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 TOX 9760 broad.mit.edu 37 8 59728152 59728152 + Silent SNP C C T TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr8:59728152C>T ENST00000361421.1 - 7 1357 c.1137G>A c.(1135-1137)ccG>ccA p.P379P NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 379 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GATTCATTCCCGGTTGTTGGT 0.537000 4 59 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136915560 136915560 + Missense_Mutation SNP G G A TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr9:136915560G>A ENST00000303407.7 - 5 835 c.650C>T c.(649-651)gCc>gTc p.A217V BRD3_ENST00000357885.2_Missense_Mutation_p.A217V|BRD3_ENST00000371834.2_Missense_Mutation_p.A217V NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 217 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) AGGTGGGGCGGCAGCTGGGGG 0.682000 T C15orf55 lethal midline carcinoma of young people 4 111 0 0 1 0 0 TRIM8 81603 broad.mit.edu 37 10 104414839 104414839 + Silent SNP G G A TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr10:104414839G>A ENST00000302424.6 + 3 791 c.669G>A c.(667-669)gaG>gaA p.E223E TRIM8_ENST00000487927.1_3'UTR NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 223 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) ACTCGCAGGAGAAAGTGAACC 0.562000 5 38 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 124036776 124036776 + Missense_Mutation SNP A A T TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr5:124036776A>T ENST00000306315.5 - 2 1528 c.1093T>A c.(1093-1095)Tgt>Agt p.C365S ZNF608_ENST00000504926.1_5'UTR NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 365 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GGCCCAAGACACTCTGGCTCT 0.443000 9 73 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 47 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67654616 67654616 + Missense_Mutation SNP G G A TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr16:67654616G>A ENST00000264010.4 + 6 1547 c.1103G>A c.(1102-1104)cGt>cAt p.R368H CTCF_ENST00000401394.1_Missense_Mutation_p.R40H NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 368 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.R368H(1) breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) AAATTAAAACGTCACATTCGC 0.438000 5 104 0 0 1 0 0 CCNK 8812 broad.mit.edu 37 14 99961911 99961911 + Missense_Mutation SNP C C T TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr14:99961911C>T ENST00000389879.5 + 4 479 c.356C>T c.(355-357)aCa>aTa p.T119I CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Missense_Mutation_p.T119I NM_001099402.1 NP_001092872.1 O75909 CCNK_HUMAN cyclin K 119 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding NS(1)|endometrium(2)|lung(3) 6 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) ATCATCAAAACAGCTCGTAGT 0.378000 11 79 0 0 1 0 0 DMRTC2 63946 broad.mit.edu 37 19 42351581 42351581 + Missense_Mutation SNP G G C TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr19:42351581G>C ENST00000269945.3 + 2 136 c.85G>C c.(85-87)Gag>Cag p.E29Q DMRTC2_ENST00000596827.1_Missense_Mutation_p.E29Q|DMRTC2_ENST00000602098.1_3'UTR NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 29 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 CCAGAGCACAGAGCTGATCCC 0.637000 15 138 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995225 140995225 + Missense_Mutation SNP C C A TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chrX:140995225C>A ENST00000285879.4 + 4 2321 c.2035C>A c.(2035-2037)Cct>Act p.P679T MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 679 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCAGAGTCCTGAGAGTGC 0.562000 HNSCC(15;0.026) 34 69 1.26612e-14 1.42844e-14 1 1 0 F11 2160 broad.mit.edu 37 4 187201675 187201675 + Missense_Mutation SNP T T C TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr4:187201675T>C ENST00000264692.4 + 10 1253 c.920T>C c.(919-921)aTa>aCa p.I307T F11_ENST00000403665.2_Missense_Mutation_p.I359T P03951 FA11_HUMAN coagulation factor XI 359 Apple 4. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) CCAACTAAAATACTTCACGGG 0.398000 11 50 0 0 1 0 0 EPN2 22905 broad.mit.edu 37 17 19215386 19215386 + Missense_Mutation SNP G G A TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr17:19215386G>A ENST00000314728.5 + 6 1385 c.901G>A c.(901-903)Gat>Aat p.D301N EPN2_ENST00000347697.2_Missense_Mutation_p.D244N|EPN2_ENST00000395626.1_Missense_Mutation_p.D301N|EPN2_ENST00000575595.1_Missense_Mutation_p.D16N|EPN2_ENST00000395618.3_Missense_Mutation_p.D16N|EPN2_ENST00000395620.2_Missense_Mutation_p.D244N|EPN2_ENST00000571254.1_Missense_Mutation_p.D244N NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 301 endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CAGGCGGGGTGATGACCTCAG 0.458000 8 105 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228491377 228491377 + Splice_Site SNP C C G TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr1:228491377C>G ENST00000570156.2 + 52 13814 c.13738_splice c.e52-1 p.A4580_splice OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Splice_Site_p.A1270_splice|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3623 Fibronectin type-III 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCTTTCCAGCCCTGCCGGCCA 0.557000 8 74 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223116655 223116655 + Missense_Mutation SNP C C A TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr1:223116655C>A ENST00000284476.6 + 2 654 c.490C>A c.(490-492)Cag>Aag p.Q164K DISP1_ENST00000360254.2_Missense_Mutation_p.Q164K|DISP1_ENST00000495684.1_Intron NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 164 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GCCTGTGCAACAGCACATAGC 0.458000 10 87 7.48243e-07 8.02992e-07 1 1 0 OR2AT4 341152 broad.mit.edu 37 11 74800536 74800536 + Missense_Mutation SNP C C T TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr11:74800536C>T ENST00000305159.3 - 1 263 c.223G>A c.(223-225)Gac>Aac p.D75N NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 AAAAGGATGTCCAAGGTGGAG 0.522000 6 43 0 0 1 0 0 PTPN7 5778 broad.mit.edu 37 1 202127349 202127349 + Missense_Mutation SNP C C T TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr1:202127349C>T ENST00000309017.3 - 3 1291 c.518G>A c.(517-519)cGg>cAg p.R173Q PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000367279.4_Missense_Mutation_p.R107Q|PTPN7_ENST00000308986.5_Missense_Mutation_p.R68Q|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000544762.1_5'UTR NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 68 Tyrosine-protein phosphatase. cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 GGTGACCTCCCGGGGTGTGTT 0.632000 3 47 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20109180 20109180 + Silent SNP A A G TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr17:20109180A>G ENST00000395530.2 + 2 1783 c.1575A>G c.(1573-1575)ctA>ctG p.L525L SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Silent_p.L606L|SPECC1_ENST00000395529.3_Silent_p.L606L|SPECC1_ENST00000395527.4_Silent_p.L606L|SPECC1_ENST00000395522.2_Silent_p.L525L|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000584527.1_Silent_p.L24L|SPECC1_ENST00000395525.3_Silent_p.L525L|AC004702.2_ENST00000580225.1_lincRNA NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 606 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) AAGAATTACTAAAGGCAAACG 0.443000 12 93 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6680134 6680134 + Missense_Mutation SNP G G C TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr1:6680134G>C ENST00000377648.4 + 3 795 c.413G>C c.(412-414)gGc>gCc p.G138A PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 138 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) TACAGGGGGGGCTTGCTGAAG 0.607000 6 62 0 0 1 0 0 SPATA6L 55064 broad.mit.edu 37 9 4604231 4604231 + Missense_Mutation SNP T T G TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr9:4604231T>G ENST00000454239.2 - 12 1373 c.1128A>C c.(1126-1128)agA>agC p.R376S SPATA6L_ENST00000381895.5_Missense_Mutation_p.R253S|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Missense_Mutation_p.R318S B4DIY4 B4DIY4_HUMAN spermatogenesis associated 6-like 318 GGTAGCTTGGTCTTTCAATGA 0.348000 5 44 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43783268 43783268 + Missense_Mutation SNP C C T TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr1:43783268C>T ENST00000372476.3 + 16 2733 c.2654C>T c.(2653-2655)gCg>gTg p.A885V TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.A530V NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 885 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGTGACTTTGCGGGAGAACTG 0.502000 6 209 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 5 44 0 0 1 0 0 KIAA0141 9812 broad.mit.edu 37 5 141309245 141309245 + Missense_Mutation SNP C C T TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr5:141309245C>T ENST00000432126.2 + 5 645 c.511C>T c.(511-513)Ccc>Tcc p.P171S KIAA0141_ENST00000194118.4_Missense_Mutation_p.P171S NM_001142603.1|NM_014773.3 NP_001136075.1|NP_055588.3 Q14154 DELE_HUMAN KIAA0141 171 apoptosis|regulation of caspase activity mitochondrion protein binding endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGCTCAGCCCCGGAACTT 0.617000 4 57 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7405016 7405016 + Missense_Mutation SNP G G A TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr17:7405016G>A ENST00000322644.6 + 14 2716 c.2317G>A c.(2317-2319)Gga>Aga p.G773R NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 773 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GGTCGTGTCCGGAGCTAAAGG 0.483000 3 50 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2436267 2436267 + Missense_Mutation SNP G G A TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr11:2436267G>A ENST00000452833.1 - 10 1504 c.1496C>T c.(1495-1497)cCg>cTg p.P499L TRPM5_ENST00000528453.1_Missense_Mutation_p.P497L|TRPM5_ENST00000155858.6_Missense_Mutation_p.P497L|TRPM5_ENST00000533060.1_Missense_Mutation_p.P497L Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 497 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CCGCTTGGCCGGGCCCTTCTC 0.726000 4 33 0 0 1 0 0 PHKG2 5261 broad.mit.edu 37 16 30768222 30768222 + Missense_Mutation SNP C C T TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr16:30768222C>T ENST00000563588.1 + 10 1264 c.1025C>T c.(1024-1026)gCg>gTg p.A342V PHKG2_ENST00000424889.3_Missense_Mutation_p.A342V|PHKG2_ENST00000328273.7_Missense_Mutation_p.A346V NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 342 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) GACCCTTATGCGCTGCGGTCA 0.607000 4 169 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285560 16285560 + Silent SNP T T C TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr17:16285560T>C ENST00000302182.3 + 2 731 c.339T>C c.(337-339)ccT>ccC p.P113P UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 113 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCTCCCGACCAGC 0.557000 4 105 0 0 1 0 0 CNTROB 116840 broad.mit.edu 37 17 7852810 7852810 + Silent SNP G G T TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr17:7852810G>T ENST00000380262.3 + 19 3685 c.2760G>T c.(2758-2760)cgG>cgT p.R920R CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Silent_p.R898R|CNTROB_ENST00000565740.1_Silent_p.R899R NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 898 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) TGAGGAGCCGGGGGGGAGTCT 0.552000 7 43 0.000157383 0.000161043 1 1 0 FAM47B 170062 broad.mit.edu 37 X 34960974 34960974 + Missense_Mutation SNP G G A TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chrX:34960974G>A ENST00000329357.5 + 1 62 c.26G>A c.(25-27)cGg>cAg p.R9Q NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 9 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCACAGGACCGGCCAAGGTCC 0.627000 5 13 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179480436 179480436 + Missense_Mutation SNP G G T TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr2:179480436G>T ENST00000589042.1 - 258 48616 c.48392C>A c.(48391-48393)gCt>gAt p.A16131D TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7191D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13563D|TTN_ENST00000591111.1_Missense_Mutation_p.A14490D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7258D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7066D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14490 Fibronectin type-III 17. 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) TTTGTTACGAGCACAAACTTT 0.373000 13 83 4.3838e-07 4.82218e-07 1 1 0 FAT2 2196 broad.mit.edu 37 5 150908750 150908750 + Missense_Mutation SNP C C T rs114070271 byFrequency TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr5:150908750C>T ENST00000261800.5 - 14 10027 c.10015G>A c.(10015-10017)Gtc>Atc p.V3339I NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3339 Cadherin 30. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGAGGATGACGTCACCCACA 0.517000 18 66 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 3 10 0 0 1 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74625601 74625601 + Silent SNP C C T TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr17:74625601C>T ENST00000156626.7 - 2 523 c.324G>A c.(322-324)ccG>ccA p.P108P ST6GALNAC1_ENST00000590878.1_5'UTR NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 108 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 GCTCCTCCGGCGGTGCCTGGT 0.587000 8 75 0 0 1 0 0 CA8 767 broad.mit.edu 37 8 61137094 61137094 + Splice_Site SNP A A C TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr8:61137094A>C ENST00000317995.4 - 6 890 c.e6+1 CA8_ENST00000528666.1_Splice_Site NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) GTAAATACTCACCTGGTAATA 0.269000 11 101 0 0 1 0 0 C5orf22 55322 broad.mit.edu 37 5 31534435 31534435 + Translation_Start_Site SNP A A T TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr5:31534435A>T ENST00000355907.3 + 0 265 C5orf22_ENST00000325366.9_Silent_p.V46V Q49AR2 CE022_HUMAN chromosome 5 open reading frame 22 kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1) 18 CCAGTAATGTAAGTTTTTTAC 0.408000 27 127 0 0 1 0 0 ZNF823 55552 broad.mit.edu 37 19 11832577 11832577 + Missense_Mutation SNP G G T TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr19:11832577G>T ENST00000341191.6 - 4 1925 c.1772C>A c.(1771-1773)gCa>gAa p.A591E ZNF823_ENST00000545749.1_Missense_Mutation_p.A409E NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 AGAACTCAATGCTTTCCCACA 0.403000 HNSCC(68;0.2) 4 75 0.00024832 0.00024832 1 1 0 AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- HSP90AB1 3326 broad.mit.edu 37 6 44216408 44216409 + Frame_Shift_Del DEL TT TT - TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr6:44216408_44216409delTT ENST00000371554.1 + 2 256_257 c.42_43delTT c.(40-45)acttfs p.TF14fs HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.TF14fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.TF14fs P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 14 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGGTGGAGACTTTTGCCTTTCA 0.411 11 115 --- --- --- --- RP11-596D21.1 0 broad.mit.edu 37 14 31756985 31756986 + RNA DEL CA CA - TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr14:31756985_31756986delCA ENST00000551799.1 + 0 400 TTTTGTATTGCACAGTCATACA 0.475 3 6 --- --- --- --- SAMD4A 23034 broad.mit.edu 37 14 55227159 55227159 + Frame_Shift_Del DEL C C - TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr14:55227159delC ENST00000251091.5 + 5 1498 c.1193delC c.(1192-1194)gcfs p.A398fs SAMD4A_ENST00000357634.3_Frame_Shift_Del_p.A485fs|SAMD4A_ENST00000554335.1_Frame_Shift_Del_p.A486fs|SAMD4A_ENST00000392067.3_Frame_Shift_Del_p.A486fs|SAMD4A_ENST00000555192.1_Frame_Shift_Del_p.A77fs NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 486 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 CTGGCCGTCGCCCCCCTGCCA 0.687 2 4 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- --- HELZ2 85441 broad.mit.edu 37 20 62203693 62203693 + Frame_Shift_Del DEL C C - TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0c3acfc-b0cc-41e0-833d-928662350c68 a31e4ea8-9af6-4430-845c-9eef051c1179 g.chr20:62203693delC ENST00000467148.1 - 1 115 c.46delG c.(46-48)acfs p.D16fs HELZ2_ENST00000479540.1_5'UTR NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GTGAGCAGGTCCCCCCGCTGG 0.731 2 4 --- --- --- ---