.537000 14 29 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184046467 184046467 + Silent SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr3:184046467C>T ENST00000342981.4 + 26 4419 c.4005C>T c.(4003-4005)ccC>ccT p.P1335P EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.P1247P|EIF4G1_ENST00000346169.2_Silent_p.P1334P|EIF4G1_ENST00000441154.1_Silent_p.P1171P|EIF4G1_ENST00000435046.2_Silent_p.P1138P|EIF4G1_ENST00000427845.1_Silent_p.P1248P|EIF4G1_ENST00000414031.1_Silent_p.P1294P|EIF4G1_ENST00000382330.3_Silent_p.P1341P|EIF4G1_ENST00000350481.5_Silent_p.P1170P|EIF4G1_ENST00000352767.3_Silent_p.P1341P|EIF4G1_ENST00000434061.2_Silent_p.P1139P|EIF4G1_ENST00000319274.6_Silent_p.P1334P|EIF4G1_ENST00000424196.1_Silent_p.P1341P|EIF4G1_ENST00000411531.1_Silent_p.P1295P NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1334 MI. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTGACATCCCCCACGTGTGGC 0.532000 50 82 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11738849 11738849 + Silent SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr2:11738849G>A ENST00000381486.2 + 15 2496 c.2196G>A c.(2194-2196)aaG>aaA p.K732K GREB1_ENST00000234142.5_Silent_p.K732K NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 732 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) ACATGACGAAGCAGAGGGTGG 0.453000 6 110 0 0 1 0 0 PCDHB17 0 broad.mit.edu 37 5 140536995 140536995 + Silent SNP T T C TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr5:140536995T>C ENST00000539533.1 + 1 1419 c.1419T>C c.(1417-1419)agT>agC p.S473S ACATCGGCAGTGTCAGCGCCA 0.652000 4 76 0 0 1 0 0 PRRX2 51450 broad.mit.edu 37 9 132482906 132482906 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr9:132482906G>A ENST00000372469.4 + 3 706 c.479G>A c.(478-480)cGc>cAc p.R160H NM_016307.3 NP_057391.1 Q99811 PRRX2_HUMAN paired related homeobox 2 160 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|pancreas(1) 3 Ovarian(14;0.00556) GCCAAGTTCCGCAGGAATGAA 0.672000 17 43 0 0 1 0 0 ZNF689 115509 broad.mit.edu 37 16 30616153 30616153 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr16:30616153G>A ENST00000287461.3 - 3 1272 c.935C>T c.(934-936)aCg>aTg p.T312M RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) CTTCTCGCCCGTGTGGATGCG 0.672000 3 16 0 0 1 0 0 LILRB1 0 broad.mit.edu 37 19 55147060 55147060 + Splice_Site SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr19:55147060G>A ENST00000396331.1 + 14 2007 c.1650_splice c.e14+1 p.R550_splice LILRB1_ENST00000396317.1_Splice_Site_p.R534_splice|LILRB1_ENST00000427581.2_Splice_Site_p.R600_splice|LILRB1_ENST00000324602.7_Splice_Site_p.R551_splice|LILRB1_ENST00000396321.2_Splice_Site_p.R550_splice|LILRB1_ENST00000434867.2_Splice_Site_p.R550_splice|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396315.1_Splice_Site_p.R551_splice|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Splice_Site_p.R550_splice|LILRB1_ENST00000396327.3_Splice_Site_p.R551_splice|LILRB1_ENST00000418536.2_Splice_Site_p.R534_splice NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 550 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TGGACACTCGGGTGAGACCCC 0.607000 HNSCC(37;0.09) 24 8 0 0 1 0 0 MMP12 4321 broad.mit.edu 37 11 102743629 102743629 + RNA SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr11:102743629C>T ENST00000532855.1 - 0 412 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) CATACGGGCCCCCCTGGCATT 0.502000 9 16 0 0 1 0 0 EDC3 80153 broad.mit.edu 37 15 74964117 74964117 + Splice_Site SNP T T A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr15:74964117T>A ENST00000315127.4 - 3 346 c.e3-2 EDC3_ENST00000568176.1_Splice_Site|EDC3_ENST00000426797.3_Splice_Site NM_001142444.1|NM_025083.3 NP_001135916.1|NP_079359.2 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding p.?(1) breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 TCACCTGCCCTGAAATACACA 0.408000 46 5 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114058240 114058240 + Missense_Mutation SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr3:114058240C>T ENST00000462705.1 - 12 2440 c.1619G>A c.(1618-1620)cGc>cAc p.R540H ZBTB20_ENST00000357258.3_Missense_Mutation_p.R540H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R540H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R613H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R540H NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 613 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GGAGAAGGAGCGCCAACAGAT 0.498000 27 31 0 0 1 0 0 TMEM180 79847 broad.mit.edu 37 10 104228827 104228827 + Missense_Mutation SNP C C G TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr10:104228827C>G ENST00000238936.4 + 3 278 c.41C>G c.(40-42)cCc>cGc p.P14R TMEM180_ENST00000369931.3_Missense_Mutation_p.P14R|TMEM180_ENST00000450947.2_3'UTR|TMEM180_ENST00000366277.2_5'UTR NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 14 integral to membrane breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CTGGGTCTGCCCACAGCTGTG 0.617000 15 20 0 0 1 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95147295 95147295 + Silent SNP A A G TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr4:95147295A>G ENST00000354268.4 + 3 289 c.216A>G c.(214-216)ccA>ccG p.P72P SMARCAD1_ENST00000457823.2_Silent_p.P72P Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 72 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) CAGAAACTCCAGATAATGAAA 0.313000 26 44 0 0 1 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45702022 45702022 + Splice_Site SNP T T C TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr14:45702022T>C ENST00000310806.4 - 7 1808 c.1348_splice c.e7-1 p.G450_splice NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 450 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 AATTTGGATATCCTATTTAAG 0.259000 7 18 0 0 1 0 0 GFPT1 2673 broad.mit.edu 37 2 69601201 69601201 + Missense_Mutation SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr2:69601201C>T ENST00000357308.4 - 2 230 c.52G>A c.(52-54)Gaa>Aaa p.E18K GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.4_Missense_Mutation_p.E18K NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 18 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 TCCAGGATTTCTCGTCTCGTT 0.328000 27 98 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119588985 119588985 + Missense_Mutation SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr12:119588985C>T ENST00000267260.4 + 10 1628 c.1240C>T c.(1240-1242)Ccc>Tcc p.P414S NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 414 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CAGGGCTTCCCCCAGGTACAC 0.542000 27 22 0 0 1 0 0 POLR3GL 84265 broad.mit.edu 37 1 145457040 145457042 + In_Frame_Del DEL TCT TCT - TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr1:145457040_145457042delTCT ENST00000369314.1 - 7 625_627 c.519_521delAGA c.(517-522)gag>ga p.EE173del POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 173 Glu-rich. endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ctcttccttctcttcttcttctt 0.448 4 9 --- --- --- --- RP11-254I22.1 0 broad.mit.edu 37 5 95414786 95414787 + RNA INS - - TAAAA rs80243332 by1000genomes TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr5:95414786_95414787insTAAAA ENST00000507997.1 + 0 87 CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA acccatgcacttaaagttaaaa 0.361 4 6 --- --- --- --- AGO2 27161 broad.mit.edu 37 8 141557702 141557703 + Frame_Shift_Del DEL GT GT - TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr8:141557702_141557703delGT ENST00000220592.5 - 13 1724_1725 c.1612_1613delAC c.(1612-1614)gfs p.T538fs AGO2_ENST00000519980.1_Frame_Shift_Del_p.T538fs NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 CCCCAGCACCGTGTCTCCCACG 0.634 25 28 --- --- --- --- GDA 9615 broad.mit.edu 37 9 74764597 74764600 + Splice_Site DEL AAGT AAGT - TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr9:74764597_74764600delAAGT ENST00000358399.3 + 1 215_216 c.123_splice c.e1+1 p.41_splice GDA_ENST00000376989.3_Splice_Site_p.16_splice|GDA_ENST00000545168.1_Intron|GDA_ENST00000238018.4_Splice_Site_p.41_splice|GDA_ENST00000376986.1_Splice_Site NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 41 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GACAGCGGCAAAGTAAGCAGGCGC 0.686 8 6 --- --- --- --- OR4A16 81327 broad.mit.edu 37 11 55111376 55111376 + Frame_Shift_Del DEL G G - TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr11:55111376delG ENST00000314721.2 + 1 750 c.700delG c.(700-702)ccfs p.A234fs NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GAGGCATAAAGCCCTGCCTAC 0.413 21 66 --- --- --- --- CNTN1 1272 broad.mit.edu 37 12 41423022 41423025 + Splice_Site DEL GTAA GTAA - TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr12:41423022_41423025delGTAA ENST00000551295.2 + 23 3097 c.e23+1 CNTN1_ENST00000347616.1_Splice_Site|CNTN1_ENST00000348761.2_Splice_Site NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AAAATTTCAGGTAAGTGAGTCATT 0.456 53 35 --- --- --- --- RP11-488I20.3 0 broad.mit.edu 37 16 34619315 34619315 + RNA DEL G G - TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr16:34619315delG ENST00000569242.1 + 0 1748 NR_027079.1 TCACTGGAGTGGCAGGACGGG 0.483 2 4 --- --- --- --- NAE1 8883 broad.mit.edu 37 16 66851378 66851379 + In_Frame_Ins INS - - ATG TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr16:66851378_66851379insATG ENST00000379463.2 - 10 807_808 c.615_616insCAT c.(613-618)cactcc>caCATctcc p.205_206HS>HIS NAE1_ENST00000394074.2_In_Frame_Ins_p.122_123HS>HIS|NAE1_ENST00000359087.4_In_Frame_Ins_p.214_215HS>HIS|NAE1_ENST00000290810.3_In_Frame_Ins_p.211_212HS>HIS NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 211 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) ATCCATGGAGTATGACTGTGGT 0.287 19 32 --- --- --- --- LPPR3 0 broad.mit.edu 37 19 813360 813362 + In_Frame_Del DEL TCC TCC - TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr19:813360_813362delTCC ENST00000359894.2 - 7 1512_1514 c.1449_1451delGGA c.(1447-1452)gaa>ga p.EE485del LPPR3_ENST00000520876.3_In_Frame_Del_p.EE457del NM_024888.2 NP_079164.1 Q6T4P5 LPPR3_HUMAN 457 integral to membrane phosphatidate phosphatase activity ctcctcctcttcctcctcctcct 0.759 2 4 --- --- --- --- TLE2 7089 broad.mit.edu 37 19 3028803 3028803 + Splice_Site DEL T T - TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr19:3028803delT ENST00000262953.6 - 2 287 c.e2-2 TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000443826.3_Splice_Site|TLE2_ENST00000591529.1_Splice_Site NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGCGGGGTCTGGGGGGGGTG 0.622 51 63 --- --- --- --- CTC-457E21.3 0 broad.mit.edu 37 19 22779215 22779215 + RNA DEL G G - rs113336402 TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f809ca39-88a1-4b31-a3b0-3db1eabda4eb e21f03f7-c8ef-4ac5-992c-bb9b96b269fd g.chr19:22779215delG ENST00000600260.1 + 0 157 NR_033899.1 CAGCAGCAAAGAAAAAGGTAC 0.612 4 3 --- --- --- ---